Term: Agenesis of corpus callosum
Accession: HP:0001274
browse the term
Definition: Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.
Synonyms: exact_synonym: Absence of corpus callosum; Absent corpus callosum; Agenesis of the corpus callosum; Callosal agenesis; Corpus callosum agenesis; Dysplastic or absent corpus callosum
alt_id: HP:0006800
xref: Fyler:4321; MESH:D061085 ; SNOMEDCT_US:5102002; UMLS:C0175754
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ABAT
4-aminobutyrate aminotransferase
IAGP
HPO
OMIM:613163
NCBI chr16:8,674,617...8,784,570
Ensembl chr16:8,674,596...8,784,575
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ACTB
actin beta
IAGP
HPO
OMIM:243310
NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902
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ACTG1
actin gamma 1
IAGP
HPO
OMIM:614583
NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847
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ADAT3
adenosine deaminase tRNA specific 3
IAGP
HPO
OMIM:615286 ORPHA:363528
NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447
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ADNP
activity dependent neuroprotector homeobox
IAGP
ClinVar Annotator: match by term: Corpus callosum agenesis
ClinVar
PMID:24531329 PMID:25741868 PMID:27031564 PMID:28135719 PMID:28221363 PMID:28492532 PMID:29475819 PMID:29724491 PMID:29911927 More...
NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
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AHI1
Abelson helper integration site 1
IAGP
HPO
ORPHA:220493
NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434
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ALX1
ALX homeobox 1
IAGP
HPO
ORPHA:306542
NCBI chr12:85,280,220...85,301,784
Ensembl chr12:85,280,220...85,301,784
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ALX3
ALX homeobox 3
IAGP
HPO
OMIM:136760
NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672
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ALX4
ALX homeobox 4
IAGP
HPO
ORPHA:228390
NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139
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ANKLE2
ankyrin repeat and LEM domain containing 2
IAGP
HPO
OMIM:616681 ORPHA:2512
NCBI chr12:132,725,503...132,761,832
Ensembl chr12:132,725,503...132,761,832
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AP1G1
adaptor related protein complex 1 subunit gamma 1
IAGP
HPO
OMIM:619548
NCBI chr16:71,729,000...71,808,834
Ensembl chr16:71,729,000...71,809,201
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ARID1A
AT-rich interaction domain 1A
IAGP
HPO
ORPHA:1465
NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
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ARID1B
AT-rich interaction domain 1B
IAGP
ClinVar Annotator: match by term: Corpus callosum agenesis
ClinVar HPO
PMID:25741868 PMID:30349098 PMID:34706719
ORPHA:1465 ORPHA:251056
NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
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ARID2
AT-rich interaction domain 2
IAGP
HPO
ORPHA:1465
NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040
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ARMC9
armadillo repeat containing 9
IAGP
ClinVar Annotator: match by term: Corpus callosum, agenesis of
ClinVar HPO
PMID:25741868 PMID:28492532
OMIM:617622
NCBI chr 2:231,198,631...231,376,848
Ensembl chr 2:231,198,546...231,376,848
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ARNT2
aryl hydrocarbon receptor nuclear translocator 2
IAGP
HPO
ORPHA:3157
NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933
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ARX
aristaless related homeobox
IAGP
ClinVar Annotator: match by term: Corpus callosum, agenesis of
ClinVar HPO
PMID:25741868
OMIM:300004 OMIM:300215 ORPHA:2508 ORPHA:452
NCBI chr X:25,003,694...25,015,965
Ensembl chr X:25,003,694...25,016,420
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ASPM
assembly factor for spindle microtubules
IAGP
HPO
OMIM:608716 ORPHA:2512
NCBI chr 1:197,084,127...197,146,669
Ensembl chr 1:197,084,121...197,146,694
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ASXL1
ASXL transcriptional regulator 1
IAGP
HPO
OMIM:605039 ORPHA:97297
NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319
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ATRX
ATRX chromatin remodeler
IAGP
HPO
ORPHA:847
NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233
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AUTS2
