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G |
Aar2 |
AAR2 splicing factor |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
|
NCBI chr 3:145,057,368...145,079,838
Ensembl chr 3:145,057,458...145,080,166
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G |
Aco2 |
aconitase 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261
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|
G |
Acsf3 |
acyl-CoA synthetase family member 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553
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|
G |
Actl6a |
actin-like 6A |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28649782 |
|
NCBI chr 2:115,492,374...115,508,401
Ensembl chr 2:115,492,285...115,508,401
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|
G |
Actl6b |
actin-like 6B |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:26539891 |
|
NCBI chr12:19,124,887...19,141,419
Ensembl chr12:19,124,916...19,141,376
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|
G |
Acyp1 |
acylphosphatase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:12955717 PMID:15937921 PMID:25558065 PMID:25741868 PMID:25764212 PMID:28492532 More...
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|
NCBI chr 6:104,919,162...104,932,348
Ensembl chr 6:104,919,162...104,932,387
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|
G |
Adap2 |
ArfGAP with dual PH domains 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22241097 |
|
NCBI chr10:65,138,006...65,166,147
Ensembl chr10:65,138,020...65,165,604
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G |
Adgrg1 |
adhesion G protein-coupled receptor G1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
|
NCBI chr19:10,003,963...10,041,122
Ensembl chr19:10,003,975...10,041,108
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|
G |
Adgrl1 |
adhesion G protein-coupled receptor L1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:35907405 |
|
NCBI chr19:24,202,405...24,244,137
Ensembl chr19:24,204,360...24,244,139
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|
G |
Adnp |
activity-dependent neuroprotector homeobox |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:24531329 PMID:25741868 PMID:27031564 PMID:28135719 PMID:28221363 PMID:28492532 PMID:29475819 PMID:29724491 PMID:29911927 PMID:33004838 More...
|
|
NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312
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|
G |
Agtpbp1 |
ATP/GTP binding carboxypeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
|
NCBI chr17:5,120,540...5,238,874
Ensembl chr17:5,120,609...5,238,869
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G |
Ahdc1 |
AT hook, DNA binding motif, containing 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:23806086 PMID:24088041 PMID:24791903 PMID:25741868 |
|
NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145
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|
G |
Ahi1 |
Abelson helper integration site 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:15322546 PMID:23532844 PMID:25558065 PMID:25741868 PMID:28492532 PMID:30755392 More...
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|
NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041
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|
G |
Akt3 |
AKT serine/threonine kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 PMID:28969385 PMID:29286531 PMID:29758562 PMID:33176815 More...
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|
NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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|
G |
Alg13 |
ALG13, UDP-N-acetylglucosaminyltransferase subunit |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:32681751 |
|
NCBI chr X:107,906,320...107,968,232
Ensembl chr X:107,885,093...107,942,695
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|
G |
Als2 |
alsin Rho guanine nucleotide exchange factor ALS2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:32581362 |
|
NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
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|
G |
Ambra1 |
autophagy and beclin 1 regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
|
NCBI chr 3:77,700,936...77,890,221
Ensembl chr 3:77,700,936...77,890,221
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|
G |
Ampd2 |
adenosine monophosphate deaminase 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 PMID:28492532 PMID:32552793 |
|
NCBI chr 2:195,707,609...195,720,454
Ensembl chr 2:195,707,610...195,720,271
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|
G |
Ank3 |
ankyrin 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr20:18,602,267...19,225,831
Ensembl chr20:18,602,786...19,086,300
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|
G |
Ankrd11 |
ankyrin repeat domain containing 11 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:21782149 PMID:24088041 PMID:25125236 PMID:25413698 PMID:25464108 PMID:25652421 PMID:25741868 PMID:26467025 PMID:26633545 PMID:27605097 PMID:27667800 PMID:28492532 PMID:31607427 PMID:32124548 PMID:33955014 PMID:35330407 PMID:35682590 More...
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|
NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962
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|
G |
Ap1g2 |
adaptor related protein complex 1 subunit gamma 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,571,571...28,579,421
Ensembl chr15:28,571,568...28,589,004
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|
G |
Ap4m1 |
adaptor related protein complex 4 subunit mu 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:24700674 PMID:25558065 PMID:25741868 PMID:32979048 |
|
NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
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|
G |
Arfgap1 |
ADP-ribosylation factor GTPase activating protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20805988 |
|
NCBI chr 3:168,084,560...168,099,948
Ensembl chr 3:168,084,614...168,099,933
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|
G |
Arfgef1 |
ADP ribosylation factor guanine nucleotide exchange factor 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 PMID:34113008 |
|
NCBI chr 5:8,982,061...9,076,326
Ensembl chr 5:8,981,540...9,076,326
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|
G |
Arfgef2 |
ADP ribosylation factor guanine nucleotide exchange factor 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 |
|
NCBI chr 3:155,547,504...155,633,652
Ensembl chr 3:155,547,538...155,630,856
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|
G |
Arhgef9 |
Cdc42 guanine nucleotide exchange factor 9 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:17893116 PMID:18615734 PMID:23033978 PMID:25678704 PMID:25741868 PMID:26834553 PMID:28492532 PMID:28589176 PMID:28708303 More...
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|
NCBI chr X:59,919,560...60,077,538
Ensembl chr X:59,920,870...60,077,513
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|
G |
Arid1b |
AT-rich interaction domain 1B |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741885 |
|
NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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|
G |
Arid5b |
AT-rich interaction domain 5B |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr20:20,307,731...20,490,746
Ensembl chr20:20,307,731...20,487,433
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|
G |
Arl14ep |
ADP-ribosylation factor like GTPase 14 effector protein |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 PMID:25741868 |
|
NCBI chr 3:93,441,952...93,454,282
Ensembl chr 3:93,443,183...93,454,155
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G |
As3mt |
arsenite methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28235556 |
|
NCBI chr 1:245,595,939...245,628,921
Ensembl chr 1:245,596,108...245,627,872
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G |
Ash1l |
ASH1 like histone lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:174,346,267...174,483,057
Ensembl chr 2:174,346,150...174,483,055
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|
G |
Ash2l |
ASH2 like histone lysine methyltransferase complex subunit |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:26539891 |
|
NCBI chr16:66,242,205...66,264,064
Ensembl chr16:66,242,212...66,264,061
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|
G |
Asxl1 |
ASXL transcriptional regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:21706002 PMID:25741868 PMID:28492532 |
|
NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
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G |
Asxl3 |
ASXL transcriptional regulator 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:32581362 |
|
NCBI chr18:13,593,529...13,766,324
Ensembl chr18:13,593,985...13,762,427
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G |
Atad5 |
ATPase family, AAA domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22241097 |
|
NCBI chr10:65,070,682...65,118,489
Ensembl chr10:65,070,689...65,117,845
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G |
Atoh1 |
atonal bHLH transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:93,912,068...93,914,163
Ensembl chr 4:93,912,068...93,914,154
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G |
Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:20301294 PMID:21911500 PMID:22842232 PMID:22850527 PMID:23409136 PMID:24631656 PMID:24842602 PMID:25681536 PMID:25741868 PMID:25996915 PMID:26410222 PMID:28293679 PMID:28492532 PMID:28637637 PMID:30071271 More...
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|
NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
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G |
Atp1b1 |
ATPase Na+/K+ transporting subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
|
NCBI chr13:76,786,580...76,807,096
Ensembl chr13:76,786,578...76,807,459
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G |
Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775
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G |
Atp6v0a1 |
ATPase H+ transporting V0 subunit a1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28135719 PMID:28492532 PMID:33833240 PMID:34909687 |
|
NCBI chr10:85,935,802...85,989,901
Ensembl chr10:85,935,854...85,989,895
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G |
Atrx |
ATRX, chromatin remodeler |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:26539891 PMID:28492532 PMID:29790871 |
|
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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G |
Auts2 |
activator of transcription and developmental regulator AUTS2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
|
NCBI chr12:24,104,187...25,194,123
Ensembl chr12:24,104,192...25,194,416
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G |
Bcap31 |
B-cell receptor-associated protein 31 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr X:151,397,567...151,429,666
Ensembl chr X:151,397,576...151,428,506
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G |
Bcas3 |
BCAS3, microtubule associated cell migration factor |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:34022130 |
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NCBI chr10:70,213,710...70,673,080
Ensembl chr10:70,214,098...70,673,080
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G |
Bcl11a |
BCL11 transcription factor A |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741869 |
|
NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180
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G |
Bcorl1 |
BCL6 co-repressor-like 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr X:127,516,504...127,584,529
Ensembl chr X:127,537,538...127,584,087
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G |
Bex3 |
brain expressed X-linked 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr X:99,273,270...99,274,799
Ensembl chr X:99,273,161...99,274,800
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G |
Bfsp2 |
beaded filament structural protein 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr 8:104,006,226...104,063,399
Ensembl chr 8:104,006,226...104,063,399
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G |
Bptf |
bromodomain PHD finger transcription factor |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28942966 |
|
NCBI chr10:91,980,279...92,082,731
Ensembl chr10:91,982,758...92,082,769
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Brpf1 |
bromodomain and PHD finger containing, 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:32652122 |
|
NCBI chr 4:146,456,325...146,472,781
Ensembl chr 4:146,456,318...146,472,649
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G |
Brwd3 |
bromodomain and WD repeat domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:36937954 |
|
NCBI chr X:73,768,343...73,861,643
Ensembl chr X:73,774,340...73,861,622
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G |
Btd |
biotinidase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945
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G |
C13h1orf105 |
similar to human chromosome 1 open reading frame 105 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741900 |
|
NCBI chr13:74,313,320...74,356,322
Ensembl chr13:74,313,322...74,356,322
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G |
C1h19orf12 |
similar to human chromosome 19 open reading frame 12 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:26539891 |
|
NCBI chr 1:90,873,578...90,887,205
Ensembl chr 1:90,873,549...90,886,208
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G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:16325861 PMID:16787562 PMID:18354422 PMID:20301674 PMID:24486772 PMID:25326635 PMID:25481746 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28742085 PMID:30011838 More...
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|
NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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G |
Cacna1i |
calcium voltage-gated channel subunit alpha1 I |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr 7:111,835,996...111,947,418
Ensembl chr 7:111,836,012...111,944,688
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G |
Camk2a |
calcium/calmodulin-dependent protein kinase II alpha |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741872 |
|
NCBI chr18:54,378,642...54,441,120
Ensembl chr18:54,378,784...54,438,994
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G |
Camk2b |
calcium/calmodulin-dependent protein kinase II beta |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29100089 PMID:30842224 PMID:31036916 PMID:32581362 PMID:32875707 More...
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|
NCBI chr14:80,845,206...80,934,172
Ensembl chr14:80,845,238...80,933,994
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G |
Camkmt |
calmodulin-lysine N-methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26247364 |
|
NCBI chr 6:9,198,945...9,580,200
Ensembl chr 6:9,198,947...9,580,242
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G |
Cask |
calcium/calmodulin dependent serine protein kinase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:32581362 |
|
NCBI chr X:8,899,500...9,243,014
Ensembl chr X:8,899,833...9,238,694
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G |
Casr |
calcium-sensing receptor |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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|
G |
Cbl |
Cbl proto-oncogene |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Global developmental delay |
CTD ClinVar |
PMID:20694012 |
|
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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G |
Cc2d1a |
coiled-coil and C2 domain containing 1A |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:32581362 |
|
NCBI chr19:24,011,897...24,026,937
Ensembl chr19:24,011,938...24,026,936
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G |
Cdk10 |
cyclin-dependent kinase 10 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr19:51,260,012...51,273,009
Ensembl chr19:51,261,356...51,269,078
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|
G |
Cdk13 |
cyclin-dependent kinase 13 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741891 PMID:27479907 PMID:28135719 PMID:28492532 PMID:28807008 PMID:29021403 PMID:29222009 PMID:29393965 PMID:30702837 PMID:30904094 More...
|
|
NCBI chr17:47,251,145...47,344,675
Ensembl chr17:47,251,163...47,341,721
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|
G |
Cdk20 |
cyclin-dependent kinase 20 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:29127259 |
|
NCBI chr17:701,122...707,869
Ensembl chr17:701,124...707,826
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|
G |
Cdk5rap2 |
CDK5 regulatory subunit associated protein 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:83,792,282...83,961,129
Ensembl chr 5:83,792,284...83,960,782
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G |
Cdkl5 |
cyclin-dependent kinase-like 5 |
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ISO |
ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:36937954 |
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NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
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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 2:196,029,206...196,053,848
Ensembl chr 2:196,029,434...196,053,845
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G |
Cep128 |
centrosomal protein 128 |
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ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:8964822 PMID:12050212 PMID:25741868 |
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NCBI chr 6:109,951,009...110,328,686
Ensembl chr 6:109,951,061...110,328,713
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G |
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:17564967 PMID:20690115 PMID:21866095 PMID:23847139 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28497568 PMID:29588463 PMID:31734136 More...
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NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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G |
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 chr11:44,683,503...44,711,471
Ensembl chr11:44,683,506...44,711,471
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G |
Chaf1b |
chromatin assembly factor 1 subunit B |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 |
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NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070
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G |
Champ1 |
chromosome alignment maintaining phosphoprotein 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr16:75,733,958...75,744,931
Ensembl chr16:75,733,805...75,744,984
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G |
Chd3 |
chromodomain helicase DNA binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:30397230 |
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NCBI chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047
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G |
Chd4 |
chromodomain helicase DNA binding protein 4 |
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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 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541
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G |
Chd5 |
chromodomain helicase DNA binding protein 5 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:33944996 |
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NCBI chr 5:162,848,273...162,898,997
Ensembl chr 5:162,848,394...162,896,291
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G |
Chrm4 |
cholinergic receptor, muscarinic 4 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 3:77,893,425...77,901,166
Ensembl chr 3:77,893,425...77,901,159
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G |
Chrna4 |
cholinergic receptor nicotinic alpha 4 subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20805988 |
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NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957
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G |
Clcn4 |
chloride voltage-gated channel 4 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:23,729,194...23,795,391
Ensembl chr X:23,729,338...23,793,238
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G |
Clcn6 |
chloride voltage-gated channel 6 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:33217309 |
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NCBI chr 5:158,434,299...158,465,174
Ensembl chr 5:158,434,299...158,465,059
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G |
Clip1 |
CAP-GLY domain containing linker protein 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr12:32,910,932...33,017,891
Ensembl chr12:32,910,977...33,017,884
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G |
Cltc |
clathrin heavy chain |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr10:71,517,661...71,574,591
Ensembl chr10:71,517,663...71,573,737
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G |
Cnot3 |
CCR4-NOT transcription complex, subunit 3 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 1:65,555,924...65,572,167
Ensembl chr 1:65,555,924...65,572,167
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G |
Cntn4 |
contactin 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15106122 |
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NCBI chr 4:138,624,584...139,622,499
Ensembl chr 4:139,099,152...139,621,090
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G |
Cog4 |
component of oligomeric golgi complex 4 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr19:38,820,478...38,854,803
Ensembl chr19:38,820,501...38,854,796
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G |
Col12a1 |
collagen type XII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686
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G |
Col1a2 |
collagen type I alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:28492532 PMID:30311386 |
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NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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G |
Coprs |
coordinator of PRMT5 and differentiation stimulator |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22241097 |
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NCBI chr16:75,721,264...75,726,375
Ensembl chr16:75,720,061...75,726,375
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G |
Coq8a |
coenzyme Q8A |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:18319074 PMID:20580948 PMID:24164873 PMID:28492532 |
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NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
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G |
Cpa6 |
carboxypeptidase A6 |
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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 More...
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NCBI chr 5:8,526,708...8,888,492
Ensembl chr 5:8,526,741...8,888,485
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G |
Cplane1 |
ciliogenesis and planar polarity effector complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:24178751 PMID:25407461 PMID:25558065 PMID:25741868 PMID:26092869 PMID:28125082 PMID:28492532 PMID:34008892 More...
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NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
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G |
Cradd |
CASP2 and RIPK1 domain containing adaptor with death domain |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 7:29,940,240...29,952,907
Ensembl chr 7:29,798,586...29,952,907
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G |
Creb3l1 |
cAMP responsive element binding protein 3-like 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 3:77,952,589...77,993,513
Ensembl chr 3:77,952,540...77,993,456
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G |
Crebbp |
CREB binding protein |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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G |
Crlf3 |
cytokine receptor-like factor 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22241097 |
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NCBI chr10:65,024,228...65,060,746
Ensembl chr10:65,023,388...65,060,670
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G |
Crybg1 |
crystallin beta-gamma domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr20:47,425,030...47,496,918
Ensembl chr20:47,426,183...47,621,392
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G |
Cspp1 |
centrosome and spindle pole associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:9,077,161...9,192,402
Ensembl chr 5:9,077,161...9,193,377
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G |
Ctnnb1 |
catenin beta 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 PMID:27848944 PMID:27915094 PMID:28492532 PMID:28575650 More...
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NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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G |
Cul4b |
cullin 4B |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:8135271 PMID:17236139 PMID:17273978 PMID:25741868 |
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NCBI chr X:117,287,481...117,326,688
Ensembl chr X:117,287,484...117,326,688
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G |
Cyfip2 |
cytoplasmic FMR1 interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741870 PMID:30664714 |
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NCBI chr10:30,621,318...30,741,113
Ensembl chr10:30,621,318...30,741,113
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G |
Cyp2u1 |
cytochrome P450, family 2, subfamily u, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:23176821 PMID:25558065 PMID:25741868 PMID:28492532 PMID:28600779 PMID:29034544 More...
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NCBI chr 2:219,849,403...219,866,959
Ensembl chr 2:219,849,407...219,866,882
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G |
Dchs1 |
dachsous cadherin-related 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30755392 |
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NCBI chr 1:160,104,931...160,138,958
Ensembl chr 1:160,104,931...160,124,808
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G |
Ddc |
dopa decarboxylase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:28492532 |
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NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208
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G |
Ddx3x |
DEAD-box helicase 3, X-linked |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741895 |
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NCBI chr X:9,479,532...9,493,169
Ensembl chr X:9,479,532...9,493,168
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G |
Ddx5 |
DEAD-box helicase 5 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr10:91,723,508...91,732,210
Ensembl chr10:91,723,508...91,732,283
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G |
Depdc5 |
DEP domain containing 5, GATOR1 subcomplex subunit |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794
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G |
Dgkz |
diacylglycerol kinase zeta |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 3:77,904,149...77,946,114
Ensembl chr 3:77,904,150...77,946,099
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G |
Dhcr7 |
7-dehydrocholesterol reductase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:8259166 PMID:8737829 PMID:9024557 PMID:9536098 PMID:9653161 PMID:9683613 PMID:10677299 PMID:10807690 PMID:10814720 PMID:10995508 PMID:11161831 PMID:11175299 PMID:11241839 PMID:11427181 PMID:11562938 PMID:12794707 PMID:15286151 PMID:15464432 PMID:15776424 PMID:15805162 PMID:15952211 PMID:16761297 PMID:16906538 PMID:17576681 PMID:17965227 PMID:18285838 PMID:19365639 PMID:20301322 PMID:20635399 PMID:21777499 PMID:22211794 PMID:22226660 PMID:22438180 PMID:22975760 PMID:23042628 PMID:23293579 PMID:23918729 PMID:24033266 PMID:24824134 PMID:25108116 PMID:25741868 PMID:25807282 PMID:26467025 PMID:28166604 PMID:28492532 PMID:29455191 PMID:32055014 PMID:33204589 PMID:35305950 More...
