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: | 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 3:152,626,738...152,648,365
Ensembl chr 3:152,626,757...152,649,609
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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 7:123,102,493...123,145,608
Ensembl chr 7:123,102,468...123,145,635
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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 chr19:55,594,801...55,635,312
Ensembl chr19:55,594,831...55,635,122
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Actl6a |
actin-like 6A |
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ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:25741868 PMID:28649782 |
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NCBI chr 2:119,112,776...119,128,870
Ensembl chr 2:119,112,513...119,129,751
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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 chr12:22,194,595...22,211,107
Ensembl chr12:22,194,618...22,211,080
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Acyp1 |
acylphosphatase 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 PMID:28492532 |
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NCBI chr 6:109,097,065...109,110,266
Ensembl chr 6:109,097,065...109,104,050
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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 chr10:67,494,851...67,527,582
Ensembl chr10:67,494,984...67,526,426
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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 chr19:10,423,534...10,460,674
Ensembl chr19:10,423,501...10,460,674
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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 chr17:5,510,009...5,614,416
Ensembl chr17:5,511,385...5,614,435
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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 5:151,209,894...151,277,192
Ensembl chr 5:151,211,342...151,277,165
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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 |
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NCBI chr 1:16,478,127...16,601,769
Ensembl chr 1:16,478,127...16,601,769
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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:22228622 PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 PMID:28969385 |
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NCBI chr13:95,076,308...95,348,913
Ensembl chr13:95,081,390...95,348,913
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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 |
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NCBI chr X:115,561,329...115,589,792
Ensembl chr X:115,561,332...115,619,505
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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 9:65,961,361...66,034,396
Ensembl chr 9:65,961,346...66,033,871
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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 3:80,634,470...80,830,068
Ensembl chr 3:80,634,470...80,830,068
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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 |
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NCBI chr 2:210,861,624...210,874,348
Ensembl chr 2:210,861,625...210,874,304
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Ank3 |
ankyrin 3 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:28492532 |
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NCBI chr20:19,948,767...20,480,628
Ensembl chr20:20,105,047...20,480,623
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Ankrd11 |
ankyrin repeat domain 11 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:26467025 |
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NCBI chr19:55,703,831...55,862,446
Ensembl chr19:55,703,824...55,737,500
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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 |
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NCBI chr12:19,314,222...19,320,339
Ensembl chr12:19,314,251...19,320,142
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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 3:176,475,847...176,490,642
Ensembl chr 3:176,475,893...176,489,925
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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 |
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NCBI chr 5:8,666,046...8,760,458
Ensembl chr 5:8,666,200...8,760,458
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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 3:163,570,435...163,656,612
Ensembl chr 3:163,570,532...163,656,626
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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 |
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NCBI chr X:64,249,576...64,428,444
Ensembl chr X:64,248,278...64,428,592
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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:25741885 |
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NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
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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 3:97,981,506...97,993,684
Ensembl chr 3:97,983,686...97,993,684
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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 1:266,482,787...266,514,570
Ensembl chr 1:266,482,858...266,514,569
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Ash1l |
ASH1 like histone lysine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 2:188,252,592...188,389,251
Ensembl chr 2:188,253,220...188,389,250
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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 chr16:71,011,315...71,033,171
Ensembl chr16:71,011,332...71,032,790
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Asxl1 |
ASXL transcriptional regulator 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:21706002 PMID:25741868 |
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NCBI chr 3:148,832,231...148,902,356
Ensembl chr 3:148,837,814...148,900,452
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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 chr18:13,322,148...13,496,230
Ensembl chr18:13,386,133...13,491,735
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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 chr10:67,427,042...67,475,825
Ensembl chr10:67,427,066...67,473,649
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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 4:95,498,003...95,500,098
Ensembl chr 4:95,498,003...95,500,089
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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: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 |
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NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
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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 |
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NCBI chr X:157,236,400...157,312,028
Ensembl chr X:157,239,306...157,312,028
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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 |
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NCBI chr X:76,820,110...76,979,155
Ensembl chr X:76,692,970...76,708,878 Ensembl chr X:76,692,970...76,708,878
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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:157,094,365...157,126,397
Ensembl chr X:157,095,937...157,126,393
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Bcl11a |
BAF chromatin remodeling complex subunit BCL11A |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741869 |
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NCBI chr14:108,826,717...108,921,197
Ensembl chr14:108,826,831...108,921,669
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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:106,823,442...106,825,016
Ensembl chr X:106,823,491...106,825,014
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Bptf |
bromodomain PHD finger transcription factor |
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ISO |
ClinVar Annotator: match by term: Developmental delay ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28942966 |
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NCBI chr10:95,248,573...95,350,162
Ensembl chr10:95,250,294...95,349,789
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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 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
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Btd |
biotinidase |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:9654207 PMID:10206677 PMID:10400129 PMID:10801053 PMID:11313766 PMID:12227467 PMID:12618081 PMID:14628140 PMID:15776412 PMID:20539236 PMID:20549359 PMID:20556795 PMID:20981092 PMID:21228398 PMID:22975760 PMID:22995991 PMID:23644139 PMID:24033266 PMID:24525934 PMID:25087612 PMID:25333069 PMID:25741868 PMID:26467025 PMID:27329734 PMID:28492532 PMID:28498829 PMID:28682309 PMID:29359854 PMID:31337602 |
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NCBI chr16:7,758,192...7,791,301
Ensembl chr16:7,758,996...7,791,243
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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 |
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NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
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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 chr18:56,193,978...56,295,869
Ensembl chr18:56,193,978...56,295,869
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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:29100089 PMID:32581362 |
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NCBI chr14:86,208,876...86,297,727
Ensembl chr14:86,208,901...86,297,652
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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 6:8,346,645...8,729,773
Ensembl chr 6:8,669,722...8,729,771
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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:32581362 |
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NCBI chr X:9,815,652...10,156,155
Ensembl chr X:9,815,652...10,156,155
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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 chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
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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 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
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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 chr19:25,246,912...25,261,965
Ensembl chr19:25,246,913...25,261,946
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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 |
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NCBI chr17:49,833,194...49,922,932
Ensembl chr17:49,833,400...49,921,550
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Cdk20 |
cyclin-dependent kinase 20 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr17:1,935,900...1,942,867
Ensembl chr17:1,936,163...1,942,865
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Cdkl5 |
cyclin-dependent kinase-like 5 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr X:35,536,396...35,773,204
Ensembl chr X:35,599,258...35,771,711
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Celsr2 |
cadherin, EGF LAG seven-pass G-type receptor 2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:26539891 |
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NCBI chr 2:211,183,410...211,207,458
Ensembl chr 2:211,183,311...211,207,465
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Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:16682973 PMID:16909394 PMID:17345604 PMID:21866095 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28497568 PMID:29588463 |
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NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
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Cep97 |
centrosomal protein 97 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:26539891 |
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NCBI chr11:47,146,409...47,174,460
Ensembl chr11:47,146,308...47,174,713
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Chaf1b |
chromatin assembly factor 1 subunit B |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 |
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NCBI chr11:34,101,248...34,121,371
Ensembl chr11:34,101,197...34,121,378
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Champ1 |
chromosome alignment maintaining phosphoprotein 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr16:80,839,373...80,850,340
Ensembl chr16:80,839,374...80,850,340
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Chd4 |
chromodomain helicase DNA binding protein 4 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Global developmental delay |
CTD ClinVar |
PMID:30559488 |
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NCBI chr 4:157,612,531...157,645,660
Ensembl chr 4:157,612,536...157,645,659
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Chrm4 |
cholinergic receptor, muscarinic 4 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 3:80,833,272...80,841,165
Ensembl chr 3:80,833,272...80,841,006
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Chrna4 |
cholinergic receptor nicotinic alpha 4 subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20805988 |
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NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208
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Clcn6 |
chloride voltage-gated channel 6 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 5:164,811,815...164,844,554
Ensembl chr 5:164,811,816...164,844,586
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Clip1 |
CAP-GLY domain containing linker protein 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr12:38,345,203...38,452,650
Ensembl chr12:38,345,456...38,452,652
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Cntn4 |
contactin 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15106122 |
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NCBI chr 4:137,785,166...138,787,527
Ensembl chr 4:138,269,142...138,787,525
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Cog4 |
component of oligomeric golgi complex 4 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr19:43,358,057...43,391,828
Ensembl chr19:43,358,057...43,391,828
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Col1a2 |
collagen type I alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:30311386 |
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NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
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Coprs |
coordinator of PRMT5 and differentiation stimulator |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22241097 |
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NCBI chr16:80,826,681...80,831,791
Ensembl chr16:80,826,681...80,831,791
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Cpa6 |
carboxypeptidase A6 |
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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 |
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NCBI chr 5:8,215,443...8,574,655
Ensembl chr 5:8,459,660...8,574,655
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Cplane1 |
ciliogenesis and planar polarity effector 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25407461 PMID:25558065 PMID:25741868 PMID:26092869 PMID:28125082 PMID:28492532 |
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NCBI chr 2:57,274,175...57,350,003 NCBI chr 2:57,444,373...57,472,465
Ensembl chr 2:57,276,919...57,348,481
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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 3:80,892,433...80,933,283
Ensembl chr 3:80,892,435...80,933,283
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G |
Crebbp |
CREB binding protein |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
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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 chr10:67,383,664...67,401,836
Ensembl chr10:67,383,900...67,401,836
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G |
Crybg1 |
crystallin beta-gamma domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr20:48,927,942...49,123,724
Ensembl chr20:48,927,914...48,969,499
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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 |
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NCBI chr 5:8,761,293...8,876,205
Ensembl chr 5:8,761,293...8,864,578
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G |
Cul4b |
cullin 4B |
|
ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:8135271 PMID:17236139 PMID:17273978 PMID:25741868 |
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NCBI chr X:124,831,391...124,870,329
Ensembl chr X:124,832,628...124,870,329
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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 chr10:31,278,746...31,419,235
Ensembl chr10:31,278,746...31,419,235
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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 |
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NCBI chr 2:236,414,131...236,431,650
Ensembl chr 2:236,414,135...236,431,683
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G |
Dchs1 |
dachsous cadherin-related 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:170,594,981...170,629,062
Ensembl chr 1:170,594,822...170,628,915
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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 |
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NCBI chr X:10,400,363...10,414,010
Ensembl chr X:10,400,366...10,413,995