activator of transcription and developmental regulator AUTS2
IAGP
ClinVar Annotator: match by term: Corpus callosum, agenesis of
ClinVar
PMID:31474318
NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506
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B3GALNT2
beta-1,3-N-acetylgalactosaminyltransferase 2
IAGP
HPO
ORPHA:899
NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452
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B3GLCT
beta 3-glucosyltransferase
IAGP
HPO
OMIM:261540
NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
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B4GAT1
beta-1,4-glucuronyltransferase 1
IAGP
HPO
OMIM:615287 ORPHA:899
NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629
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BCL11A
BCL11 transcription factor A
IAGP
ClinVar Annotator: match by term: Corpus callosum, agenesis of
ClinVar
PMID:31474318
NCBI chr 2:60,450,520...60,553,924
Ensembl chr 2:60,450,520...60,554,467
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BCL11B
BCL11 transcription factor B
IAGP
HPO
OMIM:617237
NCBI chr14:99,169,287...99,272,197
Ensembl chr14:99,169,287...99,272,197
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BMP4
bone morphogenetic protein 4
IAGP
HPO
ORPHA:139471
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
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BORCS5
BLOC-1 related complex subunit 5
IAGP
ClinVar Annotator: match by term: Corpus callosum, agenesis of
ClinVar
NCBI chr12:12,357,078...12,471,233
Ensembl chr12:12,357,078...12,471,233
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BUB1B
BUB1 mitotic checkpoint serine/threonine kinase B
IAGP
HPO
OMIM:257300
NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123
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C12orf57
chromosome 12 open reading frame 57
IAGP
HPO
OMIM:218340
NCBI chr12:6,943,433...6,946,003
Ensembl chr12:6,942,978...6,946,003
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C2CD3
C2 domain containing 3 centriole elongation regulator
IAGP
ClinVar Annotator: match by term: Corpus callosum, agenesis of
ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210
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CAMSAP1
calmodulin regulated spectrin associated protein 1
IAGP
HPO
OMIM:620316
NCBI chr 9:135,808,487...135,907,546
Ensembl chr 9:135,808,487...135,907,546
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CASZ1
castor zinc finger 1
IAGP
HPO
ORPHA:1606
NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650
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CC2D2A
coiled-coil and C2 domain containing 2A
IAGP
HPO
OMIM:619111
NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552
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CDC40
cell division cycle 40
IAGP
HPO
OMIM:619302
NCBI chr 6:110,180,427...110,232,232
Ensembl chr 6:110,180,141...110,254,275
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CDC42BPB
CDC42 binding protein kinase beta
IAGP
HPO
OMIM:619841
NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549
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CDH2
cadherin 2
IAGP
ClinVar Annotator: match by term: Corpus callosum agenesis ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar Annotator: match by term: Dysplastic or absent corpus callosum
ClinVar HPO
PMID:25741868 PMID:31585109
OMIM:618929
NCBI chr18:27,932,879...28,177,130
Ensembl chr18:27,932,879...28,177,946
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CDK13
cyclin dependent kinase 13
IAGP
HPO
OMIM:617360
NCBI chr 7:39,950,256...40,099,580
Ensembl chr 7:39,950,121...40,099,580
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CDK5
cyclin dependent kinase 5
IAGP
HPO
OMIM:616342
NCBI chr 7:151,053,815...151,057,897
Ensembl chr 7:151,053,815...151,057,897
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CDK5RAP2
CDK5 regulatory subunit associated protein 2
IAGP
DNA:nonsense mutation:exon: c.4441C>T (p.R1481X)(human)
HPO RGD
PMID:23587236
ORPHA:2512 , RGD:11057920
NCBI chr 9:120,388,875...120,580,167
Ensembl chr 9:120,388,875...120,580,170
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CDK6
cyclin dependent kinase 6
IAGP
HPO
ORPHA:2512
NCBI chr 7:92,604,921...92,836,573
Ensembl chr 7:92,604,921...92,836,573
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CDK8
cyclin dependent kinase 8
IAGP
HPO
OMIM:618748
NCBI chr13:26,254,129...26,405,238
Ensembl chr13:26,254,104...26,420,982
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CDON