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NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055
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G |
Dhx30 |
DExH-box helicase 30 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28327206 PMID:29100085 PMID:32581362 |
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NCBI chr 8:110,064,751...110,096,954
Ensembl chr 8:110,064,752...110,097,381
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G |
Diaph1 |
diaphanous-related formin 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:24781755 PMID:25558065 PMID:25741868 |
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NCBI chr18:29,669,659...29,769,070
Ensembl chr18:29,669,659...29,769,172
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G |
Dip2c |
disco-interacting protein 2 homolog C |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr17:60,647,346...61,032,467
Ensembl chr17:60,649,065...61,032,305
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G |
Dmbx1 |
diencephalon/mesencephalon homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 |
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NCBI chr 5:129,394,221...129,403,040
Ensembl chr 5:129,394,221...129,403,040
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G |
Dnhd1 |
dynein heavy chain domain 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 1:159,990,785...160,077,990
Ensembl chr 1:159,990,438...160,074,858
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G |
Dock3 |
dedicator of cyto-kinesis 3 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:30976111 |
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NCBI chr 8:107,552,462...107,903,527
Ensembl chr 8:107,552,463...107,903,514
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G |
Dock8 |
dedicator of cytokinesis 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18060736 |
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NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
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G |
Dph2 |
diphthamide biosynthesis 2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:32576952 |
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NCBI chr 5:131,428,434...131,431,394
Ensembl chr 5:131,428,268...131,431,395
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G |
Dpyd |
dihydropyrimidine dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 PMID:9439663 PMID:9470816 PMID:9472650 PMID:9686374 PMID:10071185 PMID:10657402 PMID:10803677 PMID:11156223 PMID:11350878 PMID:11555601 PMID:11895907 PMID:11953843 PMID:11988088 PMID:12209976 PMID:12360106 PMID:12912951 PMID:15017333 PMID:15858133 PMID:16151913 PMID:16361556 PMID:17000685 PMID:17064846 PMID:17121937 PMID:17165084 PMID:17203168 PMID:17335544 PMID:17700593 PMID:18299612 PMID:18443386 PMID:18600527 PMID:19104657 PMID:19473056 PMID:19530960 PMID:19795123 PMID:19858398 PMID:20385995 PMID:20507294 PMID:20803296 PMID:20809970 PMID:20819423 PMID:21410976 PMID:21498394 PMID:21723269 PMID:21919607 PMID:22339448 PMID:22992668 PMID:23328581 PMID:23335937 PMID:23481061 PMID:23585145 PMID:23603345 PMID:23736036 PMID:23930673 PMID:24167597 PMID:24590654 PMID:24647007 PMID:24648345 PMID:24700034 PMID:24817302 PMID:24923815 PMID:25381393 PMID:25410891 PMID:25590979 PMID:25677447 PMID:25741868 PMID:26099996 PMID:26216193 PMID:26265035 PMID:26467025 PMID:26603945 PMID:26794347 PMID:26804652 PMID:26846104 PMID:26967565 PMID:27454530 PMID:27738344 PMID:27864592 PMID:28295243 PMID:28481884 PMID:28929491 PMID:28950804 PMID:29065426 PMID:29134491 PMID:29152729 PMID:29998006 PMID:30114658 PMID:30348537 PMID:30485432 PMID:30723313 PMID:30775324 PMID:30898145 PMID:31382864 PMID:31745289 More...
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NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
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G |
Drd2 |
dopamine receptor D2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21592505 |
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NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875
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G |
Drp2 |
dystrophin related protein 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:28492532 |
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NCBI chr X:97,607,577...97,658,117
Ensembl chr X:97,607,719...97,655,684
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G |
Dsp |
desmoplakin |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741904 PMID:28527814 PMID:31028357 |
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NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25590979 PMID:25741868 PMID:27754416 PMID:28492532 PMID:29286531 |
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NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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G |
Dyrk1a |
dual specificity tyrosine phosphorylation regulated kinase 1A |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25167861 PMID:25326635 PMID:25641759 PMID:25741868 PMID:25741883 PMID:25920557 PMID:25944381 PMID:28492532 PMID:32581362 More...
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NCBI chr11:33,890,706...34,009,420
Ensembl chr11:33,890,490...34,009,420
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G |
Ears2 |
glutamyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22492562 PMID:25058219 PMID:25741868 PMID:26893310 PMID:28492532 |
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NCBI chr 1:176,597,986...176,625,848
Ensembl chr 1:176,597,986...176,625,836
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G |
Ebf3 |
EBF transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28017370 PMID:28017372 PMID:32581362 PMID:33956416 PMID:35340043 More...
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NCBI chr 1:191,996,726...192,114,593
Ensembl chr 1:191,996,730...192,114,359
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G |
Eef1b2 |
eukaryotic translation elongation factor 1 beta 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 9:64,580,163...64,582,737
Ensembl chr 9:64,579,893...64,582,737
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G |
Eftud2 |
elongation factor Tu GTP binding domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741880 |
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NCBI chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079
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G |
Ehmt1 |
euchromatic histone lysine methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:16199547 PMID:16826528 PMID:19264732 PMID:23232695 PMID:25741868 PMID:28492532 PMID:30370152 PMID:31623504 More...
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NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007
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G |
Eif2ak2 |
eukaryotic translation initiation factor 2-alpha kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:32197074 |
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NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971
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G |
Elavl2 |
ELAV like RNA binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr 5:105,960,872...106,086,463
Ensembl chr 5:105,960,875...106,109,097
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G |
Elp4 |
elongator acetyltransferase complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
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G |
Emc1 |
ER membrane protein complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:26572623 PMID:26942288 PMID:28492532 PMID:29271071 PMID:32092440 More...
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NCBI chr 5:151,608,557...151,633,888
Ensembl chr 5:151,608,568...151,633,888
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G |
Entpd1 |
ectonucleoside triphosphate diphosphohydrolase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317
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G |
Epg5 |
ectopic P-granules 5 autophagy tethering factor |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:28492532 |
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NCBI chr18:71,403,990...71,502,079
Ensembl chr18:71,404,010...71,501,502
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G |
Eprs1 |
glutamyl-prolyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966
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G |
Eri1 |
exoribonuclease 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr16:56,724,101...56,744,228
Ensembl chr16:56,724,115...56,744,226
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G |
Evi2a |
ecotropic viral integration site 2A |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22241097 |
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NCBI chr10:64,485,760...64,489,660
Ensembl chr10:64,485,200...64,489,843
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G |
Evi2b |
ecotropic viral integration site 2B |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22241097 |
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NCBI chr10:64,472,693...64,474,311
Ensembl chr10:64,471,505...64,481,560
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G |
Fancd2 |
FA complementation group D2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25927356 PMID:28492532 |
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NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
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G |
Fancd2os |
FANCD2 opposite strand |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25927356 PMID:28492532 |
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NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569
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G |
Fars2 |
phenylalanyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22499341 PMID:22833457 PMID:25558065 PMID:25741868 PMID:28492532 PMID:30177229 PMID:30869852 More...
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NCBI chr17:28,319,215...28,746,217
Ensembl chr17:28,319,280...28,746,337
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G |
Fat3 |
FAT atypical cadherin 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
|
NCBI chr 8:12,691,470...13,274,336
Ensembl chr 8:12,694,019...13,273,135
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G |
Fbn2 |
fibrillin 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:30311386 |
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NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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G |
Fktn |
fukutin |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
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G |
Flna |
filamin A |
|
ISO |
ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:16684786 PMID:20730588 PMID:25741868 PMID:26471271 PMID:28492532 PMID:36937954 More...
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Foxg1 |
forkhead box G1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:19578037 PMID:25741868 PMID:28492532 PMID:28661489 PMID:32581362 |
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NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607
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G |
Foxp4 |
forkhead box P4 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 9:13,058,506...13,115,406
Ensembl chr 9:13,058,476...13,114,879
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G |
Foxred1 |
FAD-dependent oxidoreductase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192
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G |
Fzr1 |
fizzy and cell division cycle 20 related 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 7:8,332,029...8,343,953
Ensembl chr 7:8,332,029...8,343,952
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G |
Gabbr1 |
gamma-aminobutyric acid type B receptor subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:36103875 |
|
NCBI chr20:1,464,534...1,494,114
Ensembl chr20:1,464,534...1,493,994
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G |
Gabrb3 |
gamma-aminobutyric acid type A receptor subunit beta 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:18514161 PMID:22303015 PMID:25741868 PMID:28492532 PMID:35383156 |
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NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961
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G |
Gemin4 |
gem (nuclear organelle) associated protein 4 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 PMID:25741868 PMID:27878435 |
|
NCBI chr10:61,062,420...61,073,529
Ensembl chr10:61,066,425...61,073,431 Ensembl chr10:61,066,425...61,073,431
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G |
Gk |
glycerol kinase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr X:50,162,089...50,238,707
Ensembl chr X:50,163,123...50,238,631
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G |
Gldc |
glycine decarboxylase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:10873393 PMID:11286506 PMID:12126939 PMID:15670722 PMID:15791207 PMID:17361008 PMID:20301531 PMID:25741868 PMID:26179960 PMID:27362913 PMID:28492532 More...
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|
NCBI chr 1:227,883,249...227,962,119
Ensembl chr 1:227,883,249...227,962,097
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G |
Gli3 |
GLI family zinc finger 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
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G |
Gmppa |
GDP-mannose pyrophosphorylase A |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:24035193 |
|
NCBI chr 9:76,926,724...76,934,274
Ensembl chr 9:76,926,739...76,934,269
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|
G |
Gmppb |
GDP-mannose pyrophosphorylase B |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:108,737,429...108,740,437
Ensembl chr 8:108,693,060...108,767,286
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G |
Gnao1 |
G protein subunit alpha o1 |
|
ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:25356970 PMID:25741868 PMID:25966631 PMID:26795593 PMID:27068059 PMID:28492532 PMID:28628939 PMID:28688840 PMID:28747448 PMID:29761117 PMID:31406558 PMID:33298085 More...
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|
NCBI chr19:11,034,874...11,192,531
Ensembl chr19:11,035,956...11,192,493
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G |
Gnb1 |
G protein subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:27759915 PMID:28087732 PMID:28492532 PMID:29694806 PMID:30194818 PMID:30504930 PMID:31735425 PMID:32134617 PMID:32918542 PMID:32963807 PMID:35253369 PMID:36405774 More...
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|
NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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G |
Gnb2 |
G protein subunit beta 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:33971351 |
|
NCBI chr12:19,159,002...19,164,021
Ensembl chr12:19,158,973...19,164,019
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G |
Gnb5 |
G protein subunit beta 5 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741873 PMID:27523599 PMID:27677260 PMID:30631341 PMID:31130284 PMID:33172956 PMID:33176815 More...
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|
NCBI chr 8:76,076,120...76,105,069
Ensembl chr 8:76,073,306...76,105,069
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G |
Golph3 |
golgi phosphoprotein 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:61,348,030...61,376,051
Ensembl chr 2:61,348,030...61,376,049
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G |
Grcc10 |
gene rich cluster, C10 gene |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:21937992 PMID:23453665 PMID:23453666 PMID:23633300 PMID:24798461 PMID:25326635 PMID:25558065 PMID:25741868 PMID:28097321 PMID:28454995 PMID:28492532 PMID:28600779 PMID:29383837 More...
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NCBI chr 4:157,551,276...157,552,924
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G |
Gria3 |
glutamate ionotropic receptor AMPA type subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741907 |
|
NCBI chr X:120,238,515...120,504,106
Ensembl chr X:120,238,534...120,504,096
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G |
Gria4 |
glutamate ionotropic receptor AMPA type subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:1,562,118...2,035,035
Ensembl chr 8:1,562,119...2,034,979
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G |
Grin1 |
glutamate ionotropic receptor NMDA type subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:27159321 PMID:28492532 PMID:30755392 |
|
NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
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G |
Grin2a |
glutamate ionotropic receptor NMDA type subunit 2A |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637
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G |
Grin2b |
glutamate ionotropic receptor NMDA type subunit 2B |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741871 |
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NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
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G |
Grm1 |
glutamate metabotropic receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741889 PMID:31319223 |
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NCBI chr 1:5,058,285...5,453,170
Ensembl chr 1:5,058,292...5,453,170
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G |
Grm7 |
glutamate metabotropic receptor 7 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 4:143,730,862...144,613,230
Ensembl chr 4:143,731,259...144,612,344
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G |
Gtpbp3 |
GTP binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr16:18,175,766...18,180,857
Ensembl chr16:18,175,766...18,180,857
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G |
H3f3a |
H3.3 histone A |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:21636898 PMID:25741868 PMID:33268356 PMID:34876591 |
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NCBI chr13:92,533,289...92,544,902
Ensembl chr13:92,533,298...92,544,908
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G |
H3f3b |
H3.3 histone B |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:33268356 PMID:34876591 |
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NCBI chr10:101,256,484...101,258,716
Ensembl chr10:101,256,480...101,258,709
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G |
Hace1 |
HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:26424145 PMID:26437029 PMID:28492532 PMID:32581362 |
|
NCBI chr20:49,035,312...49,151,103
Ensembl chr20:49,035,648...49,151,103
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G |
Harbi1 |
harbinger transposase derived 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr 3:77,681,431...77,689,749
Ensembl chr 3:77,681,431...77,689,724
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G |
Hdac8 |
histone deacetylase 8 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:26671848 |
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NCBI chr X:67,385,288...67,593,014
Ensembl chr X:67,385,289...67,592,923
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G |
Herc2 |
HECT and RLD domain containing E3 ubiquitin protein ligase 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:30755392 |
|
NCBI chr 1:106,904,789...107,110,997
Ensembl chr 1:106,880,084...107,108,134
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G |
Hexa |
hexosaminidase subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:1318511 PMID:1831451 PMID:1832817 PMID:1833974 PMID:2137287 PMID:2521932 PMID:2961848 PMID:2973311 PMID:7551830 PMID:8730294 PMID:16088929 PMID:17015493 PMID:18490185 PMID:20100466 PMID:20301350 PMID:22441121 PMID:22789865 PMID:23359698 PMID:24953648 PMID:25041270 PMID:25741868 PMID:25741876 PMID:28359061 PMID:28492532 More...
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|
NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013
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G |
Hpd |
4-hydroxyphenylpyruvate dioxygenase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:32581362 |
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NCBI chr12:33,381,397...33,392,750
Ensembl chr12:33,381,231...33,392,766
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G |
Hspb9 |
heat shock protein family B (small) member 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31546644 |
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NCBI chr10:85,641,284...85,641,929
Ensembl chr10:85,641,284...85,641,929
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G |
Huwe1 |
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741905 PMID:28492532 |
|
NCBI chr X:20,873,795...21,001,378
Ensembl chr X:20,873,795...21,001,262
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G |
Iars1 |
isoleucyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr17:14,940,919...14,987,277
Ensembl chr17:14,940,924...14,987,237
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G |
Ids |
iduronate 2-sulfatase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30755392 PMID:34670126 |
|
NCBI chr X:149,025,976...149,046,641
Ensembl chr X:149,025,976...149,046,663
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G |
Irf2bpl |
interferon regulatory factor 2 binding protein-like |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:106,527,179...106,531,294
Ensembl chr 6:106,528,053...106,530,401
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G |
Isca2 |
iron-sulfur cluster assembly 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25434003 PMID:25539947 PMID:25558065 PMID:25741868 PMID:28492532 PMID:29122497 PMID:29297947 PMID:29470032 More...
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|
NCBI chr 6:104,418,509...104,420,019
Ensembl chr 6:104,418,454...104,420,045
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G |
Kansl1 |
KAT8 regulatory NSL complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:20301783 PMID:22544363 PMID:22544367 PMID:25741868 PMID:25741877 PMID:28492532 More...
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NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951
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G |
Kars1 |
lysyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:33260297 |
|
NCBI chr19:39,957,846...39,976,837
Ensembl chr19:39,957,846...39,977,632
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G |
Kat14 |
lysine acetyltransferase 14 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:26539891 |
|
NCBI chr 3:131,736,430...131,781,732
Ensembl chr 3:131,736,549...131,781,706
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G |
Kat6a |
lysine acetyltransferase 6A |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606
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G |
Kat6b |
lysine acetyltransferase 6B |
|
ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:36937954 |
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NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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G |
Kcna2 |
potassium voltage-gated channel subfamily A member 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:194,704,555...194,718,387
Ensembl chr 2:194,704,639...194,718,400
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G |
Kcna3 |
potassium voltage-gated channel subfamily A member 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:194,632,106...194,634,059
Ensembl chr 2:194,632,196...194,650,138
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G |
Kcnma1 |
potassium calcium-activated channel subfamily M alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
|
NCBI chr15:302,480...1,007,675
Ensembl chr15:302,214...1,001,198
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G |
Kcnn2 |
potassium calcium-activated channel subfamily N member 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:16002581 PMID:25741868 PMID:28492532 PMID:33242881 |
|
NCBI chr18:37,817,966...38,258,347
Ensembl chr18:37,817,957...38,258,347
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Global developmental delay |
CTD ClinVar |
PMID:12754513 PMID:20805988 PMID:22275249 PMID:24318194 PMID:25741868 PMID:25880994 PMID:27602407 PMID:28492532 PMID:29760947 PMID:31152295 PMID:31832524 PMID:32139178 PMID:32573669 PMID:32581362 PMID:32917465 PMID:34711204 PMID:35104249 More...
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NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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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 9:23,830,185...24,395,984
Ensembl chr 9:23,833,087...24,394,704
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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 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667
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Kdm1a |
lysine demethylase 1A |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319
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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 chr12:33,566,530...33,701,366
Ensembl chr12:33,574,657...33,701,355
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Kdm3b |
lysine demethylase 3B |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr18:26,380,859...26,436,701
Ensembl chr18:26,380,964...26,436,628
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Kdm6a |
lysine demethylase 6A |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062
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Kif1a |
kinesin family member 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30559488 |
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NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
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Kif1b |
kinesin family member 1B |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:28492532 |
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NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
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Kif5b |
kinesin family member 5B |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr17:51,489,904...51,527,508
Ensembl chr17:51,489,944...51,527,508
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Kirrel3 |
kirre like nephrin family adhesion molecule 3 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 8:32,865,779...33,407,555
Ensembl chr 8:32,862,776...33,405,676
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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 1:85,821,700...85,840,987
Ensembl chr 1:85,821,753...85,841,326
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Kmt2c |
lysine methyltransferase 2C |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22832583 PMID:25741868 PMID:29926297 PMID:30352910 PMID:30981987 |
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NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
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Kmt2e |
lysine methyltransferase 2E |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 4:11,658,218...11,727,373
Ensembl chr 4:11,658,979...11,727,373
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Kmt5b |
lysine methyltransferase 5B |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 1:201,000,444...201,049,819
Ensembl chr 1:201,000,444...201,049,819
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L1cam |
L1 cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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Las1l |
LAS1-like, ribosome biogenesis factor |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25644381 PMID:28492532 |
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NCBI chr X:60,851,969...60,873,717
Ensembl chr X:60,851,962...60,873,687
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Letm1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:36055214 |
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NCBI chr14:76,942,647...76,982,220
Ensembl chr14:76,942,729...76,984,904
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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 2:56,224,393...56,292,988
Ensembl chr 2:56,250,120...56,286,699
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Lmbrd2 |
LMBR1 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:25741868 PMID:32820033 |
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NCBI chr 2:58,189,558...58,251,565
Ensembl chr 2:58,189,558...58,247,076
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Lrig2 |
leucine-rich repeats and immunoglobulin-like domains 2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741906 |
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NCBI chr 2:191,947,322...192,012,996
Ensembl chr 2:191,949,819...192,012,579
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Lrp1 |
LDL receptor related protein 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
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Lrp2 |
LDL receptor related protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Global developmental delay |
CTD ClinVar |
PMID:17632512 PMID:25741868 PMID:28492532 |
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NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
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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 1:152,785,709...152,802,997
Ensembl chr 1:152,786,511...152,798,373
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Lsm1 |
LSM1 homolog, mRNA degradation associated |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:31010896 |
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NCBI chr16:66,277,345...66,288,852
Ensembl chr16:66,277,345...66,288,852
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Macf1 |
microtubule-actin crosslinking factor 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 5:135,623,734...135,949,097
Ensembl chr 5:135,623,742...135,945,905
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Maf |
MAF bZIP transcription factor |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
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Man1b1 |
mannosidase, alpha, class 1B, member 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:21763484 PMID:21937992 PMID:24348268 PMID:24566669 PMID:25741868 PMID:26279649 PMID:27148587 PMID:29908352 More...
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NCBI chr 3:8,143,877...8,165,007
Ensembl chr 3:8,143,381...8,165,006
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Map1b |
microtubule-associated protein 1B |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:30979967 |
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NCBI chr 2:30,817,261...30,910,458
Ensembl chr 2:30,817,261...30,910,317
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Mapk3 |
mitogen activated protein kinase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30559488 |
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NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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Mapk8ip3 |
mitogen-activated protein kinase 8 interacting protein 3 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr10:13,918,417...13,958,335
Ensembl chr10:13,918,400...13,958,273
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Mcph1 |
microcephalin 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 |
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NCBI chr16:71,021,855...71,224,067
Ensembl chr16:71,024,588...71,224,122
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Mdk |
midkine |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 3:77,901,134...77,903,997
Ensembl chr 3:77,901,158...77,903,130
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Mea1 |
male-enhanced antigen 1 |
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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:28191890 PMID:28492532 PMID:28554332 PMID:29296277 PMID:30676711 PMID:32074998 More...