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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 |
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NCBI chr14:83,089,000...83,219,576
Ensembl chr14:83,089,000...83,219,464
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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 3:80,844,002...80,886,487
Ensembl chr 3:80,844,005...80,875,817
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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: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:15952211 PMID:16761297 PMID:16906538 PMID:17965227 PMID:18285838 PMID:19365639 PMID:20635399 PMID:21777499 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 |
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NCBI chr 1:217,018,916...217,034,890
Ensembl chr 1:217,018,916...217,034,904
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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 8:118,160,315...118,194,674
Ensembl chr 8:118,160,299...118,187,791
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G |
Dhx58 |
DEXH-box helicase 58 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr10:88,599,722...88,611,562
Ensembl chr10:88,599,680...88,611,105
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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 chr18:30,972,907...31,071,371
Ensembl chr18:30,972,907...31,071,371
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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 5:134,767,436...134,792,840
Ensembl chr 5:134,767,436...134,776,247
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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 1:170,473,792...170,570,220
Ensembl chr 1:170,471,272...170,565,063
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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 8:115,627,282...115,982,260
Ensembl chr 8:115,629,583...115,981,910
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G |
Dock8 |
dedicator of cytokinesis 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18060736 |
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NCBI chr 1:242,934,685...243,153,472
Ensembl chr 1:242,959,488...243,153,465
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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 5:136,723,398...136,726,358
Ensembl chr 5:136,723,406...136,726,358
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G |
Dpyd |
dihydropyrimidine dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 PMID:9439663 PMID:9470816 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:19795123 PMID:19858398 PMID:20385995 PMID:20507294 PMID:20530282 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:29065426 PMID:29134491 PMID:29152729 PMID:30348537 |
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NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
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G |
Drd2 |
dopamine receptor D2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21592505 |
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NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
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G |
Dsp |
desmoplakin |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741904 |
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NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
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G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental delay ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25590979 PMID:25741868 PMID:27754416 PMID:29286531 |
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NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
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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 |
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NCBI chr11:34,858,339...34,958,733
Ensembl chr11:34,865,532...34,956,536
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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 |
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NCBI chr 1:191,997,512...192,025,350
Ensembl chr 1:191,997,512...192,025,350
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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 |
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NCBI chr 1:209,523,153...209,641,143
Ensembl chr 1:209,523,157...209,641,123
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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 chr10:90,932,071...90,983,971
Ensembl chr10:90,932,075...90,983,928
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G |
Ehmt1 |
euchromatic histone lysine methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 3:1,966,974...2,123,858
Ensembl chr 3:1,960,957...2,123,820
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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 6:1,428,845...1,466,193
Ensembl chr 6:1,428,834...1,466,201
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G |
Emc1 |
ER membrane protein complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 5:157,820,908...157,846,226
Ensembl chr 5:157,820,908...157,846,226
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G |
Entpd1 |
ectonucleoside triphosphate diphosphohydrolase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:259,692,020...259,818,922
Ensembl chr 1:259,739,955...259,819,494
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G |
Ep300 |
E1A binding protein p300 |
|
ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
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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 chr16:60,307,148...60,327,237
Ensembl chr16:60,307,148...60,327,236
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G |
Evi2a |
ecotropic viral integration site 2A |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22241097 |
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NCBI chr10:66,870,048...66,873,948
Ensembl chr10:66,870,067...66,873,948
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G |
Evi2b |
ecotropic viral integration site 2B |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22241097 |
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NCBI chr10:66,856,980...66,858,598
Ensembl chr10:66,856,980...66,858,598
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G |
Fancd2 |
FA complementation group D2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 4:145,489,869...145,551,479
Ensembl chr 4:145,489,869...145,551,479
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G |
Fancd2os |
FANCD2 opposite strand |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 4:145,549,248...145,556,054
Ensembl chr 4:145,552,270...145,555,748
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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 chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
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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 chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
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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 6:69,971,227...69,974,037
Ensembl chr 6:69,971,227...69,974,037
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G |
Foxp4 |
forkhead box P4 |
|
ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
|
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NCBI chr 9:15,068,378...15,124,962
Ensembl chr 9:15,068,399...15,125,318
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G |
Foxred1 |
FAD-dependent oxidoreductase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 8:36,401,317...36,410,589
Ensembl chr 8:36,403,493...36,410,612
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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:25741868 |
|
NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364
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G |
Gk |
glycerol kinase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr X:54,227,291...54,303,897
Ensembl chr X:54,227,397...54,303,864
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G |
Gli3 |
GLI family zinc finger 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
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NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
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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 9:82,632,267...82,639,811
Ensembl chr 9:82,632,230...82,639,821
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G |
Gmppb |
GDP-mannose pyrophosphorylase B |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:116,826,251...116,856,159
Ensembl chr 8:116,826,680...116,856,159
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G |
Gnb1 |
G protein subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:30194818 PMID:31735425 PMID:32963807 |
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NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
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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 |
|
NCBI chr 8:82,248,951...82,286,493
Ensembl chr 8:82,257,849...82,285,184
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G |
Golph3 |
golgi phosphoprotein 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:62,360,754...62,388,773
Ensembl chr 2:62,360,754...62,388,771
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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 |
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NCBI chr 4:157,264,383...157,266,042
Ensembl chr 4:157,264,383...157,266,018
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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 |
|
NCBI chr X:127,561,843...127,829,763
Ensembl chr X:127,562,660...127,829,753
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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 |
|
NCBI chr 3:2,507,745...2,534,664
Ensembl chr 3:2,506,896...2,534,663
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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 |
|
NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
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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 |
|
NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
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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 |
|
NCBI chr 1:4,753,141...5,165,859
Ensembl chr 1:4,753,144...5,165,859
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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 |
|
NCBI chr 4:142,452,616...143,368,460
Ensembl chr 4:142,780,987...143,367,578
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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 chr16:19,897,135...19,902,226
Ensembl chr16:19,896,986...19,902,245
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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:26437029 PMID:32581362 |
|
NCBI chr20:50,652,489...50,783,937
Ensembl chr20:50,652,745...50,783,937
|
|
G |
Harbi1 |
harbinger transposase derived 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
|
NCBI chr 3:80,614,886...80,624,213
Ensembl chr 3:80,614,937...80,624,205
|
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G |
Hdac8 |
histone deacetylase 8 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:26671848 |
|
NCBI chr X:72,163,777...72,370,058
Ensembl chr X:72,163,777...72,370,044
|
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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 |
|
NCBI chr 1:114,453,033...114,653,787
Ensembl chr 1:114,453,054...114,653,793
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G |
Hexa |
hexosaminidase subunit alpha |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:1318511 PMID:1831451 PMID:1832817 PMID:2521932 PMID:2961848 PMID:2973311 PMID:7551830 PMID:8730294 PMID:16088929 PMID:17015493 PMID:18490185 PMID:20100466 PMID:22441121 PMID:22789865 PMID:25741868 PMID:25741876 PMID:28492532 |
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NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
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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 chr12:38,828,606...38,839,956
Ensembl chr12:38,828,444...38,839,969
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G |
Hspb11 |
heat shock protein family B (small), member 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31546644 |
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NCBI chr 5:126,856,128...126,882,913
Ensembl chr 5:126,856,705...126,882,909
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G |
Hspb9 |
heat shock protein family B (small) member 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31546644 |
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NCBI chr10:88,620,655...88,621,300
Ensembl chr10:88,620,655...88,621,300
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G |
Huwe1 |
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741905 |
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NCBI chr X:21,474,627...21,603,348
Ensembl chr X:21,499,934...21,598,876
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G |
Ids |
iduronate 2-sulfatase |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 8:69,447,971...69,466,708
Ensembl chr 8:69,449,801...69,466,618
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G |
Isca2 |
iron-sulfur cluster assembly 2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25434003 PMID:25539947 PMID:25558065 PMID:25741868 PMID:29122497 PMID:29297947 PMID:29470032 |
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NCBI chr 6:108,488,678...108,490,188
Ensembl chr 6:108,488,678...108,490,188
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G |
Kansl1 |
KAT8 regulatory NSL complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22544367 PMID:25741868 PMID:25741877 |
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NCBI chr10:92,388,045...92,517,449
Ensembl chr10:92,389,530...92,476,109
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G |
Kat14 |
lysine acetyltransferase 14 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:26539891 |
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NCBI chr 3:138,508,899...138,549,437
Ensembl chr 3:138,504,214...138,549,437
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G |
Kcnn2 |
potassium calcium-activated channel subfamily N member 2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:16002581 PMID:25741868 |
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NCBI chr18:39,331,894...39,479,574
Ensembl chr18:39,335,377...39,479,257
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
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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:32581362 |
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NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
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G |
Kcnq5 |
potassium voltage-gated channel subfamily Q member 5 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741879 |
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NCBI chr 9:27,565,869...28,141,114
Ensembl chr 9:27,562,959...27,761,733
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G |
Kcnt1 |
potassium sodium-activated channel subfamily T member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23086397 |
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NCBI chr 3:3,310,641...3,366,558
Ensembl chr 3:3,310,954...3,365,340
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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 5:154,909,003...154,965,171
Ensembl chr 5:154,909,003...154,965,171
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G |
Kdm2b |
lysine demethylase 2B |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr12:39,021,924...39,161,954
Ensembl chr12:39,078,119...39,161,956
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G |
Kdm3b |
lysine demethylase 3B |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr18:27,593,823...27,631,129
Ensembl chr18:27,576,129...27,631,088
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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 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
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G |
Kif5b |
kinesin family member 5B |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr17:54,181,416...54,219,048
Ensembl chr17:54,181,419...54,212,096
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G |
Kirrel3 |
kirre like nephrin family adhesion molecule 3 |
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ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 8:35,692,525...36,254,755
Ensembl chr 8:36,125,999...36,254,753
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G |
Kmt2b |
lysine methyltransferase 2B |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741878 |
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NCBI chr 1:89,022,889...89,042,176
Ensembl chr 1:89,023,200...89,042,176
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G |
Kmt2c |
lysine methyltransferase 2C |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:29926297 |
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NCBI chr 4:82,506...109,986 NCBI chr 4:6,083,650...6,294,413
Ensembl chr 4:6,083,736...6,292,516
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G |
Las1l |
LAS1-like, ribosome biogenesis factor |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25644381 |
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NCBI chr X:65,081,591...65,102,344
Ensembl chr X:65,081,591...65,102,380
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G |
Lifr |
LIF receptor subunit alpha |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:30311386 |
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NCBI chr 2:56,424,910...56,489,346
Ensembl chr 2:56,426,367...56,489,415
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G |
Lmbrd2 |
LMBR1 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:32820033 |