cell adhesion associated, oncogene regulated
IAGP
HPO
OMIM:614226 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926
NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335
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CENPE
centromere protein E
IAGP
HPO
ORPHA:2512
NCBI chr 4:103,105,811...103,198,343
Ensembl chr 4:103,105,349...103,198,445
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CENPF
centromere protein F
IAGP
HPO
OMIM:243605
NCBI chr 1:214,603,195...214,664,571
Ensembl chr 1:214,603,185...214,664,574
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CENPJ
centromere protein J
IAGP
HPO
ORPHA:2512
NCBI chr13:24,882,279...24,934,000
Ensembl chr13:24,882,279...24,922,889
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CEP120
centrosomal protein 120
IAGP
HPO
ORPHA:220493
NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592
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CEP135
centrosomal protein 135
IAGP
HPO
ORPHA:2512
NCBI chr 4:55,948,945...56,033,361
Ensembl chr 4:55,948,871...56,033,361
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CEP152
centrosomal protein 152
IAGP
HPO
ORPHA:2512
NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146
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CEP41
centrosomal protein 41
IAGP
HPO
ORPHA:220493
NCBI chr 7:130,393,771...130,441,741
Ensembl chr 7:130,393,771...130,442,433
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CEP63
centrosomal protein 63
IAGP
HPO
ORPHA:2512
NCBI chr 3:134,485,724...134,782,559
Ensembl chr 3:134,485,699...134,587,789
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CFC1
cryptic, EGF-CFC family member 1
IAGP
HPO
OMIM:605376
NCBI chr 2:130,592,165...130,599,575
Ensembl chr 2:130,592,165...130,599,575
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CHRND
cholinergic receptor nicotinic delta subunit
IAGP
ClinVar Annotator: match by term: Corpus callosum agenesis
ClinVar
PMID:16916845 PMID:26197979
NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667
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CILK1
ciliogenesis associated kinase 1
IAGP
HPO
OMIM:612651
NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824
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CIT
citron rho-interacting serine/threonine kinase
IAGP
HPO
OMIM:617090 ORPHA:2512
NCBI chr12:119,685,791...119,877,320
Ensembl chr12:119,685,791...119,877,320
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CLCN3
chloride voltage-gated channel 3
IAGP
HPO
OMIM:619512
NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673
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CLN5
CLN5 intracellular trafficking protein
IAGP
HPO
ORPHA:168486
NCBI chr13:76,992,081...77,005,117
Ensembl chr13:76,990,660...77,019,143
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CNOT1
CCR4-NOT transcription complex subunit 1
IAGP
HPO
OMIM:618500 ORPHA:556955
NCBI chr16:58,519,951...58,629,826
Ensembl chr16:58,519,951...58,629,885
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COL4A1
collagen type IV alpha 1 chain
IAGP
ClinVar Annotator: match by term: Corpus callosum, agenesis of
ClinVar HPO
PMID:16199547 PMID:23225343 PMID:25741868 PMID:28492532
ORPHA:899
NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202
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COPB2
COPI coat complex subunit beta 2
IAGP
HPO
ORPHA:2512
NCBI chr 3:139,357,406...139,389,680
Ensembl chr 3:139,353,946...139,389,736
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COX7B
cytochrome c oxidase subunit 7B
IAGP
HPO
OMIM:300887 OMIM:309801 ORPHA:2556
NCBI chr X:77,899,468...77,907,376
Ensembl chr X:77,899,440...77,907,376
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CPLANE1
ciliogenesis and planar polarity effector complex subunit 1
IAGP
HPO
OMIM:277170
NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376
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CPLX1
complexin 1
IAGP
HPO
OMIM:194190 ORPHA:280
NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
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CPT2
carnitine palmitoyltransferase 2
IAGP
HPO
OMIM:608836 ORPHA:228308
NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
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CREBBP
CREB binding protein
IAGP
ClinVar Annotator: match by term: Corpus callosum agenesis
ClinVar HPO
PMID:12070251 PMID:12114483 PMID:16359492 PMID:17052327 PMID:20689175 PMID:25741868 PMID:32170002 PMID:32827181 More...