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NCBI chr 9:14,300,283...14,304,130
Ensembl chr 9:14,293,446...14,302,060
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Mecp2 |
methyl CpG binding protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Global developmental delay |
CTD ClinVar |
PMID:10577905 PMID:10745042 PMID:10767337 PMID:10814718 PMID:10814719 PMID:10854091 PMID:10944854 PMID:10991688 PMID:10991689 PMID:11007980 PMID:11055898 PMID:11058114 PMID:11106359 PMID:11214906 PMID:11241840 PMID:11245712 PMID:11269512 PMID:11283201 PMID:11309679 PMID:11313756 PMID:11313764 PMID:11331619 PMID:11376998 PMID:11402105 PMID:11462237 PMID:11469283 PMID:11738860 PMID:11738864 PMID:11738879 PMID:11738883 PMID:11738885 PMID:11913567 PMID:11960578 PMID:12081725 PMID:12111643 PMID:12180070 PMID:12325033 PMID:12746405 PMID:12872250 PMID:12872251 PMID:14536082 PMID:15057977 PMID:15070486 PMID:15173251 PMID:15228575 PMID:15389714 PMID:15526954 PMID:15737703 PMID:16077729 PMID:16183801 PMID:16473305 PMID:16629931 PMID:16672765 PMID:17089071 PMID:17341617 PMID:17387578 PMID:17505203 PMID:17986102 PMID:18334558 PMID:18652533 PMID:19559301 PMID:19722030 PMID:20031356 PMID:20301670 PMID:20631224 PMID:21154482 PMID:21160487 PMID:21695138 PMID:21982064 PMID:22277191 PMID:23238081 PMID:23262346 PMID:23270700 PMID:24283265 PMID:24399845 PMID:24511209 PMID:24626160 PMID:25167861 PMID:25541993 PMID:25741868 PMID:26467025 PMID:28492532 PMID:34008892 PMID:34837432 More...
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NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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Med12 |
mediator complex subunit 12 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:10405444 PMID:17334363 PMID:18691967 PMID:18805826 PMID:18973276 PMID:19938245 PMID:20301719 PMID:20981778 PMID:23091001 PMID:25326635 PMID:25741868 PMID:26350204 PMID:28369444 PMID:28492532 More...
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NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387
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Med13l |
mediator complex subunit 13L |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25712080 PMID:25741868 PMID:25741884 PMID:25758992 PMID:28492532 PMID:31785789 More...
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NCBI chr12:37,807,596...38,004,886
Ensembl chr12:37,808,285...38,004,473
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Mefv |
MEFV innate immunity regulator, pyrin |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 PMID:10879615 PMID:11464248 PMID:11938447 PMID:11977178 PMID:15643295 PMID:15942916 PMID:16785446 PMID:16889173 PMID:18353061 PMID:19790133 PMID:20008920 PMID:21290976 PMID:21600797 PMID:22037353 PMID:23334425 PMID:23907647 PMID:24318677 PMID:24369413 PMID:25741868 PMID:27030597 PMID:28492532 PMID:30171907 PMID:33223529 More...
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NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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Mfn2 |
mitofusin 2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:16714318 PMID:16835246 PMID:21715711 PMID:23781337 PMID:26955893 PMID:28492532 More...
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NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342
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Mgat2 |
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:20684000 PMID:22105986 PMID:25558065 PMID:28492532 PMID:28742265 |
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NCBI chr 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177
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Mir193a |
microRNA 193a |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22241097 |
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NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454
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Mlh1 |
mutL homolog 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:9311737 PMID:11948175 PMID:15475387 PMID:16736289 PMID:17135187 PMID:17210669 PMID:17510385 PMID:21404117 PMID:22843852 PMID:23741719 PMID:25085752 PMID:25741868 PMID:26467025 PMID:26552419 PMID:28492532 PMID:28514183 PMID:28767289 PMID:30504929 PMID:31332305 PMID:32719484 PMID:33471991 PMID:36054288 More...
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NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
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Morc2 |
MORC family CW-type zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741893 PMID:26497905 PMID:27105897 PMID:28492532 PMID:29440755 PMID:30624633 PMID:31211173 PMID:32693025 PMID:34059105 More...
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NCBI chr14:78,529,603...78,571,375
Ensembl chr14:78,527,009...78,571,343
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Morf4l2 |
mortality factor 4 like 2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr X:100,082,562...100,093,658
Ensembl chr X:100,082,404...100,093,728
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Mpp4 |
MAGUK p55 scaffold protein 4 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 9:60,569,734...60,613,035
Ensembl chr 9:60,569,734...60,611,797
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Msl3 |
MSL complex subunit 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30224647 |
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NCBI chr X:25,638,029...25,655,698
Ensembl chr X:25,637,804...25,655,697
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Mt-nd1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:28027978 |
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NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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Mt-nd4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
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ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:28027978 |
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NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
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Mtcl3 |
MTCL family member 3 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 1:28,629,036...28,701,416
Ensembl chr 1:28,620,293...28,701,796
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Mthfr |
methylenetetrahydrofolate reductase |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Mto1 |
mitochondrial tRNA translation optimization 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22608499 PMID:23929671 PMID:24033266 PMID:25058219 PMID:25741868 PMID:25741892 PMID:28492532 More...
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NCBI chr 8:79,309,681...79,335,231
Ensembl chr 8:79,309,982...79,335,231
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Mtss2 |
MTSS I-BAR domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 |
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NCBI chr19:38,692,793...38,714,575
Ensembl chr19:38,693,194...38,713,507
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Mycbp2 |
MYC binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr15:79,937,354...80,175,432
Ensembl chr15:79,937,354...80,175,498
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Myh10 |
myosin heavy chain 10 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr10:53,393,901...53,525,174
Ensembl chr10:53,394,389...53,525,165
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Myo15a |
myosin XVA |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26445815 PMID:27375115 PMID:28492532 |
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NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340
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Myo19 |
myosin XIX |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:69,753,082...69,782,450
Ensembl chr10:69,753,068...69,782,450
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Naa15 |
N(alpha)-acetyltransferase 15, NatA auxiliary subunit |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28191889 PMID:28303347 PMID:29656860 |
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NCBI chr 2:135,458,018...135,520,756
Ensembl chr 2:135,457,948...135,520,756
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Nans |
N-acetylneuraminate synthase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27213289 |
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NCBI chr 5:60,780,441...60,797,583
Ensembl chr 5:60,780,392...60,814,950
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Nbea |
neurobeachin |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 2:139,780,021...140,338,639
Ensembl chr 2:139,780,021...140,340,584
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G |
Nckap1 |
NCK-associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741875 |
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NCBI chr 3:65,417,450...65,491,769
Ensembl chr 3:65,417,453...65,492,217
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Ncor1 |
nuclear receptor co-repressor 1 |
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ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
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NCBI chr10:46,999,536...47,142,294
Ensembl chr10:46,999,536...47,141,032
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G |
Ndc1 |
NDC1 transmembrane nucleoporin |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 5:122,155,992...122,202,295
Ensembl chr 5:122,155,967...122,202,291
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G |
Ndst1 |
N-deacetylase and N-sulfotransferase 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25125150 PMID:25741868 PMID:27620904 PMID:27870114 PMID:28492532 |
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NCBI chr18:54,136,887...54,199,545
Ensembl chr18:54,140,779...54,178,191
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G |
Nf1 |
neurofibromin 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22241097 |
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NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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G |
Nfe2l1 |
NFE2 like bZIP transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr10:81,796,055...81,812,926
Ensembl chr10:81,800,366...81,832,318
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G |
Ngly1 |
N-glycanase 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:32581362 |
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NCBI chr15:9,153,738...9,210,228
Ensembl chr15:9,153,738...9,204,630
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G |
Nipbl |
NIPBL, cohesin loading factor |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30606125 PMID:31157197 More...
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NCBI chr 2:57,399,443...57,586,770
Ensembl chr 2:57,399,445...57,565,899
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G |
Nkap |
NFKB activating protein |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr X:116,373,031...116,392,677
Ensembl chr X:116,372,839...116,394,945
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G |
Nmnat1 |
nicotinamide nucleotide adenylyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:20301475 PMID:22842227 PMID:22842229 PMID:22842230 PMID:22842231 PMID:23040504 PMID:24033266 PMID:24625443 PMID:24830548 PMID:24940029 PMID:25741868 PMID:26018082 PMID:26103963 PMID:27032803 PMID:28041643 PMID:28492532 PMID:29184169 PMID:30004997 PMID:32150116 PMID:32533184 PMID:32581362 More...
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NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180
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G |
Nol11 |
nucleolar protein 11 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:28942966 |
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NCBI chr10:92,119,000...92,141,688
Ensembl chr10:92,121,833...92,141,677
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G |
Nono |
non-POU domain containing, octamer-binding |
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ISO |
DNA:missense mutation:CDS:p.P459A (human) |
RGD |
PMID:36653413 |
RGD:155900764 |
NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952
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G |
Npc2 |
NPC intracellular cholesterol transporter 2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:12955717 PMID:15937921 PMID:25558065 PMID:25741868 PMID:25764212 PMID:28492532 More...
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NCBI chr 6:104,397,239...104,418,161
Ensembl chr 6:104,378,644...104,418,155
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G |
Nr2f1 |
nuclear receptor subfamily 2, group F, member 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 2:8,040,375...8,050,123
Ensembl chr 2:8,040,377...8,050,123
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G |
Nr4a2 |
nuclear receptor subfamily 4, group A, member 2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 3:41,689,847...41,707,036
Ensembl chr 3:41,689,851...41,697,877
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G |
Nsmce2 |
NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 7:90,936,112...91,173,435
Ensembl chr 7:90,936,112...91,164,899
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G |
Nsun2 |
NOP2/Sun RNA methyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 1:33,662,139...33,685,887
Ensembl chr 1:33,662,139...33,685,862
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G |
Ntng2 |
netrin G2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:31372774 PMID:31692205 |
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NCBI chr 3:12,492,574...12,551,104
Ensembl chr 3:12,492,639...12,545,890
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G |
Ntrk2 |
neurotrophic receptor tyrosine kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15494731 |
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NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
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G |
Nup107 |
nucleoporin 107 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:30179222 |
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NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370
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G |
Nup155 |
nucleoporin 155 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 2:57,201,310...57,252,918
Ensembl chr 2:57,201,272...57,254,148
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G |
Nup214 |
nucleoporin 214 |
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ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
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NCBI chr 3:15,255,111...15,340,568
Ensembl chr 3:15,255,119...15,340,568
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G |
Ocln |
occludin |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 |
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NCBI chr 2:31,657,217...31,707,466
Ensembl chr 2:31,657,220...31,764,150
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G |
Omg |
oligodendrocyte-myelin glycoprotein |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22241097 |
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NCBI chr10:64,461,350...64,464,084
Ensembl chr10:64,461,350...64,464,084
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G |
Otc |
ornithine transcarbamylase |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:12,453,834...12,529,954
Ensembl chr X:12,453,834...12,566,918
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G |
Pacs1 |
phosphofurin acidic cluster sorting protein 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:23159249 PMID:25326635 PMID:25356970 PMID:25522177 PMID:25533962 PMID:25741868 PMID:25741881 PMID:26795593 PMID:26842493 PMID:26944241 PMID:27681385 PMID:28111752 PMID:28135719 PMID:28471432 PMID:28492532 PMID:28554332 PMID:28628100 PMID:28975623 PMID:29550517 PMID:30113927 PMID:30588754 PMID:30690871 PMID:32963807 PMID:34068396 More...
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NCBI chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473
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G |
Parp10 |
poly (ADP-ribose) polymerase family, member 10 |
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ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 7:107,949,031...107,958,377
Ensembl chr 7:107,949,043...107,958,304
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G |
Pc |
pyruvate carboxylase |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741903 |
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NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380
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G |
Pccb |
propionyl-CoA carboxylase subunit beta |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234
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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:21053371 PMID:22267240 PMID:22946748 PMID:23334464 PMID:25741868 PMID:27143072 PMID:27527380 PMID:28492532 More...
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NCBI chr X:96,767,686...96,873,477
Ensembl chr X:96,771,947...96,873,524
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G |
Pcgf2 |
polycomb group ring finger 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:15525528 PMID:25741868 PMID:25741869 PMID:25741894 PMID:28492532 PMID:30343942 More...
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NCBI chr10:82,682,563...82,694,563
Ensembl chr10:82,683,553...82,693,406
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G |
Pcnt |
pericentrin |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
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G |
Pde10a |
phosphodiesterase 10A |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:27058446 PMID:32581362 |
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NCBI chr 1:51,765,743...52,218,086
Ensembl chr 1:51,770,132...52,216,563
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G |
Pdzd2 |
PDZ domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 2:61,384,614...61,770,516
Ensembl chr 2:61,386,381...61,770,524
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G |
Pelp1 |
proline, glutamate and leucine rich protein 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr10:55,094,798...55,111,833
Ensembl chr10:55,094,796...55,111,994
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G |
Pepd |
peptidase D |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:28492532 |
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NCBI chr 1:87,536,650...87,681,233
Ensembl chr 1:87,536,609...87,681,231
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G |
Pex1 |
peroxisomal biogenesis factor 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
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G |
Pgap3 |
post-GPI attachment to proteins phospholipase 3 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:30345601 |
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NCBI chr10:83,387,113...83,399,357
Ensembl chr10:83,387,113...83,398,628
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G |
Phactr1 |
phosphatase and actin regulator 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr17:21,560,364...22,040,166
Ensembl chr17:21,562,721...22,039,831
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G |
Phf6 |
PHD finger protein 6 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr X:132,656,658...132,699,720
Ensembl chr X:132,656,672...132,699,127
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G |
Pigc |
phosphatidylinositol glycan anchor biosynthesis, class C |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741900 |
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NCBI chr13:74,343,619...74,346,148
Ensembl chr13:74,296,854...74,346,211
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G |
Pigq |
phosphatidylinositol glycan anchor biosynthesis, class Q |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:24463883 PMID:25558065 PMID:28492532 |
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NCBI chr10:14,942,571...14,958,584
Ensembl chr10:14,942,577...14,958,584
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G |
Pigt |
phosphatidylinositol glycan anchor biosynthesis, class T |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:27916860 PMID:30976099 PMID:32581362 |
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NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
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G |
Pigw |
phosphatidylinositol glycan anchor biosynthesis, class W |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:69,746,996...69,782,656
Ensembl chr10:69,748,789...69,790,475
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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G |
Pik3r2 |
phosphoinositide-3-kinase regulatory subunit 2 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065
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G |
Plp1 |
proteolipid protein 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr X:100,184,039...100,201,035
Ensembl chr X:100,185,767...100,201,032
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G |
Pmp22 |
peripheral myelin protein 22 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17275665 |
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NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714
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G |
Pnkp |
polynucleotide kinase 3'-phosphatase |
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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 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
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G |
Pnpt1 |
polyribonucleotide nucleotidyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr14:102,877,553...102,908,696
Ensembl chr14:102,877,553...102,908,696
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G |
Pogz |
pogo transposable element derived with ZNF domain |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:26077850 PMID:27148570 PMID:31782611 |
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NCBI chr 2:182,394,269...182,440,711
Ensembl chr 2:182,380,768...182,440,707
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:1539879 PMID:7847370 PMID:11555352 PMID:12210792 PMID:12297582 PMID:12707443 PMID:12825077 PMID:12975295 PMID:14635118 PMID:15349879 PMID:15689359 PMID:16401742 PMID:16545482 PMID:16621917 PMID:17418573 PMID:18487244 PMID:18546365 PMID:18828154 PMID:19189930 PMID:19251978 PMID:19566497 PMID:19578034 PMID:20385918 PMID:20513108 PMID:21138766 PMID:21880868 PMID:22616202 PMID:23324391 PMID:23448099 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23921535 PMID:24122062 PMID:24265579 PMID:24508722 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25742477 PMID:25940035 PMID:26104464 PMID:26224072 PMID:26337858 PMID:26467025 PMID:26468652 PMID:26742794 PMID:27538604 PMID:28130605 PMID:28154168 PMID:28471437 PMID:28492532 PMID:28812649 PMID:29358615 PMID:29431110 PMID:29474836 PMID:30369941 PMID:30423451 PMID:30487145 PMID:30936349 PMID:31645654 PMID:32019516 PMID:33396418 PMID:33579567 PMID:33956154 PMID:34008892 PMID:34194468 PMID:34927673 PMID:35350396 More...
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NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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G |
Porcn |
porcupine O-acyltransferase |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741874 |
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NCBI chr X:14,285,864...14,298,481
Ensembl chr X:14,285,871...14,298,481
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G |
Ppp2r2b |
protein phosphatase 2, regulatory subunit B, beta |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr18:34,653,716...35,080,889
Ensembl chr18:34,653,721...35,081,025
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G |
Ppp2r5c |
protein phosphatase 2, regulatory subunit B', gamma |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 6:129,461,689...129,598,344
Ensembl chr 6:129,461,648...129,598,346
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G |
Ppp2r5d |
protein phosphatase 2, regulatory subunit B', delta |
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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:28191890 PMID:28492532 PMID:28554332 PMID:29296277 PMID:30676711 PMID:32074998 More...
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NCBI chr 9:14,270,364...14,300,396
Ensembl chr 9:14,268,745...14,300,400
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G |
Ppt1 |
palmitoyl-protein thioesterase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:9664077 PMID:10477428 PMID:11440996 PMID:19302939 PMID:21499717 PMID:21990111 PMID:22387303 PMID:23374165 PMID:25741868 PMID:28492532 PMID:28878621 PMID:31741823 More...
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NCBI chr 5:135,121,164...135,142,048
Ensembl chr 5:135,121,163...135,142,048
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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 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416
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G |
Prps1 |
phosphoribosyl pyrophosphate synthetase 1 |
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ISO |
N113S, D182H |
RGD |
PMID:8253776 |
RGD:1599725 |
NCBI chr X:104,132,139...104,154,191
Ensembl chr X:104,132,141...104,154,187
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G |
Prrt2 |
proline-rich transmembrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 1:181,625,243...181,628,833
Ensembl chr 1:181,604,545...181,628,850
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G |
Psmc3 |
proteasome 26S subunit, ATPase 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 3:77,031,825...77,037,207
Ensembl chr 3:77,031,825...77,043,358
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G |
Psmd12 |
proteasome 26S subunit, non-ATPase 12 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr10:92,438,223...92,457,323
Ensembl chr10:92,438,298...92,457,287
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G |
Pten |
phosphatase and tensin homolog |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Global developmental delay |
CTD ClinVar |
PMID:18759867 PMID:19265751 PMID:19321504 PMID:25741868 PMID:26467025 |
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NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:11992261 PMID:14644997 PMID:15539800 PMID:15723289 PMID:15987685 PMID:16358218 PMID:17020470 PMID:17339163 PMID:17361219 PMID:18372317 PMID:19020799 PMID:19737548 PMID:20308328 PMID:21706501 PMID:21901340 PMID:22315187 PMID:22488759 PMID:23584145 PMID:24033266 PMID:24628801 PMID:25585602 PMID:25595571 PMID:25741868 PMID:26467025 PMID:26918529 PMID:28363362 PMID:28492532 PMID:29907801 PMID:30311386 PMID:30410095 PMID:30417923 PMID:31219622 PMID:31560489 PMID:32164556 PMID:32581362 More...
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NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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G |
Ptpn23 |
protein tyrosine phosphatase, non-receptor type 23 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 PMID:25741868 PMID:28492532 PMID:31395947 |
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NCBI chr 8:110,360,804...110,383,271
Ensembl chr 8:110,360,804...110,383,271
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G |
Pum1 |
pumilio RNA-binding family member 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 5:142,836,933...142,954,331
Ensembl chr 5:142,837,127...142,954,039
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G |
Pura |
purine rich element binding protein A |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25439098 PMID:25741868 PMID:28448108 PMID:28492532 PMID:32860008 PMID:34008892 More...
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NCBI chr18:27,885,071...27,905,509
Ensembl chr18:27,884,556...27,905,513
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G |
Qars1 |
glutaminyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739
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G |
Qrsl1 |
glutaminyl-tRNA amidotransferase subunit QRSL1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr20:47,357,206...47,382,160
Ensembl chr20:47,357,216...47,382,135
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G |
Rab11fip4 |
RAB11 family interacting protein 4 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22241097 |
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NCBI chr10:64,550,109...64,658,123
Ensembl chr10:64,550,177...64,654,759
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G |
Rab3gap2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32870266 |
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NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
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G |
Rab9b |
RAB9B, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr X:100,220,897...100,231,591
Ensembl chr X:100,220,894...100,231,701
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G |
Rac1 |
Rac family small GTPase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:25741888 PMID:28886345 |
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NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251
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G |
Rapsn |
receptor-associated protein of the synapse |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:16931511 PMID:17686188 PMID:25741868 PMID:25741902 PMID:26467025 PMID:28492532 More...