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NCBI chr 2:58,534,474...58,590,767
Ensembl chr 2:58,534,476...58,590,758
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G |
LOC690000 |
similar to CG3740-PA |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:26539891 |
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NCBI chr 1:94,572,714...94,587,842
Ensembl chr 1:94,579,080...94,587,219
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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 2:206,928,708...206,997,915
Ensembl chr 2:206,931,204...206,997,519
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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:28492532 |
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NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
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G |
Lrrc32 |
leucine rich repeat containing 32 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:30976112 |
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NCBI chr 1:163,443,972...163,457,426
Ensembl chr 1:163,445,527...163,457,424
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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 chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
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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 2:29,675,391...29,768,750
Ensembl chr 2:29,675,391...29,768,750
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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 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
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G |
Mcph1 |
microcephalin 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 |
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NCBI chr16:75,904,087...76,110,624
Ensembl chr16:75,904,006...76,110,553
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G |
Mdk |
midkine |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 3:80,841,003...80,843,895
Ensembl chr 3:80,841,005...80,842,916
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G |
Mea1 |
male-enhanced antigen 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:18414213 PMID:25533962 PMID:25741868 PMID:25741882 PMID:25972378 PMID:26168268 PMID:30676711 |
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NCBI chr 9:16,610,312...16,614,153
Ensembl chr 9:16,610,315...16,612,136
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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 |
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NCBI chr X:156,650,389...156,713,813
Ensembl chr X:156,655,960...156,705,233
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G |
Med12 |
mediator complex subunit 12 |
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ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr X:71,174,653...71,197,812
Ensembl chr X:71,174,699...71,197,812
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G |
Med13l |
mediator complex subunit 13L |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741884 |
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NCBI chr12:43,421,317...43,576,859
Ensembl chr12:43,421,308...43,576,804
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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 |
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NCBI chr 6:91,476,698...91,479,187
Ensembl chr 6:91,476,698...91,479,183
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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 chr10:67,065,885...67,065,996
Ensembl chr10:67,065,885...67,065,996
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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:25741868 PMID:26467025 PMID:26552419 PMID:28492532 PMID:28514183 PMID:28767289 PMID:30504929 |
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NCBI chr 8:119,486,655...119,523,716
Ensembl chr 8:119,486,691...119,523,964
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G |
Morc2 |
MORC family CW-type zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741893 PMID:26497905 PMID:27105897 PMID:28492532 |
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NCBI chr14:83,889,138...83,930,263
Ensembl chr14:83,889,089...83,930,522
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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:107,394,468...107,405,564
Ensembl chr X:107,394,486...107,405,564
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G |
Mpp4 |
membrane palmitoylated protein 4 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 9:65,917,917...65,961,274
Ensembl chr 9:65,917,917...65,957,101
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G |
Msl3 |
MSL complex subunit 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30224647 |
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NCBI chr X:27,015,826...27,033,562
Ensembl chr X:27,015,884...27,033,555
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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 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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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:25741892 PMID:28492532 |
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NCBI chr 8:85,807,703...85,832,263
Ensembl chr 8:85,808,125...85,831,937
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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 chr19:40,904,779...40,925,660
Ensembl chr19:40,905,847...40,925,660
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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 chr10:55,274,910...55,406,738
Ensembl chr10:55,275,411...55,406,732
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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 chr10:46,840,098...46,897,362
Ensembl chr10:46,840,113...46,896,054
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G |
Nans |
N-acetylneuraminate synthase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27213289 |
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NCBI chr 5:62,109,352...62,126,492
Ensembl chr 5:62,109,328...62,126,494
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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 3:67,725,180...67,804,680
Ensembl chr 3:67,725,947...67,787,990
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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 chr10:48,629,121...48,772,890
Ensembl chr10:48,629,121...48,772,890
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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 5:126,976,636...127,022,941
Ensembl chr 5:126,976,456...127,022,939
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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 chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
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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 chr15:10,405,453...10,455,973
Ensembl chr15:10,405,164...10,455,956
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G |
Nipbl |
NIPBL, cohesin loading factor |
|
ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 2:57,508,830...57,676,197
Ensembl chr 2:57,509,428...57,600,820
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G |
Nmnat1 |
nicotinamide nucleotide adenylyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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:32581362 |
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NCBI chr 5:166,409,460...166,430,291
Ensembl chr 5:166,409,461...166,430,254
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G |
Nol11 |
nucleolar protein 11 |
|
ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:28942966 |
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NCBI chr10:95,388,223...95,408,053
Ensembl chr10:95,388,888...95,407,997
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G |
Npc2 |
NPC intracellular cholesterol transporter 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 PMID:28492532 |
|
NCBI chr 6:108,467,410...108,488,330
Ensembl chr 6:108,467,410...108,488,330
|
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G |
Nr2f1 |
nuclear receptor subfamily 2, group F, member 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:5,569,954...5,579,894
Ensembl chr 2:5,569,935...5,579,894
|
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G |
Nsmce2 |
NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr 7:99,677,295...99,900,765
Ensembl chr 7:99,677,290...99,900,764
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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 1:36,295,650...36,319,906
Ensembl chr 1:36,295,650...36,319,966
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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 3:7,742,511...7,800,834
Ensembl chr 3:7,742,531...7,796,385
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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 chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
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G |
Nup107 |
nucleoporin 107 |
|
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 7:60,781,724...60,825,225
Ensembl chr 7:60,781,729...60,825,242
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G |
Nup155 |
nucleoporin 155 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 2:57,206,665...57,258,242
Ensembl chr 2:57,206,613...57,258,295
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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 3:9,227,869...9,236,878 NCBI chr 3:10,993,584...11,070,638
Ensembl chr 3:9,227,823...9,236,736 Ensembl chr 3:9,227,823...9,236,736
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G |
Ocln |
occludin |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 |
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NCBI chr 2:30,527,327...30,577,218
Ensembl chr 2:30,527,715...30,577,218
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G |
Omg |
oligodendrocyte-myelin glycoprotein |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22241097 |
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NCBI chr10:66,845,654...66,848,388
Ensembl chr10:66,845,654...66,848,388
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G |
Otc |
ornithine transcarbamylase |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr X:13,524,804...13,601,074
Ensembl chr X:13,524,607...13,601,069
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G |
Pacs1 |
phosphofurin acidic cluster sorting protein 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:23159249 PMID:25326635 PMID:25356970 PMID:25522177 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:29550517 PMID:30113927 PMID:30588754 PMID:30690871 PMID:32963807 |
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NCBI chr 1:220,515,117...220,645,611
Ensembl chr 1:220,516,316...220,644,636
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G |
Parp10 |
poly (ADP-ribose) polymerase family, member 10 |
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ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 7:117,291,592...117,300,878
Ensembl chr 7:117,291,877...117,300,662
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G |
Pc |
pyruvate carboxylase |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741903 |
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NCBI chr 1:219,759,157...219,859,854
Ensembl chr 1:219,759,183...219,859,848
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G |
Pccb |
propionyl-CoA carboxylase subunit beta |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:109,368,887...109,418,871
Ensembl chr 8:109,368,624...109,418,872
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G |
Pcdh19 |
protocadherin 19 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:5116697 PMID:18469813 PMID:22267240 PMID:22946748 PMID:23334464 PMID:25741868 PMID:27143072 PMID:27527380 PMID:28492532 |
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NCBI chr X:104,387,346...104,493,914
Ensembl chr X:104,391,607...104,493,757
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G |
Pcgf2 |
polycomb group ring finger 2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:15525528 PMID:25741868 PMID:25741869 PMID:25741894 PMID:30343942 |
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NCBI chr10:85,631,829...85,642,591
Ensembl chr10:85,632,819...85,636,902
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G |
Pcnt |
pericentrin |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr20:12,943,523...13,038,615
Ensembl chr20:12,944,786...13,038,431
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G |
Pde10a |
phosphodiesterase 10A |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:27058446 PMID:32581362 |
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NCBI chr 1:52,360,296...52,544,448
Ensembl chr 1:52,360,296...52,544,450
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G |
Pdzd2 |
PDZ domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 2:62,399,748...62,520,448
Ensembl chr 2:62,399,748...62,634,785
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G |
Pepd |
peptidase D |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 1:90,820,670...91,285,128
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G |
Pex1 |
peroxisomal biogenesis factor 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 4:27,659,376...27,698,037
Ensembl chr 4:27,659,381...27,698,037
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G |
Pgap3 |
post-GPI attachment to proteins phospholipase 3 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:30345601 |
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NCBI chr10:86,343,058...86,356,146
Ensembl chr10:86,343,064...86,355,006
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G |
Phactr1 |
phosphatase and actin regulator 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr17:23,245,423...23,761,207
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G |
Pigc |
phosphatidylinositol glycan anchor biosynthesis, class C |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741900 |
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NCBI chr13:79,886,832...79,889,305
Ensembl chr13:79,886,832...79,889,304
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G |
Pigq |
phosphatidylinositol glycan anchor biosynthesis, class Q |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 |
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NCBI chr10:15,289,530...15,305,593
Ensembl chr10:15,289,536...15,305,549
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G |
Pigt |
phosphatidylinositol glycan anchor biosynthesis, class T |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:27916860 PMID:30976099 PMID:32581362 |
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NCBI chr 3:160,945,556...160,954,738
Ensembl chr 3:160,945,359...160,954,739
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G |
Pigw |
phosphatidylinositol glycan anchor biosynthesis, class W |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr10:72,194,774...72,198,415
Ensembl chr10:72,194,929...72,196,437
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G |
Pik3r2 |
phosphoinositide-3-kinase regulatory subunit 2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr16:20,415,109...20,424,982
Ensembl chr16:20,416,432...20,424,980
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G |
Plp1 |
proteolipid protein 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr X:107,494,326...107,511,355
Ensembl chr X:107,496,072...107,511,348
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G |
Pmp22 |
peripheral myelin protein 22 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17275665 |
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NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
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G |
Pnkp |
polynucleotide kinase 3'-phosphatase |
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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 1:100,853,475...100,859,202
Ensembl chr 1:100,853,902...100,859,084
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G |
Pogz |
pogo transposable element derived with ZNF domain |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 2:195,995,322...196,041,500
Ensembl chr 2:195,996,521...196,041,497
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:12210792 PMID:12297582 PMID:12707443 PMID:12825077 PMID:12975295 PMID:14635118 PMID:15349879 PMID:15689359 PMID:16401742 PMID:16621917 PMID:18487244 PMID:18546365 PMID:18828154 PMID:19189930 PMID:19578034 PMID:20385918 PMID:20513108 PMID:21138766 PMID:21880868 PMID:22616202 PMID:23324391 PMID:23448099 PMID:23665194 PMID:23783014 PMID:23804100 PMID:24508722 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25940035 PMID:26104464 PMID:26337858 PMID:26467025 PMID:26468652 PMID:27538604 PMID:28130605 PMID:28154168 PMID:28492532 PMID:28812649 PMID:29474836 PMID:32019516 |
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NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
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G |
Porcn |
porcupine O-acyltransferase |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741874 |
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NCBI chr X:15,035,569...15,048,440
Ensembl chr X:15,035,569...15,048,440
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G |
Ppp2r5d |
protein phosphatase 2, regulatory subunit B', delta |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:18414213 PMID:25533962 PMID:25741868 PMID:25741882 PMID:25972378 PMID:26168268 PMID:30676711 |
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NCBI chr 9:16,580,995...16,610,425
Ensembl chr 9:16,586,803...16,609,631
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G |
Prorp |
protein only RNase P catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 6:76,079,880...76,171,298
Ensembl chr 6:76,079,880...76,171,296
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G |
Prps1 |
phosphoribosyl pyrophosphate synthetase 1 |
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ISO |
N113S, D182H |
RGD |
PMID:8253776 |
RGD:1599725 |
NCBI chr X:111,798,233...111,820,270