OMIM:180849
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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CRIPTO
cripto, EGF-CFC family member
IAGP
HPO
ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926
NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457
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CRPPA
CDP-L-ribitol pyrophosphorylase A
IAGP
HPO
ORPHA:899
NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
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CSF1R
colony stimulating factor 1 receptor
IAGP
HPO
OMIM:618476
NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
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CTBP1
C-terminal binding protein 1
IAGP
HPO
OMIM:194190 ORPHA:280
NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
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CTSD
cathepsin D
IAGP
HPO
ORPHA:168486
NCBI chr11:1,752,755...1,763,927
Ensembl chr11:1,752,752...1,764,573
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CTU2
cytosolic thiouridylase subunit 2
IAGP
HPO
OMIM:618142
NCBI chr16:88,706,503...88,715,396
Ensembl chr16:88,706,483...88,715,396
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CWF19L1
CWF19 like cell cycle control factor 1
IAGP
HPO
ORPHA:453521
NCBI chr10:100,232,298...100,267,638
Ensembl chr10:100,232,298...100,267,680
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CYP11A1
cytochrome P450 family 11 subfamily A member 1
IAGP
HPO
ORPHA:168558 ORPHA:289548
NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646
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DACT1
dishevelled binding antagonist of beta catenin 1
IAGP
HPO
ORPHA:857
NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321
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DAG1
dystroglycan 1
IAGP
HPO
ORPHA:899
NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618
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DCC
DCC netrin 1 receptor
IAGP
ClinVar Annotator: match by term: Dysplastic or absent corpus callosum ClinVar Annotator: match by term: Corpus callosum agenesis ClinVar Annotator: match by term: Corpus callosum, agenesis of
ClinVar HPO
PMID:24808016 PMID:28250454 PMID:31589614 PMID:35246524 PMID:36123965
OMIM:157600 OMIM:617542 ORPHA:238722
NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899
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DCHS1
dachsous cadherin-related 1
IAGP
HPO
ORPHA:314679
NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809
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DCX
doublecortin
IAGP
HPO
OMIM:300067
NCBI chr X:111,293,779...111,412,192
Ensembl chr X:111,293,779...111,412,429
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DDX3X
DEAD-box helicase 3 X-linked
IAGP
HPO
ORPHA:3338
NCBI chr X:41,333,308...41,364,472
Ensembl chr X:41,333,348...41,364,472
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DDX59
DEAD-box helicase 59
IAGP
HPO
OMIM:174300 ORPHA:2919
NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907
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DHCR24
24-dehydrocholesterol reductase
IAGP
HPO
ORPHA:35107
NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195
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DHX16
DEAH-box helicase 16
IAGP
ClinVar Annotator: match by term: Dysplastic or absent corpus callosum
ClinVar HPO
PMID:31256877
OMIM:618733
NCBI chr 6:30,653,127...30,673,006
Ensembl chr 6:30,653,119...30,673,006
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DIS3L2
DIS3 like 3'-5' exoribonuclease 2
IAGP
HPO
OMIM:267000
NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350
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DISC1
DISC1 scaffold protein
IAGP
HPO
ORPHA:171703
NCBI chr 1:231,626,790...232,041,272
Ensembl chr 1:231,626,790...232,041,272
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DISP1
dispatched RND transporter family member 1
IAGP
HPO
ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926
NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995
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DLL1
delta like canonical Notch ligand 1
IAGP
HPO
ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926
NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565
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DNAJC5
DnaJ heat shock protein family (Hsp40) member C5
IAGP
HPO
ORPHA:168486
NCBI chr20:63,895,126...63,936,011
Ensembl chr20:63,895,126...63,936,031
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DNAL4
dynein axonemal light chain 4
IAGP
HPO
ORPHA:238722
NCBI chr22:38,778,508...38,794,143
Ensembl chr22:38,778,508...38,794,198
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DNM1
dynamin 1
IAGP
HPO
OMIM:620352
NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248
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DPF2
double PHD fingers 2
IAGP
HPO
ORPHA:1465
NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262
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DPH1
diphthamide biosynthesis 1
IAGP
HPO
ORPHA:459061
NCBI chr17:2,030,112...2,043,898
Ensembl chr17:2,030,137...2,043,898
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DPH2
diphthamide biosynthesis 2
IAGP
HPO
ORPHA:459061