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NCBI chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373
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G |
Rbm8a |
RNA binding motif protein 8A |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22366785 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28857120 |
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NCBI chr 2:184,165,189...184,167,959
Ensembl chr 2:184,165,193...184,167,959
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G |
Rere |
arginine-glutamic acid dipeptide repeats |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 5:160,765,855...161,097,678
Ensembl chr 5:160,765,934...161,097,677
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G |
Rlig1 |
RNA 5'-phosphate and 3'-OH ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:16682973 PMID:16909394 PMID:25741868 PMID:28492532 PMID:29588463 |
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NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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G |
Rlim |
ring finger protein, LIM domain interacting |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25735484 PMID:25741868 |
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NCBI chr X:68,983,259...69,004,368
Ensembl chr X:68,988,375...69,004,271
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G |
Rnaseh2b |
ribonuclease H2, subunit B |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
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G |
Rnf135 |
ring finger protein 135 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22241097 |
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NCBI chr10:65,170,560...65,189,791
Ensembl chr10:65,170,560...65,262,804
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G |
Rps6ka3 |
ribosomal protein S6 kinase A3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr X:35,517,306...35,623,296
Ensembl chr X:35,517,306...35,623,207
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G |
Rps6kc1 |
ribosomal protein S6 kinase C1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr13:102,346,160...102,491,000
Ensembl chr13:102,346,160...102,490,303
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G |
Rtn4ip1 |
reticulon 4 interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33037779 |
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NCBI chr20:47,382,251...47,422,747
Ensembl chr20:47,382,234...47,422,338
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G |
Rubcn |
rubicon autophagy regulator |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr11:67,907,534...67,964,347
Ensembl chr11:67,907,516...67,964,314
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G |
Ryr1 |
ryanodine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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G |
Satb2 |
SATB homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31849593 |
|
NCBI chr 9:58,348,027...58,534,256
Ensembl chr 9:58,350,246...58,530,707
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G |
Scamp5 |
secretory carrier membrane protein 5 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:31439720 PMID:33390987 |
|
NCBI chr 8:57,845,831...57,884,516
Ensembl chr 8:57,846,659...57,872,027
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:12566275 PMID:16199547 PMID:17347258 PMID:18930999 PMID:19563458 PMID:20452746 PMID:20522430 PMID:22071555 PMID:22409937 PMID:22848613 PMID:23895530 PMID:23934111 PMID:24656210 PMID:25401298 PMID:25741868 PMID:28012175 PMID:28148630 PMID:28492532 PMID:28794249 PMID:29190809 PMID:31791873 PMID:32581362 More...
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NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:28492532 PMID:32581362 |
|
NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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G |
Scn3a |
sodium voltage-gated channel alpha subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:25741868 PMID:28235671 PMID:28492532 PMID:29466837 PMID:29740860 PMID:30146301 PMID:30904718 PMID:32515017 PMID:34081427 More...
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NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
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G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25725044 PMID:25741868 PMID:27900360 PMID:28492532 PMID:30109124 PMID:31625145 PMID:32581362 More...
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NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
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G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:19763161 PMID:22604722 PMID:23129781 PMID:25250524 PMID:25741868 PMID:26467025 PMID:27504264 PMID:28492532 PMID:29176367 PMID:30642272 PMID:33216760 More...
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NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
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G |
Set |
Set nuclear proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:11231286 PMID:25356899 PMID:25741868 PMID:27775603 PMID:28135719 PMID:29688601 PMID:34008892 More...
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NCBI chr 3:13,334,564...13,345,598
Ensembl chr 3:13,335,041...13,363,567
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G |
Setd1b |
SET domain containing 1B, histone lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
|
NCBI chr12:33,395,963...33,421,671
Ensembl chr12:33,396,120...33,426,934
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G |
Setd5 |
SET domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894
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G |
Sgsh |
N-sulfoglucosamine sulfohydrolase |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:7493035 PMID:9158154 PMID:9285796 PMID:9401012 PMID:15146460 PMID:18407553 PMID:21061399 PMID:21671382 PMID:22976768 PMID:25741868 PMID:26787381 PMID:27590925 PMID:28492532 PMID:29023963 PMID:31536183 PMID:32581362 More...
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NCBI chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486
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G |
Shank1 |
SH3 and multiple ankyrin repeat domains 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:94,807,879...94,857,356
Ensembl chr 1:94,808,276...94,855,824
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G |
Shank2 |
SH3 and multiple ankyrin repeat domains 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:199,146,210...199,590,962
Ensembl chr 1:199,169,429...199,589,394
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G |
Shank3 |
SH3 and multiple ankyrin repeat domains 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Global developmental delay |
CTD ClinVar |
PMID:16284256 PMID:25741868 PMID:32581362 |
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NCBI chr 7:120,568,707...120,630,796
Ensembl chr 7:120,570,402...120,630,374
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G |
Sik1 |
salt-inducible kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr20:9,949,407...9,959,036
Ensembl chr20:9,947,396...9,958,991
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G |
Sil1 |
SIL1 nucleotide exchange factor |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:32581362 |
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NCBI chr18:26,872,423...27,104,365
Ensembl chr18:26,872,429...27,104,332
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G |
Slc13a5 |
solute carrier family 13 member 5 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 |
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NCBI chr10:56,866,249...56,891,189
Ensembl chr10:56,866,249...56,890,945
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G |
Slc1a3 |
solute carrier family 1 member 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:57,755,495...57,830,605
Ensembl chr 2:57,755,497...57,830,605
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G |
Slc25a22 |
solute carrier family 25 member 22 |
|
ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331
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G |
Slc2a1 |
solute carrier family 2 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9462754 PMID:10980529 PMID:11603379 |
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NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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G |
Slc33a1 |
solute carrier family 33 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Global developmental delay |
CTD ClinVar |
PMID:22243965 PMID:32581362 |
|
NCBI chr 2:148,415,660...148,438,182
Ensembl chr 2:148,415,666...148,437,758
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G |
Slc35f1 |
solute carrier family 35, member F1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:24824130 |
|
NCBI chr20:32,030,350...32,418,762
Ensembl chr20:32,030,368...32,418,611
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G |
Slc4a4 |
solute carrier family 4 member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18614622 |
|
NCBI chr14:18,841,289...19,293,297
Ensembl chr14:18,845,159...19,272,883
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G |
Slc6a1 |
solute carrier family 6 member 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25363768 PMID:25741868 PMID:27824329 PMID:28492532 PMID:30132828 PMID:31332282 PMID:31981491 PMID:32581362 PMID:34028503 PMID:36674476 More...
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NCBI chr 4:147,448,961...147,482,295
Ensembl chr 4:147,466,965...147,482,293
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G |
Slc6a8 |
solute carrier family 6 member 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11326334 |
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NCBI chr X:151,384,675...151,393,979
Ensembl chr X:151,384,675...151,393,979
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G |
Slc9a6 |
solute carrier family 9 member A6 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:32581362 PMID:32860008 |
|
NCBI chr X:134,430,677...134,486,747
Ensembl chr X:134,420,756...134,485,375
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G |
Slitrk6 |
SLIT and NTRK-like family, member 6 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741897 |
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NCBI chr15:87,563,506...87,570,125
Ensembl chr15:87,563,322...87,570,393
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G |
Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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G |
Smarca5 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr19:27,271,918...27,304,594
Ensembl chr19:27,271,148...27,304,594
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G |
Smarcd1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 7:130,829,783...130,840,323
Ensembl chr 7:130,829,768...130,840,323
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G |
Smc1a |
structural maintenance of chromosomes 1A |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr X:21,103,323...21,148,053
Ensembl chr X:21,103,282...21,148,056
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G |
Smg9 |
SMG9 nonsense mediated mRNA decay factor |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:27018474 PMID:33609422 |
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NCBI chr 1:79,988,540...80,011,262
Ensembl chr 1:79,988,612...80,011,254
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G |
Snap25 |
synaptosome associated protein 25 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:33299146 |
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NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
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G |
Snrnp70 |
small nuclear ribonucleoprotein U1 subunit 70 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr 1:95,856,038...95,876,434
Ensembl chr 1:95,856,036...95,876,392
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G |
Son |
SON DNA and RNA binding protein |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25590979 PMID:25741868 PMID:25741875 PMID:27256762 PMID:27545676 PMID:27545680 PMID:28135719 PMID:28492532 PMID:34521999 More...
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NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167
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G |
Sox5 |
SRY-box transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr 4:176,781,375...177,736,833
Ensembl chr 4:176,785,892...177,736,852
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G |
Sptbn4 |
spectrin, beta, non-erythrocytic 4 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr 1:82,650,750...82,738,345
Ensembl chr 1:82,650,751...82,737,228
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G |
Srd5a3 |
steroid 5 alpha-reductase 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:20637498 PMID:20700148 PMID:20852264 PMID:22304929 PMID:24433453 PMID:25326635 PMID:25741868 PMID:27480077 PMID:28492532 PMID:28940310 PMID:31638560 PMID:32581362 More...
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NCBI chr14:32,046,408...32,060,796
Ensembl chr14:32,046,408...32,060,747
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G |
ST7 |
suppression of tumorigenicity 7 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 |
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NCBI chr 4:46,041,655...46,289,745
Ensembl chr 4:46,042,236...46,289,740
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G |
Stag1 |
STAG1 cohesin complex component |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741896 |
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NCBI chr 8:101,179,039...101,564,684
Ensembl chr 8:101,179,039...101,564,677
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G |
Stambp |
Stam binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23542699 |
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NCBI chr 4:116,055,563...116,083,563
Ensembl chr 4:116,056,057...116,080,543
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G |
Stard9 |
StAR-related lipid transfer domain containing 9 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:107,581,097...107,672,746
Ensembl chr 3:107,581,164...107,673,898
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G |
Stxbp1 |
syntaxin binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:20887364 PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26384463 PMID:26865513 PMID:27779742 PMID:28492532 PMID:30185235 PMID:30842647 More...
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|
NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
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G |
Sucla2 |
succinate-CoA ligase ADP-forming subunit beta |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr15:48,752,356...48,805,495
Ensembl chr15:48,752,312...48,805,138
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G |
Suz12 |
SUZ12 polycomb repressive complex 2 subunit |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
|
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NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738
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G |
Syngap1 |
synaptic Ras GTPase activating protein 1 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
|
NCBI chr20:5,026,366...5,056,659
Ensembl chr20:5,026,364...5,056,672
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G |
Taf6 |
TATA-box binding protein associated factor 6 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 |
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NCBI chr12:17,055,864...17,064,244
Ensembl chr12:17,055,873...17,064,247
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G |
Tanc2 |
tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:31616000 |
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NCBI chr10:90,553,124...90,873,477
Ensembl chr10:90,553,002...90,868,756
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G |
Taok1 |
TAO kinase 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:33565190 |
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NCBI chr10:62,373,072...62,465,295
Ensembl chr10:62,381,404...62,465,766
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G |
Tasp1 |
taspase 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:31209944 |
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NCBI chr 3:127,176,416...127,408,039
Ensembl chr 3:127,176,692...127,399,600
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G |
Tbc1d24 |
TBC1 domain family, member 24 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31922275 PMID:32581362 |
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NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
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G |
Tbcd |
tubulin folding cofactor D |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27666370 |
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NCBI chr10:106,717,340...106,874,126
Ensembl chr10:106,717,367...106,874,122
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G |
Tbck |
TBC1 domain containing kinase |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:16199547 PMID:25558065 PMID:25741868 PMID:27040691 PMID:27040692 PMID:28492532 PMID:30103036 More...
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NCBI chr 2:221,175,749...221,348,058
Ensembl chr 2:221,175,785...221,348,126
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G |
Tceal1 |
transcription elongation factor A like 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr X:100,058,485...100,060,439
Ensembl chr X:100,058,132...100,060,551
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G |
Tceal3 |
transcription elongation factor A like 3 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr X:100,010,677...100,012,637
Ensembl chr X:100,010,690...100,012,654
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G |
Tcf12 |
transcription factor 12 |
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ISO |
ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:36937954 |
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NCBI chr 8:72,490,447...72,799,265
Ensembl chr 8:72,492,567...72,799,201
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G |
Tcf20 |
transcription factor 20 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 7:113,953,449...114,104,166
Ensembl chr 7:113,954,089...114,051,839
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G |
Tcf4 |
transcription factor 4 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22678594 PMID:25741868 PMID:25741890 PMID:34128147 PMID:34837432 |
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NCBI chr18:62,941,739...63,288,126
Ensembl chr18:62,943,782...63,284,425
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G |
Tctn1 |
tectonic family member 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 PMID:25741868 PMID:26092869 |
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NCBI chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267
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G |
Tctn3 |
tectonic family member 3 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:239,414,003...239,425,273
Ensembl chr 1:239,415,203...239,425,272
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G |
Tefm |
transcription elongation factor, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:22241097 |
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NCBI chr10:65,119,657...65,124,233
Ensembl chr10:65,119,659...65,124,486
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G |
Tet3 |
tet methylcytosine dioxygenase 3 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193
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G |
Tmco1 |
transmembrane and coiled-coil domains 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 |
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NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555
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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 More...
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NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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G |
Tmem92 |
transmembrane protein 92 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25558065 |
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NCBI chr10:79,749,242...79,760,807
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G |
Tmprss9 |
transmembrane serine protease 9 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 7:8,810,321...8,831,177
Ensembl chr 7:8,810,320...8,831,177
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G |
Tnrc6b |
trinucleotide repeat containing adaptor 6B |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 7:112,252,351...112,469,829
Ensembl chr 7:112,252,359...112,461,790
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G |
Tonsl |
tonsoku-like, DNA repair protein |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:108,345,704...108,360,792
Ensembl chr 7:108,346,047...108,360,750
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G |
Tp53rka |
Tp53 tumor protein p53 regulating kinase A |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32581362 |
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NCBI chr 3:154,219,672...154,224,841
Ensembl chr 3:154,220,851...154,224,328
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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 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199
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G |
Tpp2 |
tripeptidyl peptidase 2 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:33586135 |
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NCBI chr 9:46,046,712...46,128,157
Ensembl chr 9:46,046,632...46,128,157
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G |
Traf7 |
TNF receptor associated factor 7 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr10:13,533,570...13,552,290
Ensembl chr10:13,533,570...13,552,203
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G |
Trh |
thyrotropin releasing hormone |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637
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G |
Trio |
trio Rho guanine nucleotide exchange factor |
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ISO |
ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:36937954 |
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NCBI chr 2:78,505,069...78,801,384
Ensembl chr 2:78,505,070...78,803,135
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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:29539642 PMID:31278393 PMID:32343227 PMID:32439617 PMID:34438093 PMID:35146895 More...
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NCBI chr 1:219,673,200...220,557,610
Ensembl chr 1:219,672,892...220,560,717
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G |
Trrap |
transformation/transcription domain-associated protein |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741898 |
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NCBI chr12:9,738,006...9,827,708
Ensembl chr12:9,738,006...9,827,674
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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 chr13:64,490,216...64,505,591
Ensembl chr13:64,490,218...64,505,617
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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:20301773 PMID:20803644 PMID:20952379 PMID:20956791 PMID:21368912 PMID:21468723 PMID:21609947 PMID:23177318 PMID:23307886 PMID:24033266 PMID:24886362 PMID:25326635 PMID:25741868 PMID:26701950 PMID:27430971 PMID:27570394 PMID:28492532 PMID:29410950 More...
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NCBI chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087
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G |
Tshr |
thyroid stimulating hormone receptor |
|
ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:8964822 PMID:12050212 PMID:25741868 |
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NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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G |
Tuba1a |
tubulin, alpha 1A |
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ISO |
DNA:missense mutation:exon: ClinVar Annotator: match by term: Global developmental delay |
ClinVar RGD |
PMID:18414213 PMID:25131622 PMID:25741868 PMID:30087272 PMID:30517687 PMID:30744660 PMID:31696992 PMID:32581362 PMID:33604570 PMID:22101068 More...
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RGD:12859087 |
NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186
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G |
Tubb4a |
tubulin, beta 4A class IVa |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:18851904 PMID:24526230 PMID:24785942 PMID:24850488 PMID:25741868 PMID:28275661 PMID:28492532 PMID:32581362 More...
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NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291
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G |
Ubap2l |
ubiquitin associated protein 2-like |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:35977029 |
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NCBI chr 2:175,438,703...175,494,085
Ensembl chr 2:175,438,703...175,493,998
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G |
Ube3a |
ubiquitin protein ligase E3A |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 1:110,070,260...110,161,675
Ensembl chr 1:110,070,480...110,157,250
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G |
Ubr7 |
ubiquitin protein ligase E3 component n-recognin 7 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 6:121,898,613...121,918,480
Ensembl chr 6:121,898,623...121,918,477
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G |
Unc80 |
unc-80 homolog, NALCN channel complex subunit |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:68,011,940...68,190,135
Ensembl chr 9:68,011,728...68,187,659
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G |
Usp9x |
ubiquitin specific peptidase 9, X-linked |
|
ISO |
ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:28492532 PMID:36937954 |
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NCBI chr X:9,588,825...9,726,993
Ensembl chr X:9,588,825...9,696,711
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G |
Vcp |
valosin-containing protein |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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G |
Vps13b |
vacuolar protein sorting 13 homolog B |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:15141358 PMID:15173253 PMID:16199547 PMID:16648375 PMID:20461111 PMID:24334764 PMID:25741868 PMID:28492532 PMID:32581362 More...
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NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429
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G |
Vwa8 |
von Willebrand factor A domain containing 8 |
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ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:34660594 PMID:36937954 |
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NCBI chr15:54,252,703...54,576,871
Ensembl chr15:54,252,584...54,576,870
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G |
Wars1 |
tryptophanyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:36937954 |
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NCBI chr 6:127,776,088...127,807,273
Ensembl chr 6:127,776,090...127,807,269
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G |
Wdfy4 |
WDFY family member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30559488 |
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NCBI chr16:8,221,853...8,450,494
Ensembl chr16:8,221,719...8,450,491
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G |
Wdr37 |
WD repeat domain 37 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 |
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NCBI chr17:61,637,258...61,703,677
Ensembl chr17:61,637,258...61,703,677
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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:24368176 PMID:24621584 PMID:25356899 PMID:25741868 PMID:25741886 PMID:25741887 PMID:25744623 PMID:26790960 PMID:27030146 PMID:27652284 PMID:28492532 PMID:28554332 PMID:28932395 PMID:29171013 PMID:29981852 PMID:31487502 PMID:32382396 More...
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NCBI chr X:14,776,280...14,782,202
Ensembl chr X:14,776,293...14,782,202
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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 1:85,491,531...85,530,643
Ensembl chr 1:85,491,533...85,530,637
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G |
Wdr70 |
WD repeat domain 70 |
|
ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 2:56,951,345...57,191,244
Ensembl chr 2:56,951,355...57,191,187
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G |
Wwox |
WW domain-containing oxidoreductase |
|
ISO |
ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:16199547 PMID:24456803 PMID:25411445 PMID:25558065 PMID:25741868 PMID:27717089 PMID:28492532 PMID:29852413 PMID:36937954 More...
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NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
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G |
Yars1 |
tyrosyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:27633801 PMID:33490854 |
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NCBI chr 5:141,535,815...141,564,029
Ensembl chr 5:141,535,759...141,563,833
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G |
Zbtb18 |
zinc finger and BTB domain containing 18 |
|
ISO |
ClinVar Annotator: match by term: Developmental delay |
ClinVar |
PMID:36937954 |
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NCBI chr13:89,439,501...89,447,958
Ensembl chr13:89,439,420...89,448,862
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G |
Zfp142 |
zinc finger protein 142 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
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NCBI chr 9:76,141,053...76,164,784
Ensembl chr 9:76,142,227...76,164,856
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G |
Zmym3 |
zinc finger MYM-type containing 3 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:24721225 |
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NCBI chr X:66,528,585...66,544,234
Ensembl chr X:66,528,585...66,544,782
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G |
Zmynd11 |
zinc finger, MYND-type containing 11 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay |
ClinVar |
PMID:25281490 PMID:25741868 PMID:25741899 PMID:27334371 PMID:28191890 PMID:28492532 PMID:28933030 PMID:35172867 More...
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NCBI chr17:60,542,669...60,631,913
Ensembl chr17:60,543,077...60,631,902
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G |
Colec10 |
collectin subfamily member 10 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 3MC syndrome 3 |
OMIM CTD ClinVar |
PMID:25741868 PMID:28301481 |
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NCBI chr 7:85,744,895...85,806,368
Ensembl chr 7:85,744,895...85,805,675
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G |
Colec11 |
collectin sub-family member 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21258343 |
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NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145
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G |
Masp1 |
MBL associated serine protease 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21258343 |
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NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974
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G |
Afg2b |
AFG2 AAA ATPase homolog B |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,694,739...109,708,356
Ensembl chr 3:109,694,757...109,707,757
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G |
B2m |
beta-2 microglobulin |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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G |
Bloc1s6 |
biogenesis of lysosomal organelles complex 1 subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,816,397...109,826,528
Ensembl chr 3:109,816,366...109,828,308
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G |
C3h15orf48 |
similar to human chromosome 15 open reading frame 48 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,719,952...109,723,505
Ensembl chr 3:109,719,897...109,724,006 Ensembl chr 3:109,719,897...109,724,006
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G |
Duox1 |
dual oxidase 1 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,260,526...109,295,588
Ensembl chr 3:109,262,397...109,295,563
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G |
Duox2 |
dual oxidase 2 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
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G |
Duoxa1 |
dual oxidase maturation factor 1 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,249,815...109,260,511
Ensembl chr 3:109,249,923...109,260,499
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G |
Duoxa2 |
dual oxidase maturation factor 2 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,245,337...109,249,055
Ensembl chr 3:109,245,476...109,248,968
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G |
Gatm |
glycine amidinotransferase |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:10762163 PMID:11555793 PMID:12468279 PMID:16199547 PMID:17576681 PMID:20301745 PMID:20625172 PMID:20682460 PMID:22386973 PMID:23660394 PMID:23770102 PMID:24415674 PMID:25741868 PMID:26003046 PMID:26467025 PMID:26490222 PMID:27233232 PMID:27577545 PMID:28492532 PMID:29654216 More...