Ensembl chr X:111,798,233...111,820,266
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G |
Prrt2 |
proline-rich transmembrane protein 2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 1:198,451,042...198,454,998
Ensembl chr 1:198,451,324...198,454,914
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G |
Psmd12 |
proteasome 26S subunit, non-ATPase 12 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr10:95,706,808...95,725,452
Ensembl chr10:95,706,685...95,725,812
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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 |
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NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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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:15987685 PMID:16358218 PMID:17020470 PMID:17339163 PMID:17361219 PMID:18372317 PMID:19020799 PMID:19737548 PMID:20308328 PMID:21706501 PMID:21901340 PMID:22315187 PMID:23584145 PMID:24033266 PMID:24628801 PMID:25585602 PMID:25741868 PMID:28363362 PMID:28492532 PMID:30311386 PMID:32581362 |
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NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
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G |
Ptpn23 |
protein tyrosine phosphatase, non-receptor type 23 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 PMID:25741868 PMID:31395947 |
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NCBI chr 8:118,628,777...118,651,238
Ensembl chr 8:118,628,777...118,651,238
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G |
Pura |
purine rich element binding protein A |
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ISO |
ClinVar Annotator: match by term: Developmental delay, global ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25439098 PMID:25741868 PMID:28448108 PMID:28492532 PMID:32860008 |
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NCBI chr18:29,104,712...29,114,918
Ensembl chr18:29,110,242...29,111,156
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G |
Qrsl1 |
glutaminyl-tRNA amidotransferase subunit QRSL1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr20:48,855,839...48,881,112
Ensembl chr20:48,855,914...48,881,119
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G |
Rab11fip4 |
RAB11 family interacting protein 4 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22241097 |
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NCBI chr10:66,942,363...67,051,672
Ensembl chr10:66,942,398...67,048,308
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G |
Rab3gap2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:28492532 |
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NCBI chr13:103,157,806...103,229,010
Ensembl chr13:103,157,806...103,228,423
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G |
Rab9b |
RAB9B, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr X:107,531,404...107,542,510
Ensembl chr X:107,531,404...107,542,510
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G |
Rac1 |
Rac family small GTPase 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741888 PMID:28886345 |
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NCBI chr12:13,090,316...13,111,841
Ensembl chr12:13,090,172...13,111,873
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G |
Rapsn |
receptor-associated protein of the synapse |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:16931511 PMID:17686188 PMID:25741902 PMID:26467025 |
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NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
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G |
Rbm8a |
RNA binding motif protein 8A |
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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 2:198,755,261...198,758,028
Ensembl chr 2:198,755,262...198,758,028
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G |
RGD1307947 |
similar to RIKEN cDNA C430008C19 |
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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 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
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G |
RGD1309106 |
similar to hypothetical protein |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741900 |
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NCBI chr13:79,856,479...79,901,830
Ensembl chr13:79,856,479...79,899,479
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G |
Rnaseh2b |
ribonuclease H2, subunit B |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr15:45,422,010...45,472,792
Ensembl chr15:45,422,010...45,464,892
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G |
Rnf135 |
ring finger protein 135 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22241097 |
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NCBI chr10:67,531,989...67,551,237
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G |
Rps6ka3 |
ribosomal protein S6 kinase A3 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr X:37,469,736...37,576,055
Ensembl chr X:37,469,937...37,575,624
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G |
Rps6kc1 |
ribosomal protein S6 kinase C1 |
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ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
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NCBI chr13:109,338,761...109,589,209
Ensembl chr13:109,338,762...109,483,891
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G |
Rrp8 |
ribosomal RNA processing 8 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 1:170,574,670...170,578,693
Ensembl chr 1:170,574,349...170,579,616
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G |
Rtn4ip1 |
reticulon 4 interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:48,881,124...48,924,921
Ensembl chr20:48,881,194...48,925,081
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G |
Rubcn |
rubicon autophagy regulator |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr11:71,150,506...71,199,254
Ensembl chr11:71,151,132...71,197,035
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G |
Satb2 |
SATB homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 9:63,456,877...63,642,193
Ensembl chr 9:63,456,783...63,641,400
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:17347258 PMID:18804930 PMID:23895530 PMID:25348405 PMID:25401298 PMID:25741868 PMID:28012175 PMID:28492532 PMID:31791873 PMID:32581362 |
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NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:32581362 |
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NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
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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:32581362 |
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NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
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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 |
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NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
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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 chr12:38,843,167...38,869,180
Ensembl chr12:38,845,621...38,869,346
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G |
Setd5 |
SET domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr 4:145,017,549...145,095,247
Ensembl chr 4:145,017,608...145,095,245
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G |
Sgsh |
N-sulfoglucosamine sulfohydrolase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:7493035 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 |
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NCBI chr10:108,469,312...108,479,094
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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 |
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NCBI chr 7:130,474,278...130,534,679
Ensembl chr 7:130,474,279...130,534,679
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G |
Sil1 |
SIL1 nucleotide exchange factor |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:32581362 |
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NCBI chr18:28,067,476...28,302,008
Ensembl chr18:28,067,484...28,301,863
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G |
Slc13a5 |
solute carrier family 13 member 5 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 |
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NCBI chr10:58,806,581...58,835,549
Ensembl chr10:58,810,058...58,834,538
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G |
Slc1a3 |
solute carrier family 1 member 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 2:57,860,881...57,935,363
Ensembl chr 2:57,860,834...57,935,363
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G |
Slc25a22 |
solute carrier family 25 member 22 |
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ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:214,410,388...214,418,236
Ensembl chr 1:214,410,417...214,414,897
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G |
Slc2a1 |
solute carrier family 2 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9462754 PMID:10980529 PMID:11603379 |
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NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
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G |
Slc33a1 |
solute carrier family 33 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Global developmental delay |
CTD ClinVar |
PMID:22243965 PMID:32581362 |
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NCBI chr 2:154,520,170...154,542,981
Ensembl chr 2:154,520,087...154,542,919
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G |
Slc35f1 |
solute carrier family 35, member F1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:24824130 |
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NCBI chr20:33,772,314...34,420,970
Ensembl chr20:34,258,791...34,420,824
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G |
Slc4a4 |
solute carrier family 4 member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18614622 |
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NCBI chr14:20,476,258...20,817,042
Ensembl chr14:20,479,323...20,920,286
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G |
Slc6a1 |
solute carrier family 6 member 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:32581362 |
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NCBI chr 4:146,258,842...146,292,176
Ensembl chr 4:146,276,862...146,292,213
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G |
Slc6a8 |
solute carrier family 6 member 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11326334 |
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NCBI chr X:157,129,987...157,139,321
Ensembl chr X:157,129,987...157,139,291
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G |
Slc9a6 |
solute carrier family 9 member A6 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:32581362 PMID:32860008 |
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NCBI chr X:158,979,081...159,045,019
Ensembl chr X:158,978,755...159,045,044
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G |
Slitrk6 |
SLIT and NTRK-like family, member 6 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741897 |
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NCBI chr15:95,507,632...95,514,259
Ensembl chr15:95,507,640...95,514,259
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G |
Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
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G |
Smc1a |
structural maintenance of chromosomes 1A |
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ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr X:21,710,976...21,755,708
Ensembl chr X:21,711,019...21,755,525
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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 1:81,259,450...81,282,893
Ensembl chr 1:81,260,548...81,282,887
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G |
Son |
SON DNA and RNA binding protein |
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ISO |
ClinVar Annotator: match by term: Developmental delay ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25590979 PMID:27256762 PMID:27545676 PMID:27545680 |
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NCBI chr11:31,806,598...31,837,769
Ensembl chr11:31,806,618...31,837,763
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G |
Sox5 |
SRY-box transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 4:178,062,267...179,031,991
Ensembl chr 4:178,066,165...178,441,547
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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 1:84,168,494...84,254,679
Ensembl chr 1:84,168,495...84,254,645
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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 4:45,000,223...45,247,793
Ensembl chr 4:45,000,973...45,247,790
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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 8:108,958,099...109,342,738
Ensembl chr 8:108,958,046...109,342,738
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G |
Stambp |
Stam binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23542699 |
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NCBI chr 4:115,249,343...115,277,340
Ensembl chr 4:115,249,351...115,275,068
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G |
Stxbp1 |
syntaxin binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26865513 |
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NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
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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 chr15:55,461,695...55,516,954
Ensembl chr15:55,461,695...55,516,952
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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 chr10:67,325,101...67,371,588
Ensembl chr10:67,325,347...67,369,668
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G |
Syngap1 |
synaptic Ras GTPase activating protein 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental delay ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:5,535,434...5,564,657
Ensembl chr20:5,535,432...5,564,437
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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 chr12:19,320,269...19,328,706
Ensembl chr12:19,320,271...19,328,637
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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 chr10:93,811,350...94,132,418
Ensembl chr10:93,811,350...94,127,697
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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 3:132,888,785...133,131,213
Ensembl chr 3:132,888,772...133,131,192
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G |
Tbc1d24 |
TBC1 domain family, member 24 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:32581362 |
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NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
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G |
Tbcd |
tubulin folding cofactor D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27666370 |
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NCBI chr10:110,643,693...110,800,493
Ensembl chr10:110,643,759...110,800,493
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G |
Tbck |
TBC1 domain containing kinase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 PMID:25741868 PMID:27040691 PMID:27040692 PMID:28492532 PMID:29283439 PMID:31618753 |
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NCBI chr 2:237,751,646...237,958,497
Ensembl chr 2:237,751,654...237,958,497
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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:107,370,351...107,372,347
Ensembl chr X:107,370,431...107,372,338
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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:107,322,077...107,324,054
Ensembl chr 2:102,370,158...102,370,757 Ensembl chr X:102,370,158...102,370,757
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G |
Tcf4 |
transcription factor 4 |
|
ISO |
ClinVar Annotator: match by term: Developmental delay ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741890 |
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NCBI chr18:65,285,320...65,507,983
Ensembl chr18:65,155,685...65,507,977
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G |
Tctn1 |
tectonic family member 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 PMID:26092869 |
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NCBI chr12:39,790,948...39,828,215
Ensembl chr12:39,790,965...39,824,064
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G |
Tefm |
transcription elongation factor, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22241097 |
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NCBI chr10:67,476,006...67,478,830
Ensembl chr10:67,475,968...67,479,077
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G |
Tet3 |
tet methylcytosine dioxygenase 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 4:115,060,702...115,160,800
Ensembl chr 4:115,066,309...115,157,263
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G |
Tmem67 |
transmembrane protein 67 |
|
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 |
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NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
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G |
Tmem92 |
transmembrane protein 92 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 |
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NCBI chr10:82,545,238...82,575,822
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G |
Tnrc6b |
trinucleotide repeat containing adaptor 6B |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 7:121,930,610...122,147,934
Ensembl chr 7:121,930,615...122,147,934
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G |
Tp53rk |
TP53 regulating kinase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:32581362 |