NCBI chr 1:43,970,010...43,973,369
Ensembl chr 1:43,970,000...43,973,369
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DPYD
dihydropyrimidine dehydrogenase
IAGP
HPO
OMIM:274270
NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
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DPYSL5
dihydropyrimidinase like 5
IAGP
HPO
OMIM:619435
NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351
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DYNC1I2
dynein cytoplasmic 1 intermediate chain 2
IAGP
HPO
OMIM:618492
NCBI chr 2:171,687,469...171,750,158
Ensembl chr 2:171,687,409...171,750,158
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DYNC2H1
dynein cytoplasmic 2 heavy chain 1
IAGP
HPO
OMIM:613091 ORPHA:93271
NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
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DYNC2I1
dynein 2 intermediate chain 1
IAGP
HPO
ORPHA:93271
NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747
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DYNC2I2
dynein 2 intermediate chain 2
IAGP
HPO
ORPHA:93271
NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847
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EARS2
glutamyl-tRNA synthetase 2, mitochondrial
IAGP
HPO
OMIM:614924
NCBI chr16:23,520,754...23,557,375
Ensembl chr16:23,520,754...23,557,731
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EFNB1
ephrin B1
IAGP
HPO
OMIM:304110
NCBI chr X:68,829,021...68,842,160
Ensembl chr X:68,829,021...68,842,160
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EHMT1
euchromatic histone lysine methyltransferase 1
IAGP
HPO
ORPHA:96147
NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016
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EML1
EMAP like 1
IAGP
HPO
OMIM:600348
NCBI chr14:99,737,722...99,942,060
Ensembl chr14:99,737,693...99,942,060
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EMX2
empty spiracles homeobox 2
IAGP
HPO
OMIM:269160
NCBI chr10:117,542,746...117,549,546
Ensembl chr10:117,542,445...117,549,546
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EOMES
eomesodermin
IAGP
HPO
ORPHA:171703
NCBI chr 3:27,715,953...27,722,713
Ensembl chr 3:27,715,949...27,722,711
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EP300
E1A binding protein p300
IAGP
ClinVar Annotator: match by term: Corpus callosum, agenesis of
ClinVar HPO
PMID:25741868
OMIM:180849
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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EPG5
ectopic P-granules 5 autophagy tethering factor
IAGP
HPO
OMIM:242840 ORPHA:1493
NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329
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ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit
IAGP
ClinVar Annotator: match by term: Corpus callosum, agenesis of
ClinVar
PMID:25741868 PMID:28492532
NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
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ERCC5
ERCC excision repair 5, endonuclease
IAGP
HPO
OMIM:616570
NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995
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ERCC6
ERCC excision repair 6, chromatin remodeling factor
IAGP
HPO
OMIM:214150
NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
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FANCD2
FA complementation group D2
IAGP
HPO
OMIM:227646
NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
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FANCI
FA complementation group I
IAGP
HPO
OMIM:609053
NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
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FAT4
FAT atypical cadherin 4
IAGP
HPO
ORPHA:314679
NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
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FCSK
fucose kinase
IAGP
HPO
OMIM:618324
NCBI chr16:70,454,595...70,480,274
Ensembl chr16:70,454,595...70,480,274
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FGF8
fibroblast growth factor 8
IAGP
HPO
ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926
NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
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FGFR1
fibroblast growth factor receptor 1
IAGP
HPO
OMIM:147950 OMIM:613001 OMIM:615465 ORPHA:220386 ORPHA:2396 ORPHA:280200 ORPHA:3157 ORPHA:93924
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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FGFR2
fibroblast growth factor receptor 2
IAGP
HPO
OMIM:101200 OMIM:123790 ORPHA:87
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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FGFRL1
fibroblast growth factor receptor like 1
IAGP
HPO
OMIM:194190
NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898
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FH
fumarate hydratase
IAGP
HPO
OMIM:606812
NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799
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FIG4
FIG4 phosphoinositide 5-phosphatase
IAGP
HPO
OMIM:216340 ORPHA:3472
NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
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FKRP
fukutin related protein
IAGP
HPO
OMIM:236670 OMIM:613153 ORPHA:370959 ORPHA:899
NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988
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FKTN
fukutin
IAGP
HPO
OMIM:236670 OMIM:253800 ORPHA:899
NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820
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FLI1
Fli-1 proto-oncogene, ETS transcription factor
IAGP
HPO
ORPHA:2308
NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267
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FLVCR2
FLVCR choline and putative heme transporter 2
IAGP
HPO
OMIM:225790
NCBI chr14:75,578,620...75,648,167
Ensembl chr14:75,578,620...75,663,214
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FOXA2
forkhead box A2
IAGP
HPO
ORPHA:95494
NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455
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FOXG1
forkhead box G1
IAGP
HPO
ORPHA:261144
NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,764,329...28,770,277
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FOXH1
forkhead box H1
IAGP
HPO
ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926
NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849
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FRA10AC1
FRA10A associated CGG repeat 1
IAGP
HPO
OMIM:620113
NCBI chr10:93,667,883...93,702,959
Ensembl chr10:93,667,883...93,702,592
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FRMD4A
FERM domain containing 4A
IAGP
HPO
ORPHA:466688
NCBI chr10:13,643,706...14,330,924
Ensembl chr10:13,643,706...14,462,142
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FZD3
frizzled class receptor 3
IAGP
ClinVar Annotator: match by term: Corpus callosum, agenesis of
ClinVar
PMID:31474318
NCBI chr 8:28,494,212...28,574,258
Ensembl chr 8:28,494,205...28,574,267
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GABRD
gamma-aminobutyric acid type A receptor subunit delta
IAGP
HPO
ORPHA:1606
NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758
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GAS1
growth arrest specific 1
IAGP
HPO
ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926
NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506
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GDF1
growth differentiation factor 1
IAGP
HPO
OMIM:208530
NCBI chr19:18,868,545...18,896,158
Ensembl chr19:18,868,545...18,896,158
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GET4
guided entry of tail-anchored proteins factor 4
IAGP
HPO
OMIM:620200
NCBI chr 7:876,554...896,436
Ensembl chr 7:876,554...896,436
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GGT1
gamma-glutamyltransferase 1
IAGP
HPO
OMIM:231950
NCBI chr22:24,583,750...24,628,996
Ensembl chr22:24,594,811...24,629,005
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GLDC
glycine decarboxylase
IAGP
HPO
OMIM:605899
NCBI chr 9:6,532,467...6,645,729
Ensembl chr 9:6,532,467...6,645,729
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GLI2
GLI family zinc finger 2
IAGP
HPO
ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 ORPHA:95494
NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
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GLI3
GLI family zinc finger 3
IAGP
HPO
OMIM:175700 ORPHA:380
NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
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GMPPB
GDP-mannose pyrophosphorylase B
IAGP
HPO
ORPHA:370959
NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973
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GPC3
glypican 3
IAGP
HPO
OMIM:312870 ORPHA:373
NCBI chr X:133,535,745...133,985,594
Ensembl chr X:133,535,745...133,987,100
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GPC4
glypican 4
IAGP
HPO
OMIM:312870 ORPHA:373
NCBI chr X:133,300,103...133,415,489
Ensembl chr X:133,300,103...133,415,489
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GPX4
glutathione peroxidase 4
IAGP
HPO
ORPHA:93317
NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,982...1,106,791
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GRN
granulin precursor
IAGP
HPO
ORPHA:168486
NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106
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H3-3A
H3.3 histone A
IAGP
HPO
OMIM:619720
NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019
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HCCS
holocytochrome c synthase
IAGP
HPO
OMIM:309801 ORPHA:2556
NCBI chr X:11,111,332...11,123,086
Ensembl chr X:11,111,301...11,123,086
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HECTD4
HECT domain E3 ubiquitin protein ligase 4
IAGP
HPO
OMIM:620250
NCBI chr12:112,160,195...112,382,431
Ensembl chr12:112,160,188...112,382,439
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HESX1
HESX homeobox 1
IAGP
HPO
OMIM:182230 ORPHA:226307 ORPHA:3157 ORPHA:95494
NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
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HIBCH
3-hydroxyisobutyryl-CoA hydrolase
IAGP
HPO
OMIM:250620
NCBI chr 2:190,189,735...190,319,826
Ensembl chr 2:190,189,735...190,344,193
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HNRNPK
heterogeneous nuclear ribonucleoprotein K
IAGP
HPO
ORPHA:352665 ORPHA:453504
NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631