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NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129
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G |
Patl2 |
PAT1 homolog 2 |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,072,958...109,087,425
Ensembl chr 3:109,075,290...109,083,253
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G |
Shf |
Src homology 2 domain containing F |
|
ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,296,517...109,316,315
Ensembl chr 3:109,296,784...109,316,328
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Slc28a2 |
solute carrier family 28 member 2 |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,324,815...109,387,702
Ensembl chr 3:109,366,996...109,387,702
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Slc30a4 |
solute carrier family 30 member 4 |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,753,270...109,775,306
Ensembl chr 3:109,753,273...109,775,306
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Sord |
sorbitol dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,184,697...109,216,133
Ensembl chr 3:109,184,676...109,216,133
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Spg11 |
SPG11 vesicle trafficking associated, spatacsin |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911
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Terb2 |
telomere repeat binding bouquet formation protein 2 |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,138,343...109,156,700
Ensembl chr 3:109,138,343...109,156,683
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Trim69 |
tripartite motif-containing 69 |
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ISO |
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,111,468...109,135,255
Ensembl chr 3:109,111,468...109,132,037
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Adh5 |
alcohol dehydrogenase 5 (class III), chi polypeptide |
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ISO |
ClinVar Annotator: match by term: AMED syndrome, digenic |
OMIM ClinVar |
PMID:25741868 PMID:33355142 |
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NCBI chr 2:226,975,184...226,987,591
Ensembl chr 2:226,947,466...226,987,591
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Aldh2 |
aldehyde dehydrogenase 2 family member |
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ISO |
ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 7, DIGENIC |
ClinVar |
PMID:2987944 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 PMID:8903321 PMID:10627091 PMID:10780266 PMID:15654505 PMID:15902904 PMID:16046871 PMID:16440063 PMID:16679777 PMID:17885622 PMID:18056758 PMID:20010786 PMID:22992668 PMID:33355142 More...
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NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
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Kat6a |
lysine acetyltransferase 6A |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | ClinVar Annotator: match by term: KAT6A syndrome | ClinVar Annotator: match by term: KAT6A-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:17374998 PMID:23431171 PMID:25728775 PMID:25728777 PMID:25741868 PMID:26938784 PMID:27133397 PMID:28492532 PMID:30245513 PMID:31292255 PMID:32041641 PMID:33318932 PMID:34748993 PMID:35892268 More...
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NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606
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Ppp3ca |
protein phosphatase 3 catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | ClinVar Annotator: match by term: PPP3CA-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29432562 PMID:30904718 |
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NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
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Asxl3 |
ASXL transcriptional regulator 3 |
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ISO |
ClinVar Annotator: match by term: Bainbridge-Ropers syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:23383720 PMID:25326635 PMID:25590979 PMID:25741868 PMID:26539891 PMID:26640146 PMID:26647312 PMID:27075689 PMID:27901041 PMID:28100473 PMID:28492532 PMID:29305346 PMID:29367179 PMID:29628764 PMID:30564305 PMID:31180560 PMID:31785789 PMID:32581362 PMID:32860008 PMID:33004838 More...
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NCBI chr18:13,593,529...13,766,324
Ensembl chr18:13,593,985...13,762,427
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Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome |
ClinVar |
PMID:15241795 PMID:16571647 PMID:16905551 PMID:17701892 PMID:18435798 PMID:19293843 PMID:19349279 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Thoc6 |
THO complex subunit 6 |
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ISO |
ClinVar Annotator: match by term: Beaulieu-Boycott-Innes syndrome | ClinVar Annotator: match by term: Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations | ClinVar Annotator: match by term: THOC6-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:16199547 PMID:18414213 PMID:23621916 PMID:25741868 PMID:26739162 PMID:27102954 PMID:27295358 PMID:28492532 PMID:30238602 PMID:30476144 PMID:31421288 PMID:32790266 More...
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NCBI chr10:12,700,051...12,705,411
Ensembl chr10:12,700,051...12,706,925
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Tet3 |
tet methylcytosine dioxygenase 3 |
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ISO |
ClinVar Annotator: match by term: Beck-Fahrner syndrome | ClinVar Annotator: match by term: TET3 deficiency | ClinVar Annotator: match by term: TET3-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30167849 PMID:31928709 |
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NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193
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Arb2a |
ARB2 cotranscriptional regulator A |
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ISO |
ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome |
ClinVar |
PMID:24462372 |
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NCBI chr 2:7,553,873...8,018,183
Ensembl chr 2:7,553,891...8,018,162
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G |
Kiaa0825 |
KIAA0825 homolog |
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ISO |
ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome |
ClinVar |
PMID:24462372 |
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NCBI chr 2:6,874,474...7,437,032
Ensembl chr 2:6,874,539...7,434,521
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Nr2f1 |
nuclear receptor subfamily 2, group F, member 1 |
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ISO ISS |
ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome OMIM:615722 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:18414213 PMID:24462372 PMID:25326637 PMID:25741868 PMID:25741869 PMID:25741879 PMID:26138355 PMID:26350515 PMID:26986877 PMID:28492532 PMID:28963436 PMID:29410510 PMID:30755392 PMID:31393201 PMID:31729143 PMID:32275123 PMID:32407885 PMID:32712214 PMID:34466801 More...
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NCBI chr 2:8,040,375...8,050,123
Ensembl chr 2:8,040,377...8,050,123
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Pou5f2 |
POU domain class 5, transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome |
ClinVar |
PMID:24462372 |
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NCBI chr 2:7,907,504...7,908,738
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Rps23 |
ribosomal protein S23 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brachycephaly, trichomegaly, and developmental delay |
OMIM CTD ClinVar |
PMID:25741868 PMID:28257692 |
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NCBI chr 2:22,079,339...22,080,909
Ensembl chr 2:22,079,302...22,080,918
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Cacna2d2 |
calcium voltage-gated channel auxiliary subunit alpha2delta 2 |
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ISO |
ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:18487195 PMID:23339110 PMID:24358150 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29997391 PMID:30410802 PMID:31402629 More...
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NCBI chr 8:108,072,208...108,203,516
Ensembl chr 8:108,072,454...108,203,173
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Cyb561d2 |
cytochrome b561 family, member D2 |
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ISO |
ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay |
ClinVar |
PMID:18487195 PMID:23339110 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29997391 PMID:30410802 More...
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NCBI chr 8:108,213,201...108,215,778
Ensembl chr 8:108,213,205...108,215,759
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Heatr5b |
HEAT repeat containing 5B |
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ISO |
ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay |
ClinVar |
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NCBI chr 6:16,243,424...16,323,444
Ensembl chr 6:16,243,461...16,323,435
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Kcnma1 |
potassium calcium-activated channel subfamily M alpha 1 |
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ISO |
ClinVar Annotator: match by term: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | ClinVar Annotator: match by term: Cerebellar atrophy, developmental delay, and seizures |
ClinVar OMIM |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:27567911 PMID:28492532 PMID:29545233 More...
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NCBI chr15:302,480...1,007,675
Ensembl chr15:302,214...1,001,198
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Prdm13 |
PR/SET domain 13 |
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ISO |
ClinVar Annotator: match by term: Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: PRDM13-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:34730112 |
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NCBI chr 5:35,220,815...35,232,866
Ensembl chr 5:35,225,435...35,232,881
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Oxr1 |
oxidation resistance 1 |
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ISO |
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OMIM |
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NCBI chr 7:72,528,750...72,965,666
Ensembl chr 7:72,528,786...72,965,666
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Ahdc1 |
AT hook, DNA binding motif, containing 1 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:31474318 |
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NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145
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G |
Arid1a |
AT-rich interaction domain 1A |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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G |
Arid1b |
AT-rich interaction domain 1B |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 |
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NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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Atad3a |
ATPase family, AAA domain containing 3A |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 PMID:31727539 |
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NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
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Auts2 |
activator of transcription and developmental regulator AUTS2 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:31474318 |
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NCBI chr12:24,104,187...25,194,123
Ensembl chr12:24,104,192...25,194,416
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G |
Bcl11a |
BCL11 transcription factor A |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:31474318 |
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NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180
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Bcor |
BCL6 co-repressor |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 |
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NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613
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Cask |
calcium/calmodulin dependent serine protein kinase |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:21735175 PMID:25326635 PMID:25741868 PMID:25886057 PMID:31474318 PMID:32581362 More...
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NCBI chr X:8,899,500...9,243,014
Ensembl chr X:8,899,833...9,238,694
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Ddx3x |
DEAD-box helicase 3, X-linked |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 PMID:26235985 PMID:28135719 PMID:28492532 PMID:31474318 |
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NCBI chr X:9,479,532...9,493,169
Ensembl chr X:9,479,532...9,493,168
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Dkc1 |
dyskerin pseudouridine synthase 1 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:21931702 PMID:25741868 PMID:31474318 |
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Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:31474318 |
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NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Flg |
filaggrin |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 |
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NCBI chr 2:178,884,793...178,912,986
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Foxp1 |
forkhead box P1 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31474318 |
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NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
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Fzd3 |
frizzled class receptor 3 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:31474318 |
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NCBI chr15:39,421,366...39,488,369
Ensembl chr15:39,421,355...39,488,369
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G |
Kctd3 |
potassium channel tetramerization domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25558065 |
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NCBI chr13:100,510,193...100,548,765
Ensembl chr13:100,510,195...100,548,718
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Kiaa0586 |
KIAA0586 homolog |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:20301500 PMID:24033266 PMID:25741868 PMID:26026149 PMID:26096313 PMID:26166481 PMID:26386044 PMID:26386247 PMID:26437029 PMID:28125082 PMID:28492532 PMID:29068549 PMID:30120217 PMID:32381069 PMID:32581362 More...
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NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
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Kif4a |
kinesin family member 4A |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:31474318 |
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NCBI chr X:65,721,746...65,824,277
Ensembl chr X:65,721,779...65,824,139
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L1cam |
L1 cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:7562969 PMID:8929944 PMID:16650080 PMID:25741868 PMID:31474318 |
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NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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G |
Macf1 |
microtubule-actin crosslinking factor 1 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:31474318 |
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NCBI chr 5:135,623,734...135,949,097
Ensembl chr 5:135,623,742...135,945,905
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G |
Ophn1 |
oligophrenin 1 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 PMID:31474318 |
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NCBI chr X:63,599,746...63,976,678
Ensembl chr X:63,603,042...63,976,633
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G |
Oxr1 |
oxidation resistance 1 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 PMID:31785787 |
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NCBI chr 7:72,528,750...72,965,666
Ensembl chr 7:72,528,786...72,965,666
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Pla2g6 |
phospholipase A2 group VI |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:16783378 PMID:32581362 |
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NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
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Pmm2 |
phosphomannomutase 2 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 PMID:10571956 PMID:10602363 PMID:10700701 PMID:10854097 PMID:10922383 PMID:11058895 PMID:11134235 PMID:11156536 PMID:11409861 PMID:11517108 PMID:11530212 PMID:11589167 PMID:11916319 PMID:12244009 PMID:15844218 PMID:16376131 PMID:16540464 PMID:16825284 PMID:17166182 PMID:17451957 PMID:18948042 PMID:19357119 PMID:20301289 PMID:21228398 PMID:21541725 PMID:22975760 PMID:24033266 PMID:25333069 PMID:25355454 PMID:25741868 PMID:26014514 PMID:26488408 PMID:28373276 PMID:28492532 PMID:28940310 PMID:30740725 PMID:31474318 PMID:32581362 PMID:32860008 More...
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NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098
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Rars2 |
arginyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:2706168 PMID:25533962 PMID:25741868 PMID:27061686 PMID:28492532 PMID:29881806 PMID:31429931 PMID:31474318 More...
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NCBI chr 5:49,181,517...49,238,664
Ensembl chr 5:49,181,565...49,233,276
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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 9:950,939...967,905
Ensembl chr 9:950,939...961,521
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G |
Sepsecs |
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 |
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NCBI chr14:58,311,484...58,341,745
Ensembl chr14:58,311,499...58,341,740
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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:28492532 PMID:29276005 PMID:31474318 PMID:32710489 |
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NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489
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G |
Sptan1 |
spectrin, alpha, non-erythrocytic 1 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 PMID:29050398 PMID:31474318 PMID:32963807 |
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NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
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G |
Stxbp1 |
syntaxin binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:21193638 PMID:23934111 PMID:25326390 PMID:25533962 PMID:25741868 PMID:26865513 PMID:28492532 PMID:29186148 PMID:29761117 PMID:30174244 PMID:30266908 PMID:30540253 PMID:31221716 PMID:31474318 PMID:32112430 More...
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NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
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G |
Tmlhe |
trimethyllysine hydroxylase, epsilon |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:31474318 |
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NCBI chr20:91,234...138,942
Ensembl chr20:91,272...140,386
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G |
Tsen54 |
tRNA splicing endonuclease subunit 54 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 PMID:20803644 PMID:20952379 PMID:20956791 PMID:21368912 PMID:21468723 PMID:21609947 PMID:23177318 PMID:23307886 PMID:24033266 PMID:24886362 PMID:25326635 PMID:25741868 PMID:26701950 PMID:27430971 PMID:27570394 PMID:28492532 PMID:29410950 More...
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NCBI chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087
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Tuba1a |
tubulin, alpha 1A |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:31474318 |
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NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186
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Tubb2a |
tubulin, beta 2A class IIa |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:24702957 PMID:25741868 PMID:31474318 |
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NCBI chr17:30,796,842...30,800,713
Ensembl chr17:30,747,503...30,800,714
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Vldlr |
very low density lipoprotein receptor |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
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Wdr37 |
WD repeat domain 37 |
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ISO |
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia |
ClinVar |
PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 PMID:31780822 |
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NCBI chr17:61,637,258...61,703,677
Ensembl chr17:61,637,258...61,703,677
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Brf1 |
BRF1, RNA polymerase III transcription initiation factor subunit |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome |
OMIM CTD ClinVar |
PMID:25561519 PMID:25741868 PMID:27748960 PMID:28492532 |
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NCBI chr 6:132,034,378...132,081,313
Ensembl chr 6:132,037,272...132,081,278
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Acod1 |
aconitate decarboxylase 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:79,871,819...79,881,101
Ensembl chr15:79,871,827...79,880,529
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Alg11 |
ALG11, alpha-1,2-mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601
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Arl11 |
ADP-ribosylation factor like GTPase 11 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:35,483,330...35,485,579
Ensembl chr15:35,480,018...35,496,596
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Atp7b |
ATPase copper transporting beta |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
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Bora |
bora, aurora kinase A activator |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:75,797,624...75,835,599
Ensembl chr15:75,797,891...75,821,322
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C15h13orf42 |
similar to human chromosome 13 open reading frame 42 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,674,840...36,701,304
Ensembl chr15:36,677,527...36,701,211
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Cab39l |
calcium binding protein 39-like |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:33,606,588...33,710,518
Ensembl chr15:33,606,694...33,743,545
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Ccdc70 |
coiled-coil domain containing 70 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:70,037,309...70,042,401
Ensembl chr16:70,037,309...70,042,339
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Cdadc1 |
cytidine and dCMP deaminase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:33,726,590...33,755,611
Ensembl chr15:33,723,435...33,755,576
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Ckap2 |
cytoskeleton associated protein 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,839,668...69,864,852
Ensembl chr16:69,839,630...69,864,913
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Cln5 |
CLN5, intracellular trafficking protein |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:79,893,573...79,903,438
Ensembl chr15:79,893,548...79,903,438
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Cnmd |
chondromodulin |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:55,041,548...55,066,297
Ensembl chr15:55,041,561...55,066,297
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Commd6 |
COMM domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:78,467,333...78,474,382
Ensembl chr15:78,467,804...78,474,382
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Cysltr2 |
cysteinyl leukotriene receptor 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136
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Dach1 |
dachshund family transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:74,528,122...74,909,811
Ensembl chr15:74,529,208...74,909,922
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Diaph3 |
diaphanous-related formin 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:62,543,375...63,013,060
Ensembl chr15:62,543,375...63,012,975
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Dis3 |
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642
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Dleu7 |
deleted in lymphocytic leukemia, 7 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,479,533...36,495,730
Ensembl chr15:36,479,534...36,495,697
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Ebpl |
EBP like |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:35,508,074...35,531,472
Ensembl chr15:35,508,074...35,531,472
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Ednrb |
endothelin receptor type B |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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Fam124a |
family with sequence similarity 124 member A |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,799,836...36,855,062
Ensembl chr15:36,799,877...36,853,683
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Fbxl3 |
F-box and leucine-rich repeat protein 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:79,906,795...79,926,678
Ensembl chr15:79,906,795...79,927,867
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Fndc3a |
fibronectin type III domain containing 3a |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:47,689,909...47,867,354
Ensembl chr15:47,689,919...47,866,784
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Ints6 |
integrator complex subunit 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,908,966...37,048,043
Ensembl chr15:36,933,724...37,021,527
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Itm2b |
integral membrane protein 2B |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
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Kcnrg |
potassium channel regulator |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:35,774,456...35,779,409
Ensembl chr15:35,774,326...35,779,415
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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 chr15:79,800,078...79,806,017
Ensembl chr15:79,801,191...79,806,282
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Klf12 |
KLF transcription factor 12 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:76,628,778...77,062,000
Ensembl chr15:76,637,654...77,062,056
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Klf5 |
KLF transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445
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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 chr15:72,698,191...73,142,726
Ensembl chr15:72,699,094...73,142,594
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Kpna3 |
karyopherin subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:35,536,310...35,610,066
Ensembl chr15:35,536,316...35,610,419
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Lmo7 |
LIM domain 7 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:78,566,999...78,769,833
Ensembl chr15:78,567,023...78,769,783
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Lpar6 |
lysophosphatidic acid receptor 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331
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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 chr15:48,696,542...48,706,818
Ensembl chr15:48,696,511...48,706,820
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Mycbp2 |
MYC binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:79,937,354...80,175,432
Ensembl chr15:79,937,354...80,175,498
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Mzt1 |
mitotic spindle organizing protein 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:75,787,281...75,797,589
Ensembl chr15:75,786,994...75,797,589
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Ndfip2 |
Nedd4 family interacting protein 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:82,032,366...82,087,043
Ensembl chr15:82,032,366...82,086,317
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Nek3 |
NIMA-related kinase 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,867,020...69,892,477
Ensembl chr16:69,867,047...69,892,508
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Nek5 |
NIMA-related kinase 5 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,895,414...69,938,668
Ensembl chr16:69,895,422...69,939,429
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Nudt15 |
nudix hydrolase 15 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,707,776...48,713,847
Ensembl chr15:48,709,700...48,747,363
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Obi1 |
ORC ubiquitin ligase 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:81,269,413...81,308,734
Ensembl chr15:81,269,416...81,308,734
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Olfm4 |
olfactomedin 4 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:55,385,100...55,429,687
Ensembl chr15:55,407,148...55,429,681
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Pcdh17 |
protocadherin 17 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:60,222,088...60,316,172