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NCBI chr 3:163,552,166...163,555,925
Ensembl chr 3:163,552,166...163,555,596
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G |
Tpo |
thyroid peroxidase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 6:49,020,918...49,089,855
Ensembl chr 6:49,021,044...49,089,855
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G |
Trh |
thyrotropin releasing hormone |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 4:124,110,716...124,113,242
Ensembl chr 4:124,110,716...124,113,242
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G |
Trpm3 |
transient receptor potential cation channel, subfamily M, member 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:31278393 |
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NCBI chr 1:239,741,572...240,757,583
Ensembl chr 1:240,355,149...240,757,583
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G |
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 chr12:11,537,950...11,627,563
Ensembl chr12:11,537,950...11,627,563
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G |
Tsen15 |
tRNA splicing endonuclease subunit 15 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 PMID:27392077 |
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NCBI chr13:69,765,093...69,781,019
Ensembl chr13:69,765,091...69,781,019
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G |
Tsen54 |
tRNA splicing endonuclease subunit 54 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 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:29410950 |
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NCBI chr10:104,358,401...104,366,926
Ensembl chr10:104,359,342...104,366,926
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G |
Tuba1a |
tubulin, alpha 1A |
|
ISO |
DNA:missense mutation:exon: ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:18414213 PMID:25741868 PMID:30087272 PMID:30744660 PMID:32581362, PMID:22101068 |
RGD:12859087 |
NCBI chr 7:140,637,287...140,640,953
Ensembl chr 7:140,637,287...140,640,953
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G |
Tubb4a |
tubulin, beta 4A class IVa |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:24785942 PMID:32581362 |
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NCBI chr 9:9,961,020...9,968,420
Ensembl chr 9:9,961,021...9,968,486
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G |
Ube3a |
ubiquitin protein ligase E3A |
|
ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
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NCBI chr 1:116,586,901...116,678,161
Ensembl chr 1:116,587,815...116,679,973
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G |
Unc80 |
unc-80 homolog, NALCN channel complex subunit |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 9:73,492,907...73,686,578
Ensembl chr 9:73,493,027...73,683,000
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G |
Vps13b |
vacuolar protein sorting 13 homolog B |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:15173253 PMID:25741868 PMID:32581362 |
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NCBI chr 7:74,118,834...74,722,341
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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 chr16:9,194,446...9,430,764
Ensembl chr16:9,194,424...9,430,743
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G |
Wdr37 |
WD repeat domain 37 |
|
ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:31327508 PMID:31327510 PMID:31474318 |
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NCBI chr17:57,983,937...58,051,011
Ensembl chr17:57,983,937...58,050,992
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G |
Wdr45 |
WD repeat domain 45 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:23176820 PMID:23687123 PMID:25356899 PMID:25741868 PMID:25741886 PMID:25741887 PMID:28492532 PMID:28932395 PMID:29171013 PMID:29981852 |
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NCBI chr X:15,621,249...15,627,159
Ensembl chr X:15,621,209...15,627,235
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G |
Wdr62 |
WD repeat domain 62 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 1:90,995,545...91,034,592
Ensembl chr 1:88,694,824...88,734,223
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G |
Wdr70 |
WD repeat domain 70 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 2:56,944,462...57,196,522
Ensembl chr 2:56,944,460...57,196,568
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G |
Wwox |
WW domain-containing oxidoreductase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:24456803 PMID:25411445 PMID:25558065 PMID:25741868 PMID:27717089 PMID:28492532 PMID:29852413 |
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NCBI chr19:46,761,353...47,695,247
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G |
Yars1 |
tyrosyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:27633801 |
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NCBI chr 5:147,375,350...147,403,578
Ensembl chr 5:147,375,350...147,403,571
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G |
Zfp142 |
zinc finger protein 142 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 9:81,844,138...81,868,086
Ensembl chr 9:81,844,138...81,868,086
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G |
Zmynd11 |
zinc finger, MYND-type containing 11 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741899 |
|
NCBI chr17:63,825,616...63,914,740
Ensembl chr17:63,825,627...63,879,171
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G |
Colec10 |
collectin subfamily member 10 |
|
ISO |
ClinVar Annotator: match by term: Malpuech facial clefting syndrome |
ClinVar OMIM |
PMID:28301481 |
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NCBI chr 7:93,975,451...94,035,999
Ensembl chr 7:93,975,451...94,035,999
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G |
Colec11 |
collectin sub-family member 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21258343 |
|
NCBI chr 6:47,857,767...47,889,961
Ensembl chr 6:47,857,771...47,890,033
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G |
Masp1 |
MBL associated serine protease 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21258343 |
|
NCBI chr11:80,736,424...80,806,278
Ensembl chr11:80,736,576...80,803,382
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G |
Duox1 |
dual oxidase 1 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:114,251,794...114,286,827
Ensembl chr 3:114,253,637...114,286,802
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G |
Duox2 |
dual oxidase 2 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:114,218,187...114,237,808
Ensembl chr 3:114,218,193...114,235,933
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G |
Duoxa1 |
dual oxidase maturation factor 1 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:114,241,057...114,251,720
Ensembl chr 3:114,241,057...114,251,647
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G |
Duoxa2 |
dual oxidase maturation factor 2 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:114,236,718...114,240,086
Ensembl chr 3:114,236,718...114,240,086
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G |
Gatm |
glycine amidinotransferase |
|
ISO |
ClinVar Annotator: match by term: AGAT deficiency ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 3 ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar Annotator: match by OMIM:612718 ClinVar Annotator: match by null |
OMIM ClinVar |
PMID:10762163 PMID:11555793 PMID:12468279 PMID:20625172 PMID:20682460 PMID:22386973 PMID:23660394 PMID:23770102 PMID:24415674 PMID:25741868 PMID:26003046 PMID:26467025 PMID:27233232 PMID:27577545 PMID:28492532 |
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NCBI chr 3:114,711,570...114,728,155
Ensembl chr 3:114,711,562...114,728,410
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G |
Shf |
Src homology 2 domain containing F |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:114,288,021...114,307,334
Ensembl chr 3:114,287,718...114,307,250
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G |
Slc28a2 |
solute carrier family 28 member 2 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:114,355,003...114,647,382
Ensembl chr 3:114,355,798...114,647,382
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G |
Sord |
sorbitol dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:114,176,127...114,207,368
Ensembl chr 3:114,176,309...114,207,366
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G |
Terb2 |
telomere repeat binding bouquet formation protein 2 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:114,129,387...114,147,943
Ensembl chr 3:114,129,589...114,147,926
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G |
Adh5 |
alcohol dehydrogenase 5 (class III), chi polypeptide |
|
ISO |
ClinVar Annotator: match by term: AMED SYNDROME, DIGENIC |
OMIM ClinVar |
PMID:33355142 |
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NCBI chr 2:243,728,500...243,740,907
Ensembl chr 2:243,700,784...243,740,899
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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:16046871 PMID:16440063 PMID:17885622 PMID:18056758 PMID:20010786 PMID:33355142 |
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NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
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G |
Ppp3ca |
protein phosphatase 3 catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT |
ClinVar OMIM |
PMID:29432562 |
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NCBI chr 2:241,909,332...242,186,861
Ensembl chr 2:241,909,832...242,184,854
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G |
Asxl3 |
ASXL transcriptional regulator 3 |
|
ISO |
ClinVar Annotator: match by term: Bainbridge-Ropers syndrome ClinVar Annotator: match by OMIM:615485 |
OMIM ClinVar |
PMID:23383720 PMID:25326635 PMID:25741868 PMID:26647312 PMID:26694549 PMID:27075689 PMID:27901041 PMID:28100473 PMID:28492532 PMID:29305346 PMID:29367179 PMID:31180560 PMID:32295525 PMID:32581362 PMID:32860008 |
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NCBI chr18:13,322,148...13,496,230
Ensembl chr18:13,386,133...13,491,735
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G |
Thoc6 |
THO complex 6 |
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ISO |
ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome ClinVar Annotator: match by OMIM:613680 |
OMIM ClinVar |
PMID:18414213 PMID:23621916 PMID:25741868 PMID:26739162 PMID:27102954 PMID:27295358 PMID:30238602 PMID:30476144 |
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NCBI chr10:12,989,135...12,994,495
Ensembl chr10:12,989,135...12,994,495
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G |
Tet3 |
tet methylcytosine dioxygenase 3 |
|
ISO |
ClinVar Annotator: match by term: BECK-FAHRNER SYNDROME |
OMIM ClinVar |
PMID:25741868 PMID:31928709 |
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NCBI chr 4:115,060,702...115,160,800
Ensembl chr 4:115,066,309...115,157,263
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G |
Fam172a |
family with sequence similarity 172, member A |
|
ISO |
ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome |
ClinVar |
PMID:24462372 |
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NCBI chr 2:4,942,795...5,547,744
Ensembl chr 2:4,942,775...5,545,144
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G |
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 ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome ClinVar Annotator: match by OMIM:615722 |
OMIM ClinVar |
PMID:18414213 PMID:24462372 PMID:25326637 PMID:25741868 PMID:25741869 PMID:26138355 PMID:26350515 PMID:26986877 PMID:28963436 |
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NCBI chr 2:5,569,954...5,579,894
Ensembl chr 2:5,569,935...5,579,894
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G |
Pou5f2 |
POU domain class 5, transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome |
ClinVar |
PMID:24462372 |
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NCBI chr 2:5,437,067...5,438,301
Ensembl chr 2:5,437,067...5,438,301
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G |
RGD1560883 |
similar to KIAA0825 protein |
|
ISO |
ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome |
ClinVar |
PMID:24462372 |
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NCBI chr 2:4,195,871...4,755,065
Ensembl chr 2:4,195,917...4,754,318
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G |
Rps23 |
ribosomal protein S23 |
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ISO |
ClinVar Annotator: match by term: MACINNES SYNDROME |
ClinVar OMIM |
PMID:28257692 |
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NCBI chr 2:19,823,234...19,824,804
Ensembl chr 2:19,823,234...19,824,804
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G |
Cacna2d2 |
calcium voltage-gated channel auxiliary subunit alpha2delta 2 |
|
ISO |
ClinVar Annotator: match by term: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY |
OMIM ClinVar |
PMID:24358150 PMID:28492532 PMID:29997391 PMID:30410802 |
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NCBI chr 8:116,154,661...116,285,643
Ensembl chr 8:116,154,736...116,284,985
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G |
Cyb561d2 |
cytochrome b561 family, member D2 |
|
ISO |
ClinVar Annotator: match by term: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY |
ClinVar |
PMID:29997391 PMID:30410802 |
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NCBI chr 8:116,295,328...116,297,879
Ensembl chr 8:116,295,329...116,297,858
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G |
Kcnma1 |
potassium calcium-activated channel subfamily M alpha 1 |
|
ISO |
ClinVar Annotator: match by term: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES |
ClinVar OMIM |
PMID:25741868 PMID:27567911 PMID:29545233 |
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NCBI chr15:344,204...1,048,849
Ensembl chr15:344,360...1,047,956
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G |
Oxr1 |
oxidation resistance 1 |
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ISO |
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OMIM |
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NCBI chr 7:80,351,774...80,788,094
Ensembl chr 7:80,351,774...80,788,094
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G |
Ahdc1 |
AT hook, DNA binding motif, containing 1 |
|
ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:31474318 |
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NCBI chr 5:151,209,894...151,277,192
Ensembl chr 5:151,211,342...151,277,165
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G |
Arid1a |
AT-rich interaction domain 1A |
|
ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 |
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NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
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G |
Atad3a |
ATPase family, AAA domain containing 3A |
|
ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 PMID:31727539 |
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NCBI chr 5:173,189,590...173,209,809
Ensembl chr 5:173,189,592...173,209,768
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G |
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 chr12:27,155,362...28,252,752
Ensembl chr12:28,212,333...28,251,816
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G |
Bcl11a |
BAF chromatin remodeling complex subunit BCL11A |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:31474318 |
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NCBI chr14:108,826,717...108,921,197
Ensembl chr14:108,826,831...108,921,669
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G |
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:11,570,155...11,692,022
Ensembl chr X:11,648,989...11,691,099
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G |
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:9,815,652...10,156,155
Ensembl chr X:9,815,652...10,156,155
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G |
Ddx3x |
DEAD-box helicase 3, X-linked |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:26235985 PMID:31474318 |
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NCBI chr X:10,400,363...10,414,010
Ensembl chr X:10,400,366...10,413,995
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G |
Dkc1 |
dyskerin pseudouridine synthase 1 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:31474318 |
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NCBI chr X:155,844,914...155,862,363
Ensembl chr X:155,844,857...155,862,475
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G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 |
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NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:31474318 |
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NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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G |
Flg |
filaggrin |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 |
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NCBI chr 2:193,565,401...193,574,297
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G |
Foxp1 |
forkhead box P1 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 PMID:31474318 |
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NCBI chr 4:131,362,178...131,963,466
Ensembl chr 4:131,366,744...131,694,755
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G |
Fzd3 |
frizzled class receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:31474318 |
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NCBI chr15:48,601,259...48,670,257
Ensembl chr15:48,601,266...48,670,257
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G |
Kctd3 |
potassium channel tetramerization domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25558065 |
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NCBI chr13:107,433,588...107,471,843
Ensembl chr13:107,433,588...107,471,843
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G |
Kif4a |
kinesin family member 4A |
|
ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:31474318 |
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NCBI chr X:70,461,700...70,561,084
Ensembl chr X:70,461,718...70,561,189
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G |
L1cam |
L1 cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:8929944 PMID:16650080 PMID:31474318 |
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NCBI chr X:156,901,244...156,928,064
Ensembl chr X:156,909,913...156,928,057
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G |
LOC690035 |
similar to Protein KIAA0586 |
|
ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26026149 PMID:26096313 PMID:26386044 PMID:26386247 PMID:26437029 PMID:28125082 PMID:28492532 PMID:29068549 PMID:30120217 PMID:32581362 |
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NCBI chr 6:93,562,775...93,667,857
Ensembl chr 6:93,563,446...93,667,675
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G |
Macf1 |
microtubule-actin crosslinking factor 1 |
|
ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:31474318 |
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NCBI chr 5:141,039,455...141,363,524
Ensembl chr 5:141,039,468...141,363,524
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G |
Ophn1 |
oligophrenin 1 |
|
ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 PMID:31474318 |
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NCBI chr X:68,185,865...68,579,518
Ensembl chr X:68,189,161...68,563,137
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G |
Oxr1 |
oxidation resistance 1 |
|
ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:31785787 |
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NCBI chr 7:80,351,774...80,788,094
Ensembl chr 7:80,351,774...80,788,094
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G |
Pla2g6 |
phospholipase A2 group VI |
|
ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:16783378 PMID:32581362 |
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NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
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G |
Pmm2 |
phosphomannomutase 2 |
|
ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 PMID:10571956 PMID:10854097 PMID:10922383 PMID:11058895 PMID:11134235 PMID:11156536 PMID:11517108 PMID:11589167 PMID:11916319 PMID:15844218 PMID:16376131 PMID:16540464 PMID:16825284 PMID:17166182 PMID:18948042 PMID:19357119 PMID:20301289 PMID:21541725 PMID:24033266 PMID:25355454 PMID:25741868 PMID:26014514 PMID:26488408 PMID:28373276 PMID:28492532 PMID:28940310 PMID:30740725 PMID:31474318 PMID:32581362 PMID:32860008 |
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NCBI chr10:7,056,258...7,077,443
Ensembl chr10:7,056,266...7,077,443
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G |
Rars2 |
arginyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:31474318 |
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NCBI chr 5:50,075,510...50,127,625
Ensembl chr 5:50,075,527...50,127,424
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G |
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 9:10,934,273...10,951,252
Ensembl chr 9:10,941,613...10,951,252
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G |
Sepsecs |
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase |
|
ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 |
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NCBI chr14:60,657,730...60,687,950
Ensembl chr14:60,657,686...60,687,958
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G |
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 |
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NCBI chr 8:118,802,478...118,888,224
Ensembl chr 8:118,803,075...118,888,224
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G |
Sptan1 |
spectrin, alpha, non-erythrocytic 1 |
|
ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 PMID:31474318 PMID:32963807 |
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NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260
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G |
Stxbp1 |
syntaxin binding protein 1 |
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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 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
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G |
Tmlhe |
trimethyllysine hydroxylase, epsilon |
|
ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:31474318 |
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NCBI chr20:237,461...285,125
Ensembl chr20:237,506...284,943
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G |
Tsen54 |
tRNA splicing endonuclease subunit 54 |
|
ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 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:29410950 |
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NCBI chr10:104,358,401...104,366,926
Ensembl chr10:104,359,342...104,366,926
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G |
Tuba1a |
tubulin, alpha 1A |
|
ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:31474318 |
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NCBI chr 7:140,637,287...140,640,953
Ensembl chr 7:140,637,287...140,640,953
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G |
Tubb2a |
tubulin, beta 2A class IIa |
|
ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:24702957 PMID:25741868 PMID:31474318 |
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NCBI chr17:31,493,145...31,496,827
Ensembl chr17:31,493,107...31,498,651
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G |
Vldlr |
very low density lipoprotein receptor |
|
ISO |
ClinVar Annotator: match by term: Cerebellar hypoplasia ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr 1:245,236,819...245,273,688
Ensembl chr 1:245,237,736...245,269,205
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G |
Wdr37 |
WD repeat domain 37 |
|
ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:31327508 PMID:31327510 PMID:31474318 |
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NCBI chr17:57,983,937...58,051,011
Ensembl chr17:57,983,937...58,050,992
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G |
Brf1 |
BRF1, RNA polymerase III transcription initiation factor subunit |
|
ISO |
ClinVar Annotator: match by term: cerebellar-facial-dental syndrome ClinVar Annotator: match by term: Cerebellofaciodental syndrome |
ClinVar OMIM |
PMID:25561519 PMID:25741868 |
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NCBI chr 6:137,762,230...137,808,573
Ensembl chr 6:137,765,122...137,808,303
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G |
Pam16 |
presequence translocase associated motor 16 |
|
ISO |
ClinVar Annotator: match by term: Chondrodysplasia, megarbane-dagher-melki type ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type |
ClinVar OMIM |
PMID:24786642 PMID:27354339 |
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NCBI chr10:11,146,359...11,153,936
Ensembl chr10:11,146,359...11,153,936
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G |
Acod1 |
aconitate decarboxylase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:93,612,968...93,622,322
Ensembl chr15:93,612,971...93,622,358
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G |
Alg11 |
ALG11, alpha-1,2-mannosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr16:74,854,007...74,866,096
Ensembl chr16:74,857,562...74,864,816
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G |
Arl11 |
ADP-ribosylation factor like GTPase 11 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:41,639,985...41,645,685
Ensembl chr15:41,643,541...41,645,685
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G |
Atp7b |
ATPase copper transporting beta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
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G |
Bora |
bora, aurora kinase A activator |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:83,442,217...83,463,737
Ensembl chr15:83,442,144...83,463,717
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G |
Cab39l |
calcium binding protein 39-like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:39,745,124...39,849,022
Ensembl chr15:39,759,257...39,870,208
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G |
Ccdc70 |
coiled-coil domain containing 70 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr16:74,958,897...74,963,925
Ensembl chr16:74,958,897...74,963,044
|
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G |
Cdadc1 |
cytidine and dCMP deaminase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:39,865,094...39,894,122
Ensembl chr15:39,882,210...39,893,979
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G |
Ckap2 |
cytoskeleton associated protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr16:74,752,655...74,779,184
Ensembl chr16:74,752,655...74,779,184
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G |
Cln5 |
CLN5, intracellular trafficking protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:93,634,815...93,644,146
|
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G |
Cnmd |
chondromodulin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:61,923,291...61,947,840
Ensembl chr15:61,923,299...61,947,764
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G |
Commd6 |
COMM domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:86,136,096...86,142,672
Ensembl chr15:86,136,096...86,142,672
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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 chr15:54,903,290...54,941,742
Ensembl chr15:54,905,274...54,906,203
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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 chr15:82,095,003...82,482,272
Ensembl chr15:82,099,159...82,482,009
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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 chr15:69,928,507...70,400,077
Ensembl chr15:70,039,424...70,399,924
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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 chr15:83,466,330...83,494,107
Ensembl chr15:83,466,428...83,494,423
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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 chr15:45,360,505...45,378,840
Ensembl chr15:45,360,503...45,376,476
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G |
Ebpl |
EBP like |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:41,668,119...41,691,518
Ensembl chr15:41,668,119...41,691,518
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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 chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
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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 chr15:45,711,994...45,780,395
Ensembl chr15:45,712,821...45,780,405
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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 chr15:93,647,307...93,667,395
Ensembl chr15:93,647,310...93,667,395
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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 chr15:54,378,865...54,582,954
Ensembl chr15:54,381,044...54,528,480
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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 chr15:45,844,050...45,929,996
Ensembl chr15:45,858,608...45,947,030
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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 chr15:55,254,703...55,277,713
Ensembl chr15:55,254,706...55,277,713
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G |
Kcnrg |
potassium channel regulator |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:41,937,880...41,942,205
Ensembl chr15:41,937,880...41,942,205
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G |
Kctd12 |
potassium channel tetramerization domain containing 12 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:87,384,632...87,390,627
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G |
Klf12 |
Kruppel-like factor 12 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:84,316,986...84,748,549
Ensembl chr15:84,324,470...84,748,525
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G |
Klf5 |
Kruppel-like factor 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:83,703,796...83,722,921
Ensembl chr15:83,703,791...83,722,921
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G |
Klhl1 |
kelch-like family member 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:80,270,846...80,714,176
Ensembl chr15:80,271,731...80,713,153
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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 chr15:41,696,356...41,770,112
Ensembl chr15:41,698,281...41,770,112
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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 chr15:86,242,911...86,458,512
Ensembl chr15:86,243,148...86,457,739
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G |
LOC102554746 |
uncharacterized LOC102554746 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:45,559,028...45,581,410
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G |
Lpar6 |
lysophosphatidic acid receptor 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:55,126,953...55,128,762
Ensembl chr15:55,126,953...55,128,761
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G |
Med4 |
mediator complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:55,406,543...55,416,816
Ensembl chr15:55,406,543...55,416,815
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G |
Mycbp2 |
MYC binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:87,405,472...87,450,812 NCBI chr15:93,678,062...93,901,556
Ensembl chr15:87,506,959...93,868,301
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G |
Mzt1 |
mitotic spindle organizing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:83,429,437...83,442,118
Ensembl chr15:83,431,178...83,442,008
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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 chr15:89,407,426...89,458,983
Ensembl chr15:89,407,426...89,458,983
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G |
Nek3 |
NIMA-related kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:74,781,371...74,806,567
Ensembl chr16:74,785,281...74,806,149
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G |
Nek5 |
NIMA-related kinase 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:74,809,513...74,851,895
Ensembl chr16:74,810,938...74,848,113
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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 chr15:55,417,774...55,456,698
Ensembl chr15:55,419,502...55,456,698
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G |
Obi1 |
ORC ubiquitin ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:88,632,089...88,670,325
Ensembl chr15:88,631,794...88,670,349
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G |
Olfm4 |
olfactomedin 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:62,384,263...62,429,450
Ensembl chr15:62,406,873...62,429,449
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G |
Pcdh17 |
protocadherin 17 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:67,555,835...67,647,990
Ensembl chr15:67,555,835...67,645,088
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G |
Pcdh20 |
protocadherin 20 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:71,772,777...71,779,033
Ensembl chr15:71,772,777...71,779,033
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G |
Pcdh8 |
protocadherin 8 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:62,196,469...62,201,498
Ensembl chr15:62,197,060...62,200,837
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G |
Pcdh9 |
protocadherin 9 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:76,787,108...77,738,668
Ensembl chr15:77,733,402...77,736,892
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G |
Phf11 |
PHD finger protein 11 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:38,692,817...39,683,417
Ensembl chr15:38,647,779...38,709,984
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G |
Pibf1 |
progesterone immunomodulatory binding factor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:83,494,110...83,663,202
Ensembl chr15:83,495,377...83,663,143
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G |
Pou4f1 |
POU class 4 homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:88,618,255...88,622,712
Ensembl chr15:88,620,470...88,622,413
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G |
Prr20e |
proline rich 20E |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr 4:121,040,810...121,053,910
Ensembl chr 4:121,046,277...121,052,552
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G |
Rb1 |
RB transcriptional corepressor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
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G |
Rbm26 |
RNA binding motif protein 26 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:89,262,683...89,339,323
Ensembl chr15:89,266,710...89,339,323
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G |
Rcbtb1 |
RCC1 and BTB domain containing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:39,622,572...39,665,335
Ensembl chr15:39,638,510...39,669,473
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G |
Rcbtb2 |
RCC1 and BTB domain containing protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:55,029,388...55,074,728
Ensembl chr15:55,034,033...55,073,437
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G |
Rnaseh2b |
ribonuclease H2, subunit B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:45,422,010...45,472,792
Ensembl chr15:45,422,010...45,464,892
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G |
Scel |
sciellin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:87,689,190...87,820,731
Ensembl chr15:87,704,340...87,820,779
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G |
Serpine3 |
serpin family E member 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:45,827,983...45,855,952
Ensembl chr15:45,834,302...45,858,335
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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 chr15:38,699,135...39,745,035