Ensembl chr15:60,222,004...60,313,999
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Pcdh20 |
protocadherin 20 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:64,425,534...64,431,790
Ensembl chr15:64,425,534...64,431,790
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Pcdh8 |
protocadherin 8 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:55,198,470...55,203,039
Ensembl chr15:55,198,459...55,205,872
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Pcdh9 |
protocadherin 9 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:69,340,108...70,237,531
Ensembl chr15:69,340,645...70,237,538
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Phf11 |
PHD finger protein 11 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:33,390,290...33,414,647
Ensembl chr15:33,390,292...33,413,009
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Pibf1 |
progesterone immunomodulatory binding factor 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712
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Pou4f1 |
POU class 4 homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:81,253,714...81,260,057
Ensembl chr15:81,257,781...81,259,728
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Prr20e |
proline rich 20E |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr 4:121,566,632...121,574,734
Ensembl chr 4:121,571,797...121,573,140
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Rb1 |
RB transcriptional corepressor 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Rbm26 |
RNA binding motif protein 26 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:81,884,783...81,964,245
Ensembl chr15:81,887,219...81,964,118
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Rcbtb1 |
RCC1 and BTB domain containing protein 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:33,319,586...33,362,421
Ensembl chr15:33,319,586...33,365,302
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Rcbtb2 |
RCC1 and BTB domain containing protein 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,319,809...48,364,441
Ensembl chr15:48,323,866...48,383,750
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Rnaseh2b |
ribonuclease H2, subunit B |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
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Scel |
sciellin |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:80,339,661...80,456,546
Ensembl chr15:80,339,951...80,456,372
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Serpine3 |
serpin family E member 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,908,816...36,931,825
Ensembl chr15:36,907,131...36,933,150
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Setdb2 |
SET domain bifurcated histone lysine methyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:33,553,657...33,606,586
Ensembl chr15:33,453,952...33,606,470
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Slain1 |
SLAIN motif family, member 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:80,482,818...80,542,461
Ensembl chr15:80,482,367...80,542,350
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Slitrk1 |
SLIT and NTRK-like family, member 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:85,723,252...85,727,290
Ensembl chr15:85,724,475...85,727,509
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Slitrk6 |
SLIT and NTRK-like family, member 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:87,563,506...87,570,125
Ensembl chr15:87,563,322...87,570,393
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Spry2 |
sprouty RTK signaling antagonist 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:82,692,291...82,697,408
Ensembl chr15:82,692,143...82,698,009
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Spryd7 |
SPRY domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:35,707,185...35,727,704
Ensembl chr15:35,707,060...35,727,509
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Sucla2 |
succinate-CoA ligase ADP-forming subunit beta |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,752,356...48,805,495
Ensembl chr15:48,752,312...48,805,138
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Sugt1 |
SGT1 homolog, MIS12 kinetochore complex assembly cochaperone |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:54,991,419...55,032,244
Ensembl chr15:54,990,672...55,069,150
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Tbc1d4 |
TBC1 domain family, member 4 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:78,256,030...78,434,168
Ensembl chr15:78,257,121...78,434,265
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Tdrd3 |
tudor domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:63,340,531...63,497,208
Ensembl chr15:63,341,235...63,476,110
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Thsd1 |
thrombospondin type 1 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504
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Trim13 |
tripartite motif-containing 13 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:35,733,548...35,772,676
Ensembl chr15:35,734,107...35,772,677
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Uchl3 |
ubiquitin C-terminal hydrolase L3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:78,485,304...78,527,355
Ensembl chr15:78,485,315...78,527,355 Ensembl chr 3:78,485,315...78,527,355
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Vps36 |
vacuolar protein sorting 36 homolog |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,810,404...69,834,789
Ensembl chr16:69,808,193...69,834,810
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G |
Wdfy2 |
WD repeat and FYVE domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:37,083,842...37,209,559
Ensembl chr15:37,042,987...37,209,304
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G |
Abr |
ABR activator of RhoGEF and GTPase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome |
ClinVar |
PMID:21681106 |
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NCBI chr10:61,262,516...61,461,331
Ensembl chr10:61,262,516...61,461,505
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G |
Bhlha9 |
basic helix-loop-helix family, member a9 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome |
ClinVar |
PMID:21681106 |
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NCBI chr10:61,513,609...61,514,730
Ensembl chr10:61,513,609...61,514,301
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G |
Crk |
CRK proto-oncogene, adaptor protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome |
ClinVar |
PMID:21681106 |
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NCBI chr10:60,530,469...60,556,703
Ensembl chr10:60,530,464...60,553,406
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G |
Trarg1 |
trafficking regulator of GLUT4 (SLC2A4) 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome |
ClinVar |
PMID:21681106 |
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NCBI chr10:61,521,107...61,541,494
Ensembl chr10:61,521,107...61,541,494
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G |
Ywhae |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome |
ClinVar |
PMID:21681106 |
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NCBI chr10:60,584,665...60,622,352
Ensembl chr10:60,584,652...60,671,589
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G |
Cep19 |
centrosomal protein 19 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,677,869...68,687,117
Ensembl chr11:68,677,871...68,687,022
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G |
Dlg1 |
discs large MAGUK scaffold protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,911,883...69,103,230
Ensembl chr11:68,911,883...69,102,689
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G |
Dynlt2b |
dynein light chain Tctex-type 2B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,359,138...68,367,573
Ensembl chr11:68,358,263...68,367,499
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G |
Fbxo45 |
F-box protein 45 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,551,430...68,567,053
Ensembl chr11:68,551,122...68,566,800
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G |
Meltf |
melanotransferrin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,884,446...68,906,300
Ensembl chr11:68,884,446...68,906,300
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G |
Ncbp2 |
nuclear cap binding protein subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,821,026...68,829,863
Ensembl chr11:68,817,740...68,851,885
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G |
Ncbp2as2 |
NCBP2 antisense 2 (head to head) |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,829,950...68,830,715
Ensembl chr11:68,829,983...68,830,708
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G |
Nrros |
negative regulator of reactive oxygen species |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,628,641...68,646,152
Ensembl chr11:68,628,712...68,646,142
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G |
Pak2 |
p21 (RAC1) activated kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,707,940...68,768,816
Ensembl chr11:68,707,969...68,768,816
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G |
Pcyt1a |
phosphate cytidylyltransferase 1A, choline |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,313,860...68,357,828
Ensembl chr11:68,313,882...68,357,357
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G |
Pigx |
phosphatidylinositol glycan anchor biosynthesis, class X |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,687,126...68,703,067
Ensembl chr11:68,687,093...68,703,472
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G |
Pigz |
phosphatidylinositol glycan anchor biosynthesis, class Z |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,831,847...68,851,798
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G |
Rnf168 |
ring finger protein 168 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,486,313...68,508,296
Ensembl chr11:68,486,321...68,508,277
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G |
Senp5 |
SUMO specific peptidase 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,784,699...68,819,569
Ensembl chr11:68,784,957...68,819,562
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G |
Slc51a |
solute carrier family 51 member A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,299,086...68,313,485
Ensembl chr11:68,299,086...68,313,485
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G |
Smco1 |
single-pass membrane protein with coiled-coil domains 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,512,113...68,514,999
Ensembl chr11:68,509,150...68,515,003
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G |
Tfrc |
transferrin receptor |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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G |
Tm4sf19 |
transmembrane 4 L six family member 19 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,372,945...68,386,192
Ensembl chr11:68,371,647...68,384,591
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G |
Tnk2 |
tyrosine kinase, non-receptor, 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,114,725...68,154,254
Ensembl chr11:68,114,726...68,154,009
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G |
Ubxn7 |
UBX domain protein 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,427,896...68,460,100
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G |
Wdr53 |
WD repeat domain 53 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,542,647...68,551,148
Ensembl chr11:68,542,650...68,551,112
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G |
Zdhhc19 |
zinc finger DHHC-type palmitoyltransferase 19 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 3q29 microdeletion syndrome |
ClinVar |
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NCBI chr11:68,277,847...68,289,110
Ensembl chr11:68,277,848...68,288,954
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G |
Lrrc32 |
leucine rich repeat containing 32 |
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ISO |
ClinVar Annotator: match by term: Cleft palate, proliferative retinopathy, and developmental delay |
OMIM ClinVar |
PMID:25741868 PMID:30976112 |
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NCBI chr 1:152,785,709...152,802,997
Ensembl chr 1:152,786,511...152,798,373
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G |
Ankrd46 |
ankyrin repeat domain 46 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,647,202...67,668,180
Ensembl chr 7:67,647,204...67,668,132
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G |
Atp6v1c1 |
ATPase H+ transporting V1 subunit C1 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,834,464...69,872,278
Ensembl chr 7:69,834,463...69,872,278
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G |
Azin1 |
antizyme inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,654,773...69,681,578
Ensembl chr 7:69,654,663...69,681,578
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G |
Baalc |
BAALC binder of MAP3K1 and KLF4 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,918,998...69,992,289
Ensembl chr 7:69,918,998...69,992,288
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G |
Cox6c |
cytochrome c oxidase subunit 6C |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,129,265...67,142,001
Ensembl chr 7:67,111,024...67,141,963
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G |
Cthrc1 |
collagen triple helix repeat containing 1 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,122,474...70,132,756
Ensembl chr 7:70,122,474...70,132,756
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G |
Dcaf13 |
DDB1 and CUL4 associated factor 13 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,160,983...70,196,142
Ensembl chr 7:70,160,941...70,196,142
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G |
Dcstamp |
dendrocyte expressed seven transmembrane protein |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,807,455...70,822,067
Ensembl chr 7:70,807,581...70,822,078
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G |
Dpys |
dihydropyrimidinase |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,822,648...70,929,255
Ensembl chr 7:70,835,789...70,929,231
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G |
Fbxo43 |
F-box protein 43 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,333,161...67,346,751
Ensembl chr 7:67,333,162...67,346,751
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G |
Fzd6 |
frizzled class receptor 6 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,055,012...70,086,781
Ensembl chr 7:70,055,068...70,086,776
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G |
Grhl2 |
grainyhead-like transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:68,400,287...68,530,269
Ensembl chr 7:68,400,477...68,530,258
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G |
Kcns2 |
potassium voltage-gated channel, modifier subfamily S, member 2 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:66,022,352...66,028,422
Ensembl chr 7:66,022,352...66,028,422
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G |
Klf10 |
KLF transcription factor 10 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,467,658...69,473,726
Ensembl chr 7:69,465,619...69,473,994
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G |
Lrp12 |
LDL receptor related protein 12 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,941,068...71,012,409
Ensembl chr 7:70,941,068...71,012,441
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G |
Mir875 |
microRNA 875 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 |
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NCBI chr 7:66,861,955...66,862,027
Ensembl chr 7:66,861,955...66,862,027
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G |
Myo7a |
myosin VIIA |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
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G |
Ncald |
neurocalcin delta |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:68,532,671...68,964,740
Ensembl chr 7:68,534,421...68,964,496
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G |
Nipal2 |
NIPA-like domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:65,774,477...65,884,807
Ensembl chr 7:65,774,477...65,884,807
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G |
Odf1 |
outer dense fiber of sperm tails 1 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,377,427...69,389,662
Ensembl chr 7:69,380,116...69,389,664
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G |
Osr2 |
odd-skipped related transciption factor 2 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:66,487,841...66,495,003
Ensembl chr 7:66,487,839...66,495,224
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G |
Pabpc1 |
poly(A) binding protein, cytoplasmic 1 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,777,438...67,789,731
Ensembl chr 7:67,777,381...67,789,744
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G |
Polr2k |
RNA polymerase II, I and III subunit K |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,347,118...67,359,466
Ensembl chr 7:67,356,113...67,357,668
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G |
Pop1 |
POP1 homolog, ribonuclease P/MRP subunit |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:65,705,348...65,733,143
Ensembl chr 7:65,705,368...65,733,141
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G |
Rgs22 |
regulator of G-protein signaling 22 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,188,531...67,308,805
Ensembl chr 7:67,188,519...67,308,875
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G |
Rims2 |
regulating synaptic membrane exocytosis 2 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,248,104...70,759,134
Ensembl chr 7:70,243,872...70,757,491
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G |
Rnf19a |
ring finger protein 19A, RBR E3 ubiquitin protein ligase |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,425,833...67,465,214
Ensembl chr 7:67,425,837...67,465,222
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G |
Rrm2b |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
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G |
Slc25a32 |
solute carrier family 25 member 32 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,142,958...70,160,726
Ensembl chr 7:70,142,964...70,160,770
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G |
Snx31 |
sorting nexin 31 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,676,514...67,776,925
Ensembl chr 7:67,676,524...67,732,086
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G |
Spag1 |
sperm associated antigen 1 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368
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G |
Stk3 |
serine/threonine kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:66,053,209...66,323,292
Ensembl chr 7:66,052,345...66,323,233
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G |
Ubr5 |
ubiquitin protein ligase E3 component n-recognin 5 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,115,216...69,224,843
Ensembl chr 7:69,116,761...69,224,903
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G |
Vps13b |
vacuolar protein sorting 13 homolog B |
|
ISO ISS |
ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: VPS13B-related condition OMIM:216550 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 PMID:15173253 PMID:15211651 PMID:15498460 PMID:15691367 PMID:15918062 PMID:16199547 PMID:16648375 PMID:16917849 PMID:17383910 PMID:17576681 PMID:17786118 PMID:17990063 PMID:18414213 PMID:18655112 PMID:19006247 PMID:19190672 PMID:19533689 PMID:19763152 PMID:20307669 PMID:20461111 PMID:20656880 PMID:20683995 PMID:20921020 PMID:21330571 PMID:21659346 PMID:21865173 PMID:22382802 PMID:22406018 PMID:22527104 PMID:22700954 PMID:22855652 PMID:23033978 PMID:23188044 PMID:23352163 PMID:23757202 PMID:24033266 PMID:24311531 PMID:24334746 PMID:24334764 PMID:25060287 PMID:25326635 PMID:25356970 PMID:25472526 PMID:25502226 PMID:25525159 PMID:25533962 PMID:25640679 PMID:25741868 PMID:26104215 PMID:26133662 PMID:26395554 PMID:26443248 PMID:26467025 PMID:26539891 PMID:26938784 PMID:27175599 PMID:27353947 PMID:27380831 PMID:27533158 PMID:27829003 PMID:28041643 PMID:28057753 PMID:28341476 PMID:28492532 PMID:28559085 PMID:28631888 PMID:28832562 PMID:29149870 PMID:29431110 PMID:29453417 PMID:29634382 PMID:29706646 PMID:29758347 PMID:30138938 PMID:30290665 PMID:30792901 PMID:30843084 PMID:31580008 PMID:31736247 PMID:31943017 PMID:31965297 PMID:32170714 PMID:32384097 PMID:32483926 PMID:32505691 PMID:32581362 PMID:32860008 PMID:32919079 PMID:32959227 PMID:33023636 PMID:33025479 PMID:33217554 PMID:34353225 PMID:34425733 More...
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NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429
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G |
Ywhaz |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,941,353...67,963,651
Ensembl chr 7:67,940,017...67,963,668
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G |
Zfp706 |
zinc finger protein 706 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:68,167,496...68,174,121
Ensembl chr 7:68,166,323...68,174,148
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G |
Zfpm2 |
zinc finger protein, multitype 2 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
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G |
Cdk13 |
cyclin-dependent kinase 13 |
|
ISO ISS |
ClinVar Annotator: match by term: CDK13-Related Disorder | ClinVar Annotator: match by term: CDK13-related condition | ClinVar Annotator: match by term: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder OMIM:617360 CTD Direct Evidence: marker/mechanism DNA:Mutations:cds : DNA:mutations:cds: DNA:mutations: : |
OMIM ClinVar MouseDO CTD RGD |
PMID:15632290 PMID:22512864 PMID:25741868 PMID:25741869 PMID:27479907 PMID:28135719 PMID:28492532 PMID:28554332 PMID:28807008 PMID:29021403 PMID:29222009 PMID:29393965 PMID:30525188 PMID:30702837 PMID:30904094 PMID:31238879 PMID:31607746 PMID:33004838 PMID:28807008 PMID:29021403 PMID:29393965 PMID:27479907 More...
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RGD:155631312, RGD:155631311, RGD:155641229, RGD:11560583 |
NCBI chr17:47,251,145...47,344,675
Ensembl chr17:47,251,163...47,341,721
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Atn1 |
atrophin 1 |
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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 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132
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Nalcn |
sodium leak channel, non-selective |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay |
OMIM CTD ClinVar |
PMID:25683120 PMID:25741868 PMID:25864427 PMID:26763878 PMID:26938784 PMID:27473021 PMID:27633718 PMID:27681385 PMID:28327206 PMID:28333917 PMID:28454995 PMID:28492532 PMID:30167850 PMID:32698188 More...
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NCBI chr15:100,398,583...100,741,243
Ensembl chr15:100,398,615...100,741,001
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Neurog1 |
neurogenin 1 |
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ISO |
ClinVar Annotator: match by term: Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay |
ClinVar OMIM |
PMID:25741868 PMID:26077850 PMID:33439489 PMID:36647078 |
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NCBI chr17:8,362,878...8,364,397
Ensembl chr17:8,362,821...8,364,571
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Wac |
WW domain containing adaptor with coiled-coil |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, FACIAL DYSMORPHISM, AND OCULAR ABNORMALITIES | ClinVar Annotator: match by term: DeSanto-Shinawi syndrome | ClinVar Annotator: match by term: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | ClinVar Annotator: match by term: WAC-related condition |
OMIM CTD ClinVar |
PMID:23033978 PMID:25741868 PMID:26264232 PMID:26757981 PMID:28191890 PMID:29190062 More...
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NCBI chr17:55,922,686...55,984,286
Ensembl chr17:55,923,123...55,982,301
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Satb1 |
SATB homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Developmental delay with dysmorphic facies and dental anomalies | ClinVar Annotator: match by term: SATB1-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:33513338 PMID:34782754 |
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NCBI chr 9:4,677,817...4,773,061
Ensembl chr 9:4,680,920...4,753,251
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Golga2 |
golgin A2 |
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ISO |
ClinVar Annotator: match by term: Developmental delay with hypotonia, myopathy, and brain abnormalities |
OMIM ClinVar |
PMID:25741868 PMID:30237576 PMID:34424553 |
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NCBI chr 3:15,583,862...15,604,279
Ensembl chr 3:15,584,039...15,604,279
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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 | ClinVar Annotator: match by term: TRRAP-Related Disorder | ClinVar Annotator: match by term: TRRAP-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30424743 PMID:30827496 |
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NCBI chr12:9,738,006...9,827,708
Ensembl chr12:9,738,006...9,827,674
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Meis2 |
Meis homeobox 2 |
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ISO |
DNA:mutations:cds:multiples |
RGD |
PMID:30291340 |
RGD:155598678 |
NCBI chr 3:102,742,904...102,944,833
Ensembl chr 3:102,742,900...102,949,696
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Taok1 |
TAO kinase 1 |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL DELAY WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Developmental delay with or without intellectual impairment or behavioral abnormalities |
OMIM ClinVar |
PMID:7768349 PMID:25741868 PMID:31230721 PMID:33565190 PMID:35091509 |
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NCBI chr10:62,373,072...62,465,295
Ensembl chr10:62,381,404...62,465,766
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Adgrl1 |
adhesion G protein-coupled receptor L1 |
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ISO |
ClinVar Annotator: match by term: Developmental delay, behavioral abnormalities, and neuropsychiatric disorders |
OMIM ClinVar |
PMID:25741868 PMID:29758562 PMID:30504930 PMID:35907405 |
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NCBI chr19:24,202,405...24,244,137
Ensembl chr19:24,204,360...24,244,139
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Fbxw7 |
F-box and WD repeat domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Developmental delay, hypotonia, and impaired language | ClinVar Annotator: match by term: FBXW7-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28135719 PMID:35395208 |
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NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941
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Srcap |
Snf2-related CREBBP activator protein |
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ISO |
ClinVar Annotator: match by term: Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:33909990 |
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NCBI chr 1:182,123,562...182,172,643
Ensembl chr 1:182,118,416...182,176,610
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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 |
OMIM ClinVar |
PMID:7964809 PMID:12601114 PMID:25741868 PMID:26497905 PMID:26659848 PMID:26912637 PMID:27105897 PMID:27105987 PMID:28135719 PMID:28492532 PMID:28581500 PMID:28771897 PMID:29440755 PMID:30624633 PMID:31618753 PMID:31785789 PMID:32693025 PMID:34059105 More...
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NCBI chr14:78,529,603...78,571,375
Ensembl chr14:78,527,009...78,571,343
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Nkap |
NFKB activating protein |
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ISO |
ClinVar Annotator: match by term: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy |
ClinVar |
PMID:25741868 |
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NCBI chr X:116,373,031...116,392,677
Ensembl chr X:116,372,839...116,394,945
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Sptbn1 |
spectrin, beta, non-erythrocytic 1 |
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ISO |
ClinVar Annotator: match by term: Developmental delay, impaired speech, and behavioral abnormalities | ClinVar Annotator: match by term: SPTBN1-related condition |
OMIM ClinVar |
PMID:25741868 PMID:33847457 PMID:34211179 |
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NCBI chr14:103,841,713...104,016,900
Ensembl chr14:103,842,684...104,008,507
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Arfgef1 |
ADP ribosylation factor guanine nucleotide exchange factor 1 |
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ISO |
ClinVar Annotator: match by term: ARFGEF1-related condition | ClinVar Annotator: match by term: Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures |
OMIM ClinVar |
PMID:25741868 PMID:34113008 |
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NCBI chr 5:8,982,061...9,076,326
Ensembl chr 5:8,981,540...9,076,326
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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 DYSMORPHISM | ClinVar Annotator: match by term: PHIP-related condition |
ClinVar |
PMID:9536098 PMID:17576681 PMID:23033978 PMID:25741868 PMID:28492532 PMID:29209020 More...