Ensembl chr15:39,712,861...39,742,103 Ensembl chr15:39,712,861...39,742,103
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G |
Slain1 |
SLAIN motif family, member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:87,862,832...87,906,472
Ensembl chr15:87,886,783...87,906,474
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G |
Slitrk1 |
SLIT and NTRK-like family, member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:93,303,382...93,307,420
Ensembl chr15:93,303,382...93,307,420
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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 chr15:95,507,632...95,514,259
Ensembl chr15:95,507,640...95,514,259
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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 chr15:90,172,769...90,177,823
Ensembl chr15:90,172,975...90,175,802
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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 chr15:41,871,144...41,890,879
Ensembl chr15:41,870,762...41,890,716
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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 chr15:55,461,695...55,516,954
Ensembl chr15:55,461,695...55,516,952
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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 chr15:61,873,158...61,913,983
Ensembl chr15:61,873,056...61,914,072
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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 chr15:85,927,978...86,105,829
Ensembl chr15:85,930,044...86,105,273
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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 chr15:70,732,164...70,864,855
Ensembl chr15:70,790,125...70,859,185
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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 chr16:74,680,621...74,712,368
Ensembl chr16:74,680,621...74,710,704
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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 chr15:41,897,191...41,936,545
Ensembl chr15:41,927,241...41,935,718
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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 chr15:86,153,624...86,198,127
Ensembl chr15:86,153,628...86,198,127
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G |
Vps36 |
vacuolar protein sorting 36 homolog |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:74,719,642...74,743,921
Ensembl chr16:74,719,553...74,743,927
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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 chr15:46,008,613...46,134,319
Ensembl chr15:46,008,613...46,134,064
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G |
Abr |
ABR activator of RhoGEF and GTPase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17p13.3, centromeric, duplication syndrome |
ClinVar |
PMID:21681106 |
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NCBI chr10:64,565,121...64,657,079
Ensembl chr10:64,567,268...64,657,089
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G |
Bhlha9 |
basic helix-loop-helix family, member a9 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17p13.3, centromeric, duplication syndrome |
ClinVar |
PMID:21681106 |
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NCBI chr10:63,498,267...63,500,353
Ensembl chr10:63,498,698...63,499,390
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G |
Crk |
CRK proto-oncogene, adaptor protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17p13.3, centromeric, duplication syndrome |
ClinVar |
PMID:21681106 |
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NCBI chr10:63,829,731...63,855,999
Ensembl chr10:63,829,807...63,852,780
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G |
Trarg1 |
trafficking regulator of GLUT4 (SLC2A4) 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17p13.3, centromeric, duplication syndrome |
ClinVar |
PMID:21681106 |
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NCBI chr10:63,471,330...63,491,713
Ensembl chr10:63,471,331...63,491,713
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G |
Ywhae |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17p13.3, centromeric, duplication syndrome |
ClinVar |
PMID:21681106 |
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NCBI chr10:63,884,338...63,921,709
Ensembl chr10:63,884,338...63,921,709
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G |
Lrrc32 |
leucine rich repeat containing 32 |
|
ISO |
ClinVar Annotator: match by term: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY |
ClinVar OMIM |
PMID:30976112 |
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NCBI chr 1:163,443,972...163,457,426
Ensembl chr 1:163,445,527...163,457,424
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G |
Mir875 |
microRNA 875 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:15141358 PMID:16648375 PMID:28492532 |
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NCBI chr 7:74,423,233...74,423,305
Ensembl chr 7:74,423,233...74,423,305
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G |
Vps13b |
vacuolar protein sorting 13 homolog B |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome ClinVar Annotator: match by term: Pepper syndrome ClinVar Annotator: match by OMIM:216550 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 PMID:15173253 PMID:15211651 PMID:15498460 PMID:15691367 PMID:16648375 PMID:16917849 PMID:17383910 PMID:17786118 PMID:17990063 PMID:18414213 PMID:18655112 PMID:19006247 PMID:19190672 PMID:19533689 PMID:20461111 PMID:20656880 PMID:20683995 PMID:20921020 PMID:21330571 PMID:21659346 PMID:21865173 PMID:22382802 PMID:22527104 PMID:22855652 PMID:23033978 PMID:23188044 PMID:23352163 PMID:23757202 PMID:24033266 PMID:24311531 PMID:24334764 PMID:25326635 PMID:25356970 PMID:25472526 PMID:25502226 PMID:25525159 PMID:25533962 PMID:25741868 PMID:26133662 PMID:26395554 PMID:26443248 PMID:26467025 PMID:26938784 PMID:27175599 PMID:27353947 PMID:27380831 PMID:27533158 PMID:27829003 PMID:28041643 PMID:28341476 PMID:28492532 PMID:28631888 PMID:28832562 PMID:29431110 PMID:29453417 PMID:29706646 PMID:29758347 PMID:30138938 PMID:30602132 PMID:32860008 |
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NCBI chr 7:74,118,834...74,722,341
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G |
Nalcn |
sodium leak channel, non-selective |
|
ISO |
ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay |
ClinVar OMIM |
PMID:25683120 PMID:25741868 PMID:25864427 PMID:26763878 PMID:26938784 PMID:27681385 PMID:28454995 PMID:30167850 |
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NCBI chr15:109,734,092...110,046,729
Ensembl chr15:109,735,595...110,046,704
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G |
Cdk13 |
cyclin-dependent kinase 13 |
|
ISO |
ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER ClinVar Annotator: match by term: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder |
ClinVar OMIM |
PMID:15632290 PMID:22512864 PMID:25741868 PMID:25741869 PMID:27479907 PMID:28135719 PMID:28492532 PMID:28807008 PMID:29021403 PMID:29222009 PMID:29393965 PMID:30702837 |
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NCBI chr17:49,833,194...49,922,932
Ensembl chr17:49,833,400...49,921,550
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G |
Atn1 |
atrophin 1 |
|
ISO |
ClinVar Annotator: match by term: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES |
OMIM ClinVar |
PMID:17067864 PMID:25741868 PMID:30827498 |
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NCBI chr 4:157,267,394...157,281,199
Ensembl chr 4:157,267,901...157,274,755 Ensembl chr 9:157,267,901...157,274,755
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Wac |
WW domain containing adaptor with coiled-coil |
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ISO |
ClinVar Annotator: match by term: DESANTO-SHINAWI SYNDROME ClinVar Annotator: match by term: Desanto-shinawi syndrome |
ClinVar OMIM |
PMID:25741868 PMID:26264232 PMID:26757981 PMID:29190062 |
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NCBI chr17:60,887,606...60,946,630
Ensembl chr17:60,888,017...60,946,426
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Trrap |
transformation/transcription domain-associated protein |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM |
OMIM ClinVar |
PMID:25741868 PMID:30424743 PMID:30827496 |
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NCBI chr12:11,537,950...11,627,563
Ensembl chr12:11,537,950...11,627,563
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G |
Morc2 |
MORC family CW-type zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY |
ClinVar OMIM |
PMID:25741868 PMID:28492532 PMID:28771897 PMID:32693025 |
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NCBI chr14:83,889,138...83,930,263
Ensembl chr14:83,889,089...83,930,522
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G |
Irak1bp1 |
interleukin-1 receptor-associated kinase 1 binding protein 1 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES ClinVar Annotator: match by term: Developmental delay, intellectual disability, obesity, and dysmorphic features |
ClinVar |
PMID:23033978 PMID:25741868 PMID:29209020 |
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NCBI chr 8:90,343,307...90,360,085
Ensembl chr 8:90,343,154...90,360,086
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Phip |
pleckstrin homology domain interacting protein |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES ClinVar Annotator: match by term: Developmental delay, intellectual disability, obesity, and dysmorphic features |
ClinVar OMIM |
PMID:23033978 PMID:25741868 PMID:27479843 PMID:27900362 PMID:28263302 PMID:29209020 |
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NCBI chr 8:90,387,339...90,483,964
Ensembl chr 8:90,392,143...90,483,077
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G |
Gsx2 |
GS homeobox 2 |
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ISO |
ClinVar Annotator: match by term: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2 |
ClinVar OMIM |
PMID:31412107 |
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NCBI chr14:35,650,985...35,652,709
Ensembl chr14:35,650,985...35,652,709
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G |
Deaf1 |
DEAF1 transcription factor |
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ISO |
ClinVar Annotator: match by term: Dyskinesia, seizures, and intellectual developmental disorder |
OMIM ClinVar |
PMID:11690625 PMID:24668509 PMID:25741868 PMID:26048982 PMID:26795593 PMID:26834045 PMID:28940898 PMID:30923367 PMID:31688097 PMID:31929336 |
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NCBI chr 1:214,283,787...214,317,466
Ensembl chr 1:214,283,790...214,317,466
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G |
Setd1a |
SET domain containing 1A, histone lysine methyltransferase |
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ISO |
ClinVar Annotator: match by term: EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY |
ClinVar OMIM |
PMID:25741868 PMID:26974950 PMID:29463886 PMID:31197650 PMID:31595951 |
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NCBI chr 1:199,222,584...199,247,993
Ensembl chr 1:199,225,100...199,247,988
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G |
Lrrc2 |
leucine rich repeat containing 2 |
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ISO |
ClinVar Annotator: match by term: Forebrain defects |
ClinVar |
PMID:11062482 PMID:12073012 |
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NCBI chr 8:119,226,651...119,259,649
Ensembl chr 8:119,228,612...119,259,645
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G |
Tdgf1 |
teratocarcinoma-derived growth factor 1 |
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ISO |
ClinVar Annotator: match by null |
ClinVar |
PMID:11062482 PMID:12073012 |
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NCBI chr 8:119,215,266...119,220,909
Ensembl chr 8:119,215,495...119,219,232
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G |
Sh3pxd2b |
SH3 and PX domains 2B |
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ISO |
ClinVar Annotator: match by term: Frank-Ter Haar syndrome ClinVar Annotator: match by term: Frank Ter Haar syndrome ClinVar Annotator: match by OMIM:249420 |
OMIM ClinVar |
PMID:7158646 PMID:8484415 PMID:15523657 PMID:20137777 PMID:22509100 PMID:24105366 PMID:25741868 PMID:28492532 PMID:29276006 |
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NCBI chr10:17,209,152...17,296,449
Ensembl chr10:17,209,212...17,291,876
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G |
Cux1 |
cut-like homeobox 1 |
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ISO |
ClinVar Annotator: match by term: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT |
OMIM ClinVar |
PMID:25741868 PMID:30014507 |
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NCBI chr12:23,150,886...23,470,095
Ensembl chr12:23,151,180...23,445,074
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G |
Zfp148 |
zinc finger protein 148 |
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ISO |
ClinVar Annotator: match by term: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES ClinVar Annotator: match by term: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies |
ClinVar OMIM |
PMID:12840224 PMID:25741868 PMID:27964749 |
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NCBI chr11:70,509,909...70,618,422
Ensembl chr11:70,514,750...70,618,347
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G |
Dicer1 |
dicer 1 ribonuclease III |
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ISO |
ClinVar Annotator: match by term: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR ClinVar Annotator: match by term: GLOW SYNDROME |
ClinVar OMIM |
PMID:24676357 PMID:28492532 |
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NCBI chr 6:128,388,084...128,453,234
Ensembl chr 6:128,388,053...128,434,183
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G |
Gls |
glutaminase |
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ISO |
ClinVar Annotator: match by term: GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE |
OMIM ClinVar |
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NCBI chr 9:54,212,622...54,284,879
Ensembl chr 9:54,212,767...54,284,872
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G |
Fto |
FTO, alpha-ketoglutarate dependent dioxygenase |
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ISO |
ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death ClinVar Annotator: match by OMIM:612938 |
OMIM ClinVar |
PMID:19559399 PMID:19833892 PMID:20299471 PMID:23505181 PMID:23825611 PMID:24289790 PMID:25741868 PMID:26378117 PMID:26820768 PMID:27105045 PMID:28492532 |
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NCBI chr19:16,774,549...17,115,098
Ensembl chr19:16,772,744...17,115,113
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G |
Rpgrip1l |
Rpgrip1-like |
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ISO |
ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death |
ClinVar |
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NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
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G |
Dnmt3a |
DNA methyltransferase 3 alpha |
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ISO |
ClinVar Annotator: match by term: HEYN-SPROUL-JACKSON SYNDROME |
ClinVar OMIM |
PMID:30478443 |
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NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
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G |
Adk |
adenosine kinase |
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ISO |
ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:614300 |
OMIM ClinVar CTD |
PMID:21963049 PMID:25741868 PMID:26975589 PMID:28492532 |
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NCBI chr15:3,033,535...3,435,888
Ensembl chr15:3,033,495...3,435,888
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G |
Clcn7 |
chloride voltage-gated channel 7 |
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ISO |
ClinVar Annotator: match by term: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT |
OMIM ClinVar |
PMID:25741868 PMID:31155284 |
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NCBI chr10:14,492,844...14,518,167
Ensembl chr10:14,492,844...14,516,894
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G |
Ebf3 |
EBF transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME ClinVar Annotator: match by term: Hypotonia, ataxia, and delayed development syndrome ClinVar Annotator: match by term: EBF3-related disorder |
ClinVar OMIM |
PMID:25741868 PMID:28017370 PMID:28017372 PMID:28017373 PMID:28492532 PMID:32581362 |
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NCBI chr 1:209,523,153...209,641,143
Ensembl chr 1:209,523,157...209,641,123
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G |
Ctbp1 |
C-terminal binding protein 1 |
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ISO |
ClinVar Annotator: match by term: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME |
OMIM ClinVar |
PMID:25741868 PMID:27094857 |
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NCBI chr14:82,762,109...82,789,350
Ensembl chr14:82,762,190...82,789,319
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G |
Nfe2l2 |
nuclear factor, erythroid 2-like 2 |
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ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA |
ClinVar OMIM |
PMID:26619011 PMID:29018201 |
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NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
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G |
Kat6a |
lysine acetyltransferase 6A |
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ISO |
ClinVar Annotator: match by term: KAT6A syndrome |
ClinVar |
PMID:17374998 PMID:25728775 PMID:25741868 PMID:27133397 |
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NCBI chr16:73,942,669...74,020,750
Ensembl chr16:73,943,455...74,023,005
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G |
Kcnj6 |
potassium inwardly-rectifying channel, subfamily J, member 6 |
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ISO |
ClinVar Annotator: match by term: Keppen-Lubinsky syndrome |
OMIM ClinVar |
PMID:19610118 PMID:25620207 PMID:25741868 |
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NCBI chr11:35,011,007...35,262,362
Ensembl chr11:35,024,196...35,099,383
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G |
Sox5 |
SRY-box transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: Lamb-shaffer syndrome |
ClinVar OMIM |
PMID:22290657 PMID:23220431 PMID:23498568 PMID:25741868 PMID:26111154 PMID:28708303 |
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NCBI chr 4:178,062,267...179,031,991
Ensembl chr 4:178,066,165...178,441,547
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G |
Eif2ak2 |
eukaryotic translation initiation factor 2-alpha kinase 2 |
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ISO |
ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME |
ClinVar OMIM |
PMID:25741868 PMID:32197074 |
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NCBI chr 6:1,428,845...1,466,193
Ensembl chr 6:1,428,834...1,466,201
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G |
Cdk5 |
cyclin-dependent kinase 5 |
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ISO |
ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia |
OMIM ClinVar |
PMID:25560765 |
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NCBI chr 4:7,282,945...7,287,427
Ensembl chr 4:7,282,948...7,288,383
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G |
Dph1 |
diphthamide biosynthesis 1 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic features, and sparse hair |
ClinVar OMIM |
PMID:25558065 PMID:25741868 PMID:26220823 |
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NCBI chr10:62,019,379...62,032,384
Ensembl chr10:62,019,379...62,032,407
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G |
Setd2 |
SET domain containing 2, histone lysine methyltransferase |
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ISO |
ClinVar Annotator: match by term: LUSCAN-LUMISH SYNDROME ClinVar Annotator: match by term: Luscan-lumish syndrome |
ClinVar OMIM |
PMID:20864444 PMID:22495309 PMID:23160955 PMID:24267886 PMID:24728327 PMID:24852293 PMID:24901346 PMID:25574603 PMID:25741868 PMID:26084711 PMID:26467025 PMID:26580448 PMID:27317772 PMID:27455002 PMID:28424246 PMID:28492532 PMID:28577310 PMID:29276005 PMID:29681085 PMID:30419952 PMID:31474318 |
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NCBI chr 8:118,802,478...118,888,224
Ensembl chr 8:118,803,075...118,888,224
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G |
Kcna4 |
potassium voltage-gated channel subfamily A member 4 |
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ISO |
ClinVar Annotator: match by term: MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM |
ClinVar OMIM |
PMID:23181898 PMID:27582084 |
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NCBI chr 3:98,293,295...98,300,763
Ensembl chr 3:98,297,554...98,300,680
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G |
Cars |
cysteinyl-tRNA synthetase |
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ISO |
ClinVar Annotator: match by term: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME |
ClinVar OMIM |
PMID:30824121 |
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NCBI chr 1:216,759,367...216,801,652
Ensembl chr 1:216,759,366...216,801,656
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G |
Pnkp |
polynucleotide kinase 3'-phosphatase |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 10 ClinVar Annotator: match by term: Microcephaly, seizures and developmental delay ClinVar Annotator: match by OMIM:613402 |
OMIM ClinVar |
PMID:16199547 PMID:18414213 PMID:20118933 PMID:22508754 PMID:23224214 PMID:23708187 PMID:24033266 PMID:25558065 PMID:25728773 PMID:25741868 PMID:26467025 PMID:26993267 PMID:27066567 PMID:27066586 PMID:27232581 PMID:28492532 PMID:29261713 PMID:29655203 PMID:29720203 PMID:30039206 PMID:31167812 |
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NCBI chr 1:100,853,475...100,859,202
Ensembl chr 1:100,853,902...100,859,084
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G |
Gfer |
growth factor, augmenter of liver regeneration |
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ISO |
ClinVar Annotator: match by term: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay |
OMIM ClinVar |
PMID:8627443 PMID:18414213 PMID:19409522 PMID:20593814 PMID:25269795 PMID:25326635 PMID:25741868 PMID:26018198 PMID:26757139 PMID:28155230 PMID:28812649 |
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NCBI chr10:14,059,347...14,061,703
Ensembl chr10:14,059,347...14,061,703
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G |
Ryr1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Myopathy, progressive axial with cataracts |
ClinVar |
PMID:18813041 PMID:20301325 PMID:21878807 PMID:21918424 PMID:22473935 PMID:23329375 PMID:23394784 PMID:24055113 PMID:24195946 PMID:24433488 PMID:25637381 PMID:25735680 PMID:25741868 PMID:26332594 PMID:26467025 PMID:27058611 PMID:27147545 PMID:27153395 PMID:28492532 |
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NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
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G |
Ints8 |
integrator complex subunit 8 |
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ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY |
ClinVar OMIM |
PMID:28763441 |
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NCBI chr 5:24,446,002...24,493,819
Ensembl chr 5:24,445,886...24,493,670
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G |
Med12l |
mediator complex subunit 12L |
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ISO |
ClinVar Annotator: match by term: NIZON-ISIDOR SYNDROME |
ClinVar OMIM |
PMID:31155615 |
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NCBI chr 2:149,213,134...149,316,569
Ensembl chr 2:149,213,134...149,532,292
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G |
P2ry12 |
purinergic receptor P2Y12 |
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ISO |
ClinVar Annotator: match by term: NIZON-ISIDOR SYNDROME |
ClinVar |
PMID:31155615 |
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NCBI chr 2:149,440,807...149,482,592
Ensembl chr 2:149,441,598...149,444,548
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G |
Ntrk2 |
neurotrophic receptor tyrosine kinase 2 |
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ISO |
ClinVar Annotator: match by term: Obesity, hyperphagia, and developmental delay |
OMIM ClinVar |
PMID:15494731 PMID:25741868 PMID:27884935 PMID:29100083 |
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NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
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G |
Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
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ISO |
ClinVar Annotator: match by term: N-terminal acetyltransferase deficiency ClinVar Annotator: match by OMIM:300855 |
OMIM ClinVar |
PMID:18414213 PMID:21700266 PMID:23020937 PMID:25099252 PMID:25326635 PMID:25489052 PMID:25741868 PMID:26522270 PMID:27094817 PMID:28327206 PMID:28492532 PMID:28708303 PMID:29558889 PMID:31174490 |
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NCBI chr X:156,863,655...156,868,950
Ensembl chr X:156,863,754...156,868,950
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G |
Pnpla6 |
patatin-like phospholipase domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Oliver-McFarlane syndrome ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome |
ClinVar OMIM |
PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:24355708 PMID:25480986 PMID:25574898 PMID:25741868 PMID:28492532 |
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NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
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G |
Fdxr |
ferredoxin reductase |
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ISO |
ClinVar Annotator: match by term: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr10:103,817,724...103,826,413
Ensembl chr10:103,817,704...103,826,448
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G |
Lrrk1 |
leucine-rich repeat kinase 1 |
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ISO |
ClinVar Annotator: match by term: Osteosclerotic metaphyseal dysplasia |
ClinVar |
PMID:25741868 |
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NCBI chr 1:127,166,866...127,301,053
Ensembl chr 1:127,166,431...127,292,090
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G |
Tubgcp2 |
tubulin, gamma complex associated protein 2 |
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ISO |
ClinVar Annotator: match by term: PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES |
ClinVar OMIM |
PMID:31630790 |
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NCBI chr 1:212,333,740...212,359,352
Ensembl chr 1:212,333,741...212,354,273
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G |
Nedd4l |
NEDD4 like E3 ubiquitin protein ligase |
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ISO |
ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 7 ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 |
ClinVar OMIM |
PMID:25741868 PMID:27694961 PMID:32238909 |
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NCBI chr18:60,392,376...60,719,720
Ensembl chr18:60,392,376...60,719,720
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G |
Tbl1xr1 |
TBL1X receptor 1 |
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ISO |
ClinVar Annotator: match by term: Pierpont syndrome ClinVar Annotator: match by term: TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome ClinVar Annotator: match by term: Plantar lipomatosis, unusual facies, and developmental delay |
ClinVar OMIM |
PMID:9450851 PMID:18414213 PMID:23160955 PMID:25102098 PMID:25741868 PMID:26467025 PMID:26740553 PMID:26769062 PMID:27824329 PMID:28492532 PMID:28562391 PMID:28574232 PMID:28588275 PMID:30365874 PMID:30577886 PMID:31394400 |
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NCBI chr 2:107,221,913...107,359,229
Ensembl chr 2:107,233,054...107,359,229
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G |
Pi4ka |
phosphatidylinositol 4-kinase alpha |
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ISO |
ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis |
ClinVar OMIM |
PMID:25741868 PMID:25855803 PMID:26752647 |
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NCBI chr11:87,858,323...87,975,549
Ensembl chr11:87,858,453...87,973,422
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G |
Qars1 |
glutaminyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
OMIM ClinVar |
PMID:24656866 PMID:25432320 PMID:25471517 PMID:25741868 PMID:26467025 PMID:26869582 PMID:28492532 |
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NCBI chr 8:117,297,670...117,305,708
Ensembl chr 8:117,297,670...117,305,702
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G |
Ocln |
occludin |
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ISO |
ClinVar Annotator: match by term: Band-like calcification with simplified gyration and polymicrogyria ClinVar Annotator: match by OMIM:251290 ClinVar Annotator: match by null |
OMIM ClinVar |
PMID:18414213 PMID:19012351 PMID:20727516 PMID:25741868 |
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NCBI chr 2:30,527,327...30,577,218
Ensembl chr 2:30,527,715...30,577,218
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G |
Usp18 |
ubiquitin specific peptidase 18 |
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ISO |
ClinVar Annotator: match by term: PSEUDO-TORCH SYNDROME 2 ClinVar Annotator: match by term: Pseudo-TORCH syndrome 2 |
ClinVar OMIM |
PMID:12833411 PMID:27325888 PMID:31940699 |
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NCBI chr 4:153,812,312...153,834,374
Ensembl chr 4:153,805,993...153,834,430
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G |
Stat2 |
signal transducer and activator of transcription 2 |
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ISO |
ClinVar Annotator: match by term: PSEUDO-TORCH SYNDROME 3 |
ClinVar OMIM |
PMID:31836668 PMID:32092142 |
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NCBI chr 7:2,691,064...2,707,530
Ensembl chr 7:2,691,369...2,707,741
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G |
Farsb |
phenylalanyl-tRNA synthetase subunit beta |
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ISO |
ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications |
ClinVar |
PMID:19161147 PMID:25741868 PMID:29573043 PMID:29979980 PMID:30014610 |
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NCBI chr 9:84,324,456...84,383,674
Ensembl chr 9:84,324,442...84,383,687
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Farsb |
phenylalanyl-tRNA synthetase subunit beta |
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ISO |
ClinVar Annotator: match by term: Rajab syndrome |
ClinVar OMIM |
PMID:29979980 |
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NCBI chr 9:84,324,456...84,383,674
Ensembl chr 9:84,324,442...84,383,687
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Farsa |
phenylalanyl-tRNA synthetase subunit alpha |
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ISO |
ClinVar Annotator: match by term: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 |
OMIM ClinVar |
PMID:31355908 |
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NCBI chr19:25,969,255...25,978,777
Ensembl chr19:25,969,255...25,978,776
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G |
Arcn1 |
archain 1 |
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ISO |
ClinVar Annotator: match by term: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY ClinVar Annotator: match by term: Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay |
ClinVar OMIM |
PMID:25741868 PMID:27476655 |
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NCBI chr 8:49,051,257...49,075,861
Ensembl chr 8:49,051,246...49,075,892
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Tkt |
transketolase |
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ISO |
ClinVar Annotator: match by OMIM:617044 |
ClinVar OMIM |
PMID:27259054 |
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NCBI chr16:6,609,670...6,634,608
Ensembl chr16:6,609,668...6,634,595
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G |
Fitm2 |
fat storage-inducing transmembrane protein 2 |
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ISO |
ClinVar Annotator: match by term: SIDDIQI SYNDROME |
OMIM ClinVar |
PMID:28067622 PMID:30214770 PMID:30288795 |
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NCBI chr 3:159,856,994...159,863,506
Ensembl chr 3:159,856,994...159,863,506
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Trnt1 |
tRNA nucleotidyl transferase 1 |
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ISO |
ClinVar Annotator: match by term: Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay |
ClinVar OMIM |
PMID:24033266 PMID:25193871 PMID:25741868 PMID:26494905 PMID:27370603 PMID:27389523 PMID:27531075 PMID:28492532 PMID:29055896 PMID:29358286 PMID:29454993 |
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NCBI chr 4:138,855,497...138,869,217
Ensembl chr 4:138,855,641...138,869,217
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Pou3f3 |
POU class 3 homeobox 3 |
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ISO |
ClinVar Annotator: match by term: SNIJDERS BLOK-FISHER SYNDROME |
OMIM ClinVar |
PMID:25741868 PMID:31303265 |
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NCBI chr 9:49,479,148...49,482,246
Ensembl chr 9:49,479,023...49,482,252
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Aldh5a1 |
aldehyde dehydrogenase 5 family, member A1 |
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ISO |
ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:271980 |
OMIM ClinVar CTD |
PMID:1301198 PMID:9683595 PMID:10633133 PMID:11243727 PMID:12208142 PMID:12507422 PMID:14523039 PMID:14635103 PMID:16115930 PMID:20018576 PMID:22437753 PMID:23430864 PMID:23825041 PMID:24033266 PMID:25431891 PMID:25641190 PMID:25741868 PMID:26220405 PMID:26964512 PMID:27104484 PMID:27117035 PMID:27896081 PMID:28492532 PMID:28664505 PMID:29031482 PMID:29895405 PMID:31117962 PMID:32238909 PMID:32887777 |
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NCBI chr17:42,133,076...42,159,413
Ensembl chr17:42,133,076...42,159,413
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Gpld1 |
glycosylphosphatidylinositol specific phospholipase D1 |
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ISO |
ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:42,085,027...42,131,344
Ensembl chr17:42,085,028...42,127,678
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Pcgf2 |
polycomb group ring finger 2 |
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ISO |
ClinVar Annotator: match by term: TURNPENNY-FRY SYNDROME |
OMIM ClinVar |
PMID:15525528 PMID:25741868 PMID:25741869 PMID:25741894 PMID:30343942 |
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NCBI chr10:85,631,829...85,642,591
Ensembl chr10:85,632,819...85,636,902
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Qrich1 |
glutamine-rich 1 |
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ISO |
ClinVar Annotator: match by term: VERVERI-BRADY SYNDROME |
ClinVar OMIM |
PMID:25741868 PMID:28692176 PMID:30281152 |
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NCBI chr 8:117,305,803...117,346,738
Ensembl chr 8:117,307,339...117,346,736
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Zfp462 |
zinc finger protein 462 |
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ISO |
ClinVar Annotator: match by term: Metopic ridging-ptosis-facial dysmorphism syndrome ClinVar Annotator: match by term: WEISS-KRUSZKA SYNDROME |
OMIM ClinVar |
PMID:25741868 PMID:28513610 PMID:31361404 |
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NCBI chr 5:71,679,841...71,824,077
Ensembl chr 5:71,742,911...71,823,139
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