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NCBI chr 8:83,731,512...83,748,289
Ensembl chr 8:83,731,507...83,748,289
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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 DYSMORPHISM | ClinVar Annotator: match by term: PHIP-Related Disorder | ClinVar Annotator: match by term: PHIP-related condition |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23033978 PMID:25741868 PMID:27479843 PMID:27900362 PMID:28263302 PMID:28492532 PMID:29209020 PMID:33004838 More...
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NCBI chr 8:83,776,802...83,891,192
Ensembl chr 8:83,781,465...83,894,283
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Arpc4 |
actin related protein 2/3 complex, subunit 4 |
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ISO |
ClinVar Annotator: match by term: Developmental delay, language impairment, and ocular abnormalities |
OMIM ClinVar |
PMID:35047857 |
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NCBI chr 4:146,522,255...146,532,784
Ensembl chr 4:146,522,176...146,532,785
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Manf |
mesencephalic astrocyte-derived neurotrophic factor |
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ISO |
ClinVar Annotator: match by term: Diabetes, deafness, developmental delay, and short stature syndrome |
OMIM ClinVar |
PMID:26077850 PMID:33500254 |
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NCBI chr 8:107,500,856...107,551,595
Ensembl chr 8:107,548,352...107,551,438
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Gsx2 |
GS homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 2 |
OMIM ClinVar |
PMID:25741868 PMID:31412107 |
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NCBI chr14:33,123,799...33,126,151
Ensembl chr14:33,124,381...33,126,105
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Dph1 |
diphthamide biosynthesis 1 |
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ISO |
ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair |
ClinVar |
PMID:14744934 PMID:24895408 PMID:25558065 PMID:25741868 PMID:26220823 PMID:28492532 PMID:29362492 PMID:29410513 PMID:29565416 PMID:30877278 PMID:32595695 PMID:32732226 More...
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NCBI chr10:60,028,081...60,039,764
Ensembl chr10:60,026,048...60,039,850
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Dph2 |
diphthamide biosynthesis 2 |
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ISO |
ClinVar Annotator: match by term: diphthamide-deficiency syndrome |
ClinVar |
PMID:25741868 PMID:27421267 PMID:32576952 |
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NCBI chr 5:131,428,434...131,431,394
Ensembl chr 5:131,428,268...131,431,395
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Dph1 |
diphthamide biosynthesis 1 |
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ISO |
ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25558065 PMID:25741868 PMID:30877278 |
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NCBI chr10:60,028,081...60,039,764
Ensembl chr10:60,026,048...60,039,850
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G |
Dph2 |
diphthamide biosynthesis 2 |
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ISO |
ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 |
ClinVar OMIM |
PMID:25741868 PMID:27421267 PMID:32576952 |
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NCBI chr 5:131,428,434...131,431,394
Ensembl chr 5:131,428,268...131,431,395
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Deaf1 |
DEAF1 transcription factor |
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ISO |
ClinVar Annotator: match by term: DEAF1-Related Disorder | ClinVar Annotator: match by term: DEAF1-related condition | ClinVar Annotator: match by term: Dyskinesia, seizures, and intellectual developmental disorder CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:11690625 PMID:17576681 PMID:24668509 PMID:24726472 PMID:25741868 PMID:26048982 PMID:26467025 PMID:26795593 PMID:26834045 PMID:28492532 PMID:28940898 PMID:30923367 PMID:31688097 PMID:31929336 PMID:32094338 More...
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NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541
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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 |
OMIM ClinVar |
PMID:24853937 PMID:25420024 PMID:25741868 PMID:26974950 PMID:28492532 PMID:29463886 PMID:31197650 PMID:31595951 PMID:32346159 More...
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NCBI chr 1:182,386,197...182,411,695
Ensembl chr 1:182,388,060...182,411,090
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Eif5a |
eukaryotic translation initiation factor 5A |
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ISO |
ClinVar Annotator: match by term: Faundes-Banka syndrome |
OMIM ClinVar |
PMID:25741868 PMID:33547280 |
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NCBI chr10:54,640,104...54,644,845
Ensembl chr10:54,640,024...54,644,656
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Cripto |
cripto, EGF-CFC family member |
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ISO |
ClinVar Annotator: match by term: Forebrain defects |
ClinVar |
PMID:11062482 PMID:12073012 |
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NCBI chr 8:110,924,774...110,938,545
Ensembl chr 8:110,925,024...110,930,308
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Sh3pxd2b |
SH3 and PX domains 2B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Frank-Ter Haar syndrome |
OMIM CTD ClinVar |
PMID:7158646 PMID:8484415 PMID:15523657 PMID:20137777 PMID:22509100 PMID:23140272 PMID:24105366 PMID:25741868 PMID:28492532 PMID:29276006 PMID:31931872 PMID:31978614 More...
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NCBI chr10:16,918,611...17,027,499
Ensembl chr10:16,918,679...17,005,170
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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 chr12:20,107,062...20,425,868
Ensembl chr12:20,107,311...20,425,866
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G |
Taok1 |
TAO kinase 1 |
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ISO |
ClinVar Annotator: match by term: Global developmental delay with or without impaired intellectual development |
ClinVar |
PMID:25741868 |
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NCBI chr10:62,373,072...62,465,295
Ensembl chr10:62,381,404...62,465,766
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Adamtsl2 |
ADAMTS-like 2 |
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ISO |
Geleophysic dysplasia, ADMATSL2-related |
OMIA |
PMID:20862248 PMID:28158899 |
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NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554
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Tnrc6b |
trinucleotide repeat containing adaptor 6B |
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ISO |
ClinVar Annotator: match by term: Global developmental delay with speech and behavioral abnormalities | ClinVar Annotator: match by term: TNRC6B-related condition |
OMIM ClinVar |
PMID:25741868 PMID:29463886 PMID:32152250 PMID:33004838 |
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NCBI chr 7:112,252,351...112,469,829
Ensembl chr 7:112,252,359...112,461,790
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Zfp148 |
zinc finger protein 148 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | ClinVar Annotator: match by term: ZNF148-related condition |
OMIM CTD ClinVar |
PMID:12840224 PMID:25741868 PMID:27964749 |
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NCBI chr11:67,276,455...67,385,803
Ensembl chr11:67,281,707...67,385,772
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Dicer1 |
dicer 1 ribonuclease III |
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ISO |
ClinVar Annotator: match by term: GLOW SYNDROME |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19556464 PMID:21205968 PMID:21266384 PMID:21882293 PMID:23728841 PMID:24481001 PMID:24513630 PMID:24617712 PMID:24675358 PMID:24676357 PMID:24728327 PMID:24839956 PMID:24909177 PMID:25022261 PMID:25190313 PMID:25356068 PMID:25451712 PMID:25525159 PMID:25670082 PMID:25741868 PMID:25836323 PMID:26033159 PMID:26467025 PMID:26475046 PMID:26555935 PMID:26556299 PMID:26577641 PMID:26580448 PMID:26841698 PMID:26886166 PMID:26893459 PMID:26925222 PMID:26928971 PMID:27126690 PMID:27459524 PMID:27819237 PMID:27930734 PMID:28177962 PMID:28222777 PMID:28492532 PMID:28524158 PMID:28624956 PMID:28748527 PMID:28825729 PMID:28862265 PMID:29315962 PMID:29399970 PMID:29881993 PMID:29883781 PMID:29945567 PMID:30014022 PMID:30178239 PMID:30266945 PMID:30649606 PMID:30672147 PMID:31820118 PMID:31838154 PMID:31911633 PMID:32714280 PMID:32832834 PMID:33630087 PMID:33729574 PMID:33782093 PMID:34291157 More...
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NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
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Gls |
glutaminase |
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ISO |
ClinVar Annotator: match by term: Global developmental delay, progressive ataxia, and elevated glutamine |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900
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C18h18orf32 |
similar to human chromosome 18 open reading frame 32 |
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ISO |
ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 25 |
OMIM ClinVar |
PMID:28492532 PMID:35107634 |
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NCBI chr18:68,586,278...68,594,851
Ensembl chr18:68,586,211...68,596,787
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Fto |
FTO, alpha-ketoglutarate dependent dioxygenase |
susceptibility |
ISO |
ClinVar Annotator: match by term: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM | ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:19559399 PMID:19833892 PMID:20299471 PMID:23505181 PMID:23825611 PMID:24289790 PMID:25741868 PMID:26378117 PMID:26820768 PMID:27105045 PMID:28492532 More...
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NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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Rpgrip1l |
Rpgrip1-like |
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ISO |
ClinVar Annotator: match by term: Growth retardation, developmental delay, coarse facies, and early death |
ClinVar |
PMID:28492532 |
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NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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Dnmt3a |
DNA methyltransferase 3 alpha |
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ISO |
ClinVar Annotator: match by term: Heyn-Sproul-Jackson syndrome |
OMIM ClinVar |
PMID:11836534 PMID:15456878 PMID:25741868 PMID:26912663 PMID:28492532 PMID:29740169 PMID:30478443 PMID:33182397 More...
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NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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Rala |
RAS like proto-oncogene A |
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ISO |
ClinVar Annotator: match by term: Hiatt-Neu-Cooper neurodevelopmental syndrome | ClinVar Annotator: match by term: RALA-related condition |
OMIM ClinVar |
PMID:11701921 PMID:15950903 PMID:15980073 PMID:25741868 PMID:28492532 PMID:30500825 PMID:30761613 More...
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NCBI chr17:47,092,163...47,145,192
Ensembl chr17:47,092,207...47,144,063
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Adk |
adenosine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ADK-related condition | ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8 |
OMIM CTD ClinVar |
PMID:21963049 PMID:25741868 PMID:26642971 PMID:26975589 PMID:28492532 |
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NCBI chr15:2,863,241...3,246,453
Ensembl chr15:2,863,244...3,246,510
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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:28492532 PMID:31155284 |
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NCBI chr10:14,151,758...14,177,130
Ensembl chr10:14,151,758...14,177,130
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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 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:19627984 PMID:20300201 PMID:25741868 PMID:28017370 PMID:28017372 PMID:28017373 PMID:28487885 PMID:28492532 PMID:29062322 PMID:29162653 PMID:30145808 PMID:31952901 PMID:32366537 PMID:32581362 PMID:32637629 PMID:33102976 PMID:33956416 PMID:35340043 PMID:35346031 More...
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NCBI chr 1:191,996,726...192,114,593
Ensembl chr 1:191,996,730...192,114,359
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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 PMID:28492532 PMID:28955726 PMID:29878067 PMID:31041561 More...
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NCBI chr14:77,455,580...77,482,821
Ensembl chr14:77,455,696...77,482,821
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Tpp2 |
tripeptidyl peptidase 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 78 with autoimmunity and developmental delay |
OMIM ClinVar |
PMID:25414442 PMID:25525876 PMID:25741868 PMID:28492532 PMID:30533531 PMID:33586135 More...
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NCBI chr 9:46,046,712...46,128,157
Ensembl chr 9:46,046,632...46,128,157
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Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency, developmental delay, and hypohomocysteinemia | ClinVar Annotator: match by term: NFE2L2-related condition |
OMIM ClinVar |
PMID:24130096 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29018201 PMID:31107239 More...
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NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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G |
Kcnj6 |
potassium inwardly-rectifying channel, subfamily J, member 6 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: KCNJ6-related condition | ClinVar Annotator: match by term: Keppen-Lubinsky syndrome |
OMIM CTD ClinVar |
PMID:19610118 PMID:25620207 PMID:25741868 PMID:28492532 |
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NCBI chr11:34,061,702...34,308,758
Ensembl chr11:34,061,708...34,308,758
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G |
Aff3 |
ALF transcription elongation factor 3 |
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ISO ISS |
OMIM:619297 ClinVar Annotator: match by term: KINSSHIP syndrome |
OMIM MouseDO ClinVar |
PMID:25741868 PMID:31388108 PMID:33961779 |
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NCBI chr 9:40,399,099...40,856,716
Ensembl chr 9:40,404,375...40,857,247
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G |
Satb1 |
SATB homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Kohlschutter-Tonz syndrome-like |
OMIM ClinVar |
PMID:15930900 PMID:16371359 PMID:17652321 PMID:25741868 PMID:27462121 PMID:28492532 PMID:33513338 PMID:34782754 More...
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NCBI chr 9:4,677,817...4,773,061
Ensembl chr 9:4,680,920...4,753,251
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G |
Bap1 |
Brca1 associated protein 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Kury-Isidor syndrome |
OMIM ClinVar |
PMID:16341802 PMID:19197335 PMID:21874000 PMID:23684012 PMID:24970262 PMID:25741868 PMID:25974357 PMID:26467025 PMID:26683624 PMID:26719535 PMID:28492532 PMID:28551647 PMID:29625052 PMID:29641532 PMID:29758562 PMID:31034483 PMID:32068069 PMID:33240524 PMID:35051358 More...
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NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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G |
Sox5 |
SRY-box transcription factor 5 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lamb-Shaffer syndrome |
OMIM CTD ClinVar |
PMID:22290657 PMID:23220431 PMID:23498568 PMID:25741868 PMID:26111154 PMID:28708303 PMID:31578471 More...
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NCBI chr 4:176,781,375...177,736,833
Ensembl chr 4:176,785,892...177,736,852
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G |
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 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:32197074 PMID:33236446 PMID:33553620 PMID:35146068 More...
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NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971
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G |
Gon7 |
GON7 subunit of KEOPS complex |
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ISO |
ClinVar Annotator: match by term: Li-Campeau syndrome |
ClinVar |
PMID:33340455 |
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NCBI chr 6:121,882,565...121,898,452
Ensembl chr 6:121,885,694...121,898,643 Ensembl chr 6:121,885,694...121,898,643
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G |
Ubr7 |
ubiquitin protein ligase E3 component n-recognin 7 |
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ISO |
ClinVar Annotator: match by term: Li-Campeau syndrome |
OMIM ClinVar |
PMID:25741868 PMID:33340455 |
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NCBI chr 6:121,898,613...121,918,480
Ensembl chr 6:121,898,623...121,918,477
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G |
Cdk5 |
cyclin-dependent kinase 5 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia |
OMIM CTD ClinVar |
PMID:25560765 |
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NCBI chr 4:10,754,682...10,760,110
Ensembl chr 4:10,754,687...10,760,112
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G |
Kif9 |
kinesin family member 9 |
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ISO |
ClinVar Annotator: match by term: Luscan-Lumish syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:110,459,467...110,504,492
Ensembl chr 8:110,459,383...110,505,252
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G |
Klhl18 |
kelch-like family member 18 |
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ISO |
ClinVar Annotator: match by term: Luscan-Lumish syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:110,400,679...110,459,442
Ensembl chr 8:110,400,681...110,459,323
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G |
Ptpn23 |
protein tyrosine phosphatase, non-receptor type 23 |
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ISO |
ClinVar Annotator: match by term: Luscan-Lumish syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:110,360,804...110,383,271
Ensembl chr 8:110,360,804...110,383,271
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G |
Setd2 |
SET domain containing 2, histone lysine methyltransferase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Luscan-Lumish syndrome | ClinVar Annotator: match by term: Luscan-lumish syndrome |
OMIM CTD ClinVar |
PMID:9536098 PMID:17576681 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:28166811 PMID:28424246 PMID:28492532 PMID:28577310 PMID:29276005 PMID:29681085 PMID:30419952 PMID:31474318 PMID:32668055 PMID:32710489 PMID:33004838 More...
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NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489
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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 |
OMIM ClinVar |
PMID:23181898 PMID:25741868 PMID:27582084 |
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NCBI chr 3:93,756,399...93,778,004
Ensembl chr 3:93,756,446...93,769,162
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G |
Cars1 |
cysteinyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, developmental delay, and brittle hair syndrome |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30824121 |
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NCBI chr 1:198,753,689...198,796,016
Ensembl chr 1:198,753,691...198,795,941
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G |
Nusap1 |
nucleolar and spindle associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay |
ClinVar |
PMID:25741868 |
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NCBI chr 3:106,603,273...106,633,428
Ensembl chr 3:106,603,289...106,633,624
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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 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:16199547 PMID:17576681 PMID:18005052 PMID:18266750 PMID:18414213 PMID:18678442 PMID:18845387 PMID:20118933 PMID:21307862 PMID:21560189 PMID:22508754 PMID:23224214 PMID:23708187 PMID:23833122 PMID:24033266 PMID:24938145 PMID:25558065 PMID:25728773 PMID:25741868 PMID:26467025 PMID:26993267 PMID:27066567 PMID:27066586 PMID:27125728 PMID:27232581 PMID:27890643 PMID:28492532 PMID:29261713 PMID:29652299 PMID:29655203 PMID:29720203 PMID:30039206 PMID:31061747 PMID:31167812 PMID:31436889 PMID:31707899 PMID:32010037 PMID:32056211 PMID:32347949 PMID:32504494 PMID:32980744 PMID:33654647 PMID:34009545 PMID:34040816 PMID:35354845 More...
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NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
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Gfer |
growth factor, augmenter of liver regeneration |
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ISO |
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED | ClinVar Annotator: match by term: Myopathy with cataract and combined respiratory-chain deficiency | ClinVar Annotator: match by term: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8627443 PMID:16199547 PMID:18414213 PMID:19409522 PMID:20593814 PMID:25269795 PMID:25326635 PMID:25741868 PMID:26018198 PMID:26757139 PMID:26944241 PMID:28155230 PMID:28492532 PMID:28812649 PMID:28939701 PMID:34732400 More...
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NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869
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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:22851008 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 PMID:30155738 PMID:30236257 PMID:30406384 PMID:30842289 PMID:33646171 PMID:33767344 PMID:35428369 PMID:35599849 More...
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NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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G |
Slf2 |
SMC5-SMC6 complex localization factor 2 |
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ISO |
ClinVar Annotator: match by term: Atelis syndrome 1 |
OMIM ClinVar |
PMID:36333305 |
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NCBI chr 1:243,782,786...243,845,418
Ensembl chr 1:243,782,246...243,845,250
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G |
Med11 |
mediator complex subunit 11 |
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ISO |
ClinVar Annotator: match by term: Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities |
OMIM ClinVar |
PMID:36001086 |
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NCBI chr10:55,164,322...55,165,940
Ensembl chr10:55,164,326...55,166,533
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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 |
OMIM ClinVar |
PMID:25741868 PMID:28763441 |
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NCBI chr 5:24,295,542...24,344,642
Ensembl chr 5:24,297,191...24,344,740
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G |
Exoc2 |
exocyst complex component 2 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia |
ClinVar OMIM |
PMID:32639540 |
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NCBI chr17:33,506,289...33,698,246
Ensembl chr17:33,506,338...33,693,289
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G |
Hus1b |
HUS1 checkpoint clamp component B |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia |
ClinVar |
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NCBI chr17:33,534,032...33,535,199
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G |
Ube4a |
ubiquitination factor E4A |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay |
OMIM ClinVar |
PMID:25741868 PMID:27431290 PMID:33420346 |
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NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038
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G |
Zftraf1 |
zinc finger TRAF type containing 1 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay |
ClinVar |
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NCBI chr 7:108,363,989...108,377,428
Ensembl chr 7:108,364,381...108,380,021
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G |
Dph5 |
diphthamide biosynthesis 5 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties |
OMIM ClinVar |
PMID:25741868 PMID:35482014 |
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NCBI chr 2:203,804,620...203,858,196
Ensembl chr 2:203,804,936...203,840,433
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G |
Slc30a7 |
solute carrier family 30 member 7 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties |
ClinVar |
PMID:25741868 PMID:35482014 |
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NCBI chr 2:203,855,484...203,922,155
Ensembl chr 2:203,859,175...203,922,132
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G |
Med27 |
mediator complex subunit 27 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia |
ClinVar OMIM |
PMID:33443317 |
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NCBI chr 3:12,629,593...12,803,340
Ensembl chr 3:12,629,603...12,803,339
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G |
Med12l |
mediator complex subunit 12L |
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ISO |
ClinVar Annotator: match by term: Nizon-Isidor syndrome |
OMIM ClinVar |
PMID:25741868 PMID:31155615 |
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NCBI chr 2:143,253,048...143,576,507
Ensembl chr 2:143,252,139...143,573,741
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G |
P2ry12 |
purinergic receptor P2Y12 |
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ISO |
ClinVar Annotator: match by term: Nizon-Isidor syndrome |
ClinVar |
PMID:25741868 PMID:31155615 |
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NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361
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G |
Ntrk2 |
neurotrophic receptor tyrosine kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: NTRK2-related condition | ClinVar Annotator: match by term: Obesity, hyperphagia, and developmental delay |
OMIM CTD ClinVar |
PMID:15494731 PMID:25741868 PMID:27884935 PMID:28492532 PMID:29100083 |
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NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
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G |
Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ogden syndrome |
OMIM CTD 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:29957440 PMID:31127942 PMID:31174490 PMID:34200686 PMID:35039925 More...
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NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
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G |
Pnpla6 |
patatin-like phospholipase domain containing 6 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome |
OMIM CTD ClinVar |
PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:23733235 PMID:24355708 PMID:25299038 PMID:25480986 PMID:25574898 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31135245 PMID:31780887 More...
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NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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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 PMID:30250212 |
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NCBI chr10:100,507,863...100,516,649
Ensembl chr10:100,507,865...100,516,658
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G |
Copb2 |
COPI coat complex subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Osteoporosis, childhood- or juvenile-onset, with developmental delay |
OMIM ClinVar |
PMID:25741868 PMID:34450031 |
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NCBI chr 8:99,161,324...99,183,452
Ensembl chr 8:99,161,350...99,185,197
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G |
Lrrk1 |
leucine-rich repeat kinase 1 |
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ISO |
ClinVar Annotator: match by term: LRRK1-related condition | ClinVar Annotator: match by term: Osteosclerotic metaphyseal dysplasia |
OMIM ClinVar |
PMID:8255649 PMID:25741868 PMID:27055475 PMID:27829680 PMID:28492532 PMID:31571209 PMID:32119750 More...
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NCBI chr 1:119,844,360...119,972,885
Ensembl chr 1:119,845,146...119,979,734
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G |
Tubgcp2 |
tubulin gamma complex component 2 |
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ISO |
ClinVar Annotator: match by term: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures |
OMIM ClinVar |
PMID:25741868 PMID:31630790 PMID:32368696 PMID:33458610 |
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NCBI chr 1:194,791,113...194,817,807
Ensembl chr 1:194,792,142...194,817,619
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G |
Nedd4l |
NEDD4 like E3 ubiquitin protein ligase |
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ISO |
ClinVar Annotator: match by term: NEDD4L-related condition | ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 | ClinVar Annotator: match by term: Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay |
OMIM ClinVar |
PMID:25741868 PMID:27694961 PMID:28492532 PMID:28515470 PMID:32117442 PMID:32238909 More...
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NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137
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G |
Tbl1xr1 |
TBL1X/Y related 1 |
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ISO ISS |
OMIM:602342 ClinVar Annotator: match by term: Pierpont syndrome | ClinVar Annotator: match by term: TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome CTD Direct Evidence: marker/mechanism |
OMIM MouseDO ClinVar CTD |
PMID:9450851 PMID:9536098 PMID:16199547 PMID:16492805 PMID:17576681 PMID:18414213 PMID:19760657 PMID:21156281 PMID:21156282 PMID:23160955 PMID:25102098 PMID:25741868 PMID:26467025 PMID:26740553 PMID:26769062 PMID:27133561 PMID:27824329 PMID:28492532 PMID:28562391 PMID:28574232 PMID:28588275 PMID:29777588 PMID:30365874 PMID:30577886 PMID:31394400 PMID:31618753 PMID:32369273 PMID:32619424 PMID:32932517 PMID:33527360 PMID:35165208 More...
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NCBI chr 2:104,788,950...104,929,055
Ensembl chr 2:104,801,721...104,929,055
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G |
Pah |
phenylalanine hydroxylase |
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ISO |
ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis |
ClinVar |
PMID:1971144 PMID:2014036 PMID:2564729 PMID:8533759 PMID:9101291 PMID:9399896 PMID:9634518 PMID:9781015 PMID:10394930 PMID:11385716 PMID:11524738 PMID:11696894 PMID:12655546 PMID:12655553 PMID:16198137 PMID:16765994 PMID:17924342 PMID:17935162 PMID:18493213 PMID:21953985 PMID:22763404 PMID:22841515 PMID:23074961 PMID:23357515 PMID:23430918 PMID:23500595 PMID:24350308 PMID:24368688 PMID:25741868 PMID:26210745 PMID:26467025 PMID:26542770 PMID:28492532 PMID:29499199 PMID:30963030 PMID:31355225 More...
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NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130
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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 |
OMIM ClinVar |
PMID:25741868 PMID:25855803 PMID:26752647 PMID:28492532 PMID:34415310 PMID:34415322 More...
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NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080
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G |
Als2cl |
ALS2 C-terminal like |
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ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:110,863,753...110,884,434
Ensembl chr 8:110,864,975...110,884,419
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G |
Arih2 |
ariadne RBR E3 ubiquitin protein ligase 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:109,296,738...109,355,909
Ensembl chr 8:109,296,738...109,355,852
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G |
Arih2os |
ARIH2 opposite strand lncRNA |
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ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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G |
Camp |
cathelicidin antimicrobial peptide |
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ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:109,841,729...109,843,543
Ensembl chr 8:109,841,729...109,843,543
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G |
Ccdc12 |
coiled-coil domain containing 12 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:110,635,276...110,686,417
Ensembl chr 8:110,635,710...110,686,417
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G |
Ccdc51 |
coiled-coil domain containing 51 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:109,722,595...109,741,478
Ensembl chr 8:109,722,557...109,741,472
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G |
Ccr1 |
C-C motif chemokine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:123,556,286...123,561,841
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G |
Ccr2 |
C-C motif chemokine receptor 2 |
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ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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G |
Ccr3 |
C-C motif chemokine receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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G |
Ccr5 |
C-C motif chemokine receptor 5 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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G |
Ccr9 |
C-C motif chemokine receptor 9 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:123,396,157...123,410,199
Ensembl chr 8:123,395,813...123,413,969
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G |
Ccrl2 |
C-C motif chemokine receptor like 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:111,034,279...111,036,914
Ensembl chr 8:111,034,279...111,036,664
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G |
Cdc25a |
cell division cycle 25A |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:109,864,356...109,882,734
Ensembl chr 8:109,864,478...109,882,701
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G |
Celsr3 |
cadherin, EGF LAG seven-pass G-type receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:109,530,597...109,558,360
Ensembl chr 8:109,530,641...109,558,354
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G |
Col7a1 |
collagen type VII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252
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G |
Cripto |
cripto, EGF-CFC family member |
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ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:110,924,774...110,938,545
Ensembl chr 8:110,925,024...110,930,308
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G |
Cspg5 |
chondroitin sulfate proteoglycan 5 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:110,220,506...110,234,766
Ensembl chr 8:110,220,653...110,234,758
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G |
Cxcr6 |
C-X-C motif chemokine receptor 6 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:123,434,417...123,439,568
Ensembl chr 8:123,416,325...123,439,526
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G |
Dalrd3 |
DALR anticodon binding domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:109,264,100...109,268,560
Ensembl chr 8:109,265,676...109,268,568
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G |
Dhx30 |
DExH-box helicase 30 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:110,064,751...110,096,954
Ensembl chr 8:110,064,752...110,097,381
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G |
Elp6 |
elongator acetyltransferase complex subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:110,280,059...110,295,070
Ensembl chr 8:110,279,979...110,295,067
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G |
Fbxw12 |
F-box and WD repeat domain containing 12 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:109,782,315...109,802,086
Ensembl chr 8:109,786,815...109,801,813
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G |
Fyco1 |
FYVE and coiled-coil domain autophagy adaptor 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:123,412,105...123,479,315
Ensembl chr 8:123,412,112...123,479,021
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G |
Impdh2 |
inosine monophosphate dehydrogenase 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:109,256,705...109,261,365
Ensembl chr 8:109,256,728...109,261,359
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G |
Ip6k2 |
inositol hexakisphosphate kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:109,483,843...109,510,172
Ensembl chr 8:109,484,310...109,510,166
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G |
Kif9 |
kinesin family member 9 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:110,459,467...110,504,492
Ensembl chr 8:110,459,383...110,505,252
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G |
Klhl18 |
kelch-like family member 18 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:110,400,679...110,459,442
Ensembl chr 8:110,400,681...110,459,323
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G |
Lars2 |
leucyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:123,010,271...123,106,395
Ensembl chr 8:123,010,293...123,106,395
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G |
Limd1 |
LIM domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:123,121,363...123,168,476
Ensembl chr 8:123,122,460...123,167,714
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G |
Lrrc2 |
leucine rich repeat containing 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:110,936,119...110,969,189
Ensembl chr 8:110,938,165...110,969,185
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G |
Ltf |
lactotransferrin |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795
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G |
Lztfl1 |
leucine zipper transcription factor-like 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192
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G |
Map4 |
microtubule-associated protein 4 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:109,925,233...110,064,370
Ensembl chr 8:109,925,575...110,064,362
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G |
Mir191 |
microRNA 191 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:109,264,098...109,264,188
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G |
Myl3 |
myosin light chain 3 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816
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G |
Nbeal2 |
neurobeachin-like 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:110,603,220...110,633,612
Ensembl chr 8:110,599,389...110,633,707
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G |
Nckipsd |
NCK interacting protein with SH3 domain |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:109,511,484...109,522,622
Ensembl chr 8:109,511,658...109,522,246
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G |
Ndufaf3 |
NADH:ubiquinone oxidoreductase complex assembly factor 3 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:109,261,362...109,263,194
Ensembl chr 8:109,261,363...109,263,194
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G |
Nme6 |
NME/NM23 nucleoside diphosphate kinase 6 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301
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G |
P4htm |
prolyl 4-hydroxylase, transmembrane |
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ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:109,274,629...109,292,802
Ensembl chr 8:109,274,626...109,292,473
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G |
Pfkfb4 |
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:109,643,558...109,687,006
Ensembl chr 8:109,643,937...109,685,634
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G |
Plxnb1 |
plexin B1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:109,743,470...109,769,153
Ensembl chr 8:109,744,697...109,769,027
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G |
Prkar2a |
protein kinase cAMP-dependent type II regulatory subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:109,393,189...109,458,832
Ensembl chr 8:109,395,833...109,455,628
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G |
Prss50 |
serine protease 50 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:110,842,525...110,848,855
Ensembl chr 8:110,842,671...110,848,802
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G |
Pth1r |
parathyroid hormone 1 receptor |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
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G |
Ptpn23 |
protein tyrosine phosphatase, non-receptor type 23 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:110,360,804...110,383,271
Ensembl chr 8:110,360,804...110,383,271
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G |
Qars1 |
glutaminyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 PMID:25471517 PMID:25741868 PMID:26467025 PMID:26869582 PMID:27572814 PMID:28492532 PMID:28620870 PMID:29875423 PMID:30755392 PMID:31618474 PMID:32042906 PMID:33256324 More...
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NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739
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G |
Qrich1 |
glutamine-rich 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:109,216,900...109,256,472
Ensembl chr 8:109,217,376...109,261,359
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G |
Rtp3 |
receptor (chemosensory) transporter protein 3 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:110,970,154...110,975,000
Ensembl chr 8:110,970,160...110,974,699
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G |
Sacm1l |
SAC1 like phosphatidylinositide phosphatase |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:123,176,017...123,232,413
Ensembl chr 8:123,172,536...123,232,413
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G |
Scap |
SREBF chaperone |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:110,306,026...110,360,677
Ensembl chr 8:110,306,031...110,360,666
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G |
Setd2 |
SET domain containing 2, histone lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489
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G |
Shisa5 |
shisa family member 5 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:109,691,504...109,706,411
Ensembl chr 8:109,691,522...109,706,408
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G |
Slc25a20 |
solute carrier family 25 member 20 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:109,365,056...109,386,512
Ensembl chr 8:109,365,002...109,386,512
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G |
Slc26a6 |
solute carrier family 26 member 6 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:109,558,968...109,569,778
Ensembl chr 8:109,559,642...109,569,778
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G |
Slc6a20a |
solute carrier family 6 member 20a |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:123,282,325...123,322,609
Ensembl chr 8:123,281,472...123,322,573
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G |
Smarcc1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:110,111,097...110,214,734
Ensembl chr 8:110,111,122...110,214,720
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G |
Spink8 |
serine peptidase inhibitor, Kazal type 8 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:109,814,062...109,828,994
Ensembl chr 8:109,817,365...109,828,994
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G |
Tma7 |
translation machinery associated 7 homolog |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:109,726,213...109,730,902
Ensembl chr 8:109,726,196...109,735,474
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G |
Tmem89 |
transmembrane protein 89 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:109,571,377...109,572,271
Ensembl chr 8:109,571,377...109,572,271
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G |
Tmie |
transmembrane inner ear |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:110,849,713...110,864,803
Ensembl chr 8:110,850,034...110,864,803
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G |
Trex1 |
three prime repair exonuclease 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796
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G |
Ucn2 |
urocortin 2 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:109,637,624...109,639,173
Ensembl chr 8:109,638,285...109,639,172
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G |
Uqcrc1 |
ubiquinol-cytochrome c reductase core protein 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:109,589,735...109,601,481
Ensembl chr 8:109,589,706...109,601,480
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G |
Wdr6 |
WD repeat domain 6 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:109,268,079...109,274,504
Ensembl chr 8:109,268,079...109,274,499
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G |
Xcr1 |
X-C motif chemokine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:123,479,454...123,516,168
Ensembl chr 8:123,479,590...123,487,226
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G |
Ocln |
occludin |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pseudo-TORCH syndrome 1 |
OMIM CTD ClinVar |
PMID:18414213 PMID:19012351 PMID:20727516 PMID:25741868 PMID:28492532 |
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NCBI chr 2:31,657,217...31,707,466
Ensembl chr 2:31,657,220...31,764,150
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G |
Usp18 |
ubiquitin specific peptidase 18 |
|
ISO |
ClinVar Annotator: match by term: Pseudo-TORCH syndrome 2 |
OMIM ClinVar |
PMID:12833411 PMID:25741868 PMID:27325888 PMID:31940699 |
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NCBI chr 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144
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G |
Stat2 |
signal transducer and activator of transcription 2 |
|
ISO |
ClinVar Annotator: match by term: Pseudo-TORCH syndrome 3 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31836668 PMID:32092142 |
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NCBI chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967
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G |
Farsb |
phenylalanyl-tRNA synthetase subunit beta |
|
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 9:79,887,852...79,947,082
Ensembl chr 9:79,887,842...79,947,045
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G |
Farsb |
phenylalanyl-tRNA synthetase subunit beta |
|
ISO |
ClinVar Annotator: match by term: FARSB-related condition | ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25741868 PMID:28492532 PMID:29979980 |
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NCBI chr 9:79,887,852...79,947,082
Ensembl chr 9:79,887,842...79,947,045
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G |
Farsa |
phenylalanyl-tRNA synthetase subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 2 |
OMIM ClinVar |
PMID:25741868 PMID:31355908 |
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NCBI chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980
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G |
Knstrn |
kinetochore-localized astrin/SPAG5 binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic |
OMIM CTD ClinVar |
PMID:19863561 PMID:29180244 |
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NCBI chr 3:105,800,762...105,820,555
Ensembl chr 3:105,800,954...105,820,715
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G |
Pik3cd |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta |
|
ISO |
ClinVar Annotator: match by term: Roifman-Chitayat syndrome | ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16984281 PMID:17576681 PMID:19863561 PMID:24136356 PMID:24165795 PMID:24610295 PMID:25352054 PMID:25741868 PMID:26437962 PMID:26732860 PMID:28492532 PMID:29180244 PMID:29921932 PMID:32581362 PMID:36703223 More...
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NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
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Tkt |
transketolase |
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ISO |
ClinVar Annotator: match by term: Transketolase deficiency |
OMIM ClinVar |
PMID:25741868 PMID:27259054 PMID:28492532 |
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NCBI chr16:5,723,764...5,748,702
Ensembl chr16:5,723,762...5,748,698
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Arcn1 |
archain 1 |
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ISO |
ClinVar Annotator: match by term: ARCN1-related condition | ClinVar Annotator: match by term: Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay |
OMIM ClinVar |
PMID:25741868 PMID:27476655 PMID:28492532 PMID:31075182 PMID:33154040 PMID:35300924 More...
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NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247
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Fitm2 |
fat storage-inducing transmembrane protein 2 |
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ISO |
ClinVar Annotator: match by term: Siddiqi syndrome |
OMIM ClinVar |
PMID:25741868 PMID:28067622 PMID:30214770 PMID:30288795 |
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NCBI chr 3:152,141,346...152,147,858
Ensembl chr 3:152,141,346...152,147,858
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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 |
OMIM ClinVar |
PMID:2649490 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25193871 PMID:25652405 PMID:25741868 PMID:26494905 PMID:27370603 PMID:27389523 PMID:27531075 PMID:28492532 PMID:29055896 PMID:29358286 PMID:29454993 PMID:29610179 PMID:30758723 PMID:31019026 PMID:31338833 PMID:31664448 PMID:32371413 PMID:32592741 PMID:33332575 PMID:33646446 PMID:33936027 PMID:34510712 More...
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NCBI chr 4:139,681,115...139,703,611
Ensembl chr 4:139,680,858...139,703,611
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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:30712878 PMID:31303265 |
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NCBI chr 9:44,945,872...44,948,998
Ensembl chr 9:44,945,872...44,948,992
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Pam16 |
presequence translocase associated motor 16 |
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ISO |
ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, megarbane-dagher-melki type |
OMIM ClinVar |
PMID:24786642 PMID:27354339 PMID:28492532 |
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NCBI chr10:10,942,534...10,950,654
Ensembl chr10:10,943,001...10,950,649
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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 |
OMIM ClinVar CTD |
PMID:1301198 PMID:9536098 PMID:9683595 PMID:10633133 PMID:11243727 PMID:11544478 PMID:11901270 PMID:12208142 PMID:12507422 PMID:14523039 PMID:14635103 PMID:16115930 PMID:16199547 PMID:16442322 PMID:16542398 PMID:16545979 PMID:17438226 PMID:17576681 PMID:19300440 PMID:19484191 PMID:20018576 PMID:20304328 PMID:21612881 PMID:22437753 PMID:23430864 PMID:23825041 PMID:23926001 PMID:24033266 PMID:25122112 PMID:25246302 PMID:25363768 PMID:25431891 PMID:25558043 PMID:25641190 PMID:25741868 PMID:26220405 PMID:26268900 PMID:26964512 PMID:27056292 PMID:27104484 PMID:27117035 PMID:27815844 PMID:27824329 PMID:27896081 PMID:28186584 PMID:28191889 PMID:28407358 PMID:28492532 PMID:28664505 PMID:29031482 PMID:29895405 PMID:30091983 PMID:30829465 PMID:31117962 PMID:31267348 PMID:32005694 PMID:32093054 PMID:32223457 PMID:32238909 PMID:32348839 PMID:32395407 PMID:32402538 PMID:32887777 PMID:32907636 PMID:33203024 PMID:34882073 More...
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NCBI chr17:40,132,339...40,158,677
Ensembl chr17:40,130,883...40,158,677
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Dcdc2 |
doublecortin domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr17:39,845,952...40,031,781
Ensembl chr17:39,845,952...40,030,743
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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:14635103 PMID:17438226 PMID:23430864 PMID:25246302 PMID:25741868 PMID:27104484 PMID:28492532 PMID:30091983 PMID:31267348 PMID:32402538 PMID:33203024 PMID:34882073 More...
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NCBI chr17:40,084,427...40,132,035
Ensembl chr17:40,084,617...40,126,939
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Mrs2 |
magnesium transporter MRS2 |
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ISO |
ClinVar Annotator: match by term: Succinate-semialdehyde dehydrogenase deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr17:40,063,924...40,087,073
Ensembl chr17:40,063,962...40,081,887
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Tkfc |
triokinase and FMN cyclase |
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ISO |
ClinVar Annotator: match by term: Triokinase and FMN cyclase deficiency syndrome |
ClinVar OMIM |
PMID:25741868 PMID:32004446 |
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NCBI chr 1:207,238,230...207,253,035
Ensembl chr 1:207,236,557...207,252,737
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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:28492532 PMID:30343942 More...
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NCBI chr10:82,682,563...82,694,563
Ensembl chr10:82,683,553...82,693,406
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Qrich1 |
glutamine-rich 1 |
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ISO |
ClinVar Annotator: match by term: Ververi-Brady syndrome |
OMIM ClinVar |
PMID:25741868 PMID:28692176 PMID:30281152 PMID:33009816 PMID:34859529 |
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NCBI chr 8:109,216,900...109,256,472
Ensembl chr 8:109,217,376...109,261,359
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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:28492532 PMID:28513610 PMID:31361404 |
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NCBI chr 5:69,670,085...69,810,729
Ensembl chr 5:69,670,328...69,810,327
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Wls |
Wnt ligand secretion mediator |
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ISO ISS |
ClinVar Annotator: match by term: Zaki syndrome OMIM:619648 |
ClinVar MouseDO OMIM |
PMID:25741868 PMID:34587386 |
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NCBI chr 2:248,931,885...249,047,248
Ensembl chr 2:248,931,903...249,048,298
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