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HNRNPR
heterogeneous nuclear ribonucleoprotein R
IAGP
HPO
OMIM:620073
NCBI chr 1:23,304,688...23,344,284
Ensembl chr 1:23,303,771...23,344,336
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HNRNPU
heterogeneous nuclear ribonucleoprotein U
IAGP
HPO
ORPHA:238769
NCBI chr 1:244,850,297...244,864,543
Ensembl chr 1:244,840,638...244,864,560
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HS2ST1
heparan sulfate 2-O-sulfotransferase 1
IAGP
HPO
OMIM:619194
NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982
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HSPA9
heat shock protein family A (Hsp70) member 9
IAGP
HPO
OMIM:616854
NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675
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HSPG2
heparan sulfate proteoglycan 2
IAGP
HPO
ORPHA:1606
NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
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HYLS1
HYLS1 centriolar and ciliogenesis associated
IAGP
HPO
OMIM:236680 ORPHA:2189
NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646
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IFT80
intraflagellar transport 80
IAGP
HPO
ORPHA:93271
NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
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IGBP1
immunoglobulin binding protein 1
IAGP
HPO
OMIM:300472 ORPHA:52055
NCBI chr X:70,133,447...70,166,324
Ensembl chr X:70,133,447...70,166,324
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INPP5E
inositol polyphosphate-5-phosphatase E
IAGP
HPO
ORPHA:220493
NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845
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INTS11
integrator complex subunit 11
IAGP
HPO
OMIM:620428
NCBI chr 1:1,311,600...1,324,660
Ensembl chr 1:1,311,585...1,324,687
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KANSL1
KAT8 regulatory NSL complex subunit 1
IAGP
HPO
ORPHA:363958 ORPHA:363965
NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389
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KAT6B
lysine acetyltransferase 6B
IAGP
HPO
OMIM:606170 ORPHA:85201
NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624
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KATNB1
katanin regulatory subunit B1
IAGP
HPO
ORPHA:89844
NCBI chr16:57,735,770...57,757,244
Ensembl chr16:57,735,739...57,757,244
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KCNAB2
potassium voltage-gated channel subfamily A regulatory beta subunit 2
IAGP
HPO
ORPHA:1606
NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193
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KDM4B
lysine demethylase 4B
IAGP
HPO
OMIM:619320
NCBI chr19:4,969,113...5,153,598
Ensembl chr19:4,969,113...5,153,598
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KIAA0753
KIAA0753
IAGP
HPO
OMIM:617127
NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711
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KIDINS220
kinase D interacting substrate 220
IAGP
HPO
OMIM:619501
NCBI chr 2:8,721,081...8,837,613
Ensembl chr 2:8,721,081...8,837,630
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KIF14
kinesin family member 14
IAGP
HPO
OMIM:616258 OMIM:617914 ORPHA:2512
NCBI chr 1:200,551,497...200,620,751
Ensembl chr 1:200,551,497...200,620,751
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KIF15
kinesin family member 15
IAGP
HPO
ORPHA:261323
NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376
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KIF26A
kinesin family member 26A
IAGP
HPO
OMIM:620156
NCBI chr14:104,138,587...104,180,894
Ensembl chr14:104,136,454...104,180,894
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KIF4A
kinesin family member 4A
IAGP
ClinVar Annotator: match by term: Corpus callosum, agenesis of
ClinVar
PMID:31474318
NCBI chr X:70,290,104...70,420,886
Ensembl chr X:70,290,104...70,420,886
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KIF7
kinesin family member 7
IAGP
DNA:missense,frameshift mutations:cds:
HPO RGD
PMID:21552264
OMIM:200990 OMIM:607131 OMIM:614120 ORPHA:166024 ORPHA:2189 , RGD:11068757
NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086
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KNL1
kinetochore scaffold 1
IAGP
HPO
ORPHA:2512
NCBI chr15:40,594,249...40,664,342
Ensembl chr15:40,594,020...40,664,342
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KRAS
KRAS proto-oncogene, GTPase
IAGP
HPO
ORPHA:2396 ORPHA:3339
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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L1CAM
L1 cell adhesion molecule
IAGP
HPO
OMIM:303350 OMIM:307000 ORPHA:2182 ORPHA:2466
NCBI chr X:153,861,514...153,886,173
Ensembl chr X:153,861,514...153,886,173
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LARGE1
LARGE xylosyl- and glucuronyltransferase 1
IAGP
HPO
OMIM:236670 ORPHA:899
NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841
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LETM1
leucine zipper and EF-hand containing transmembrane protein 1
IAGP
HPO
OMIM:194190 ORPHA:280
NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
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LHX3
LIM homeobox 3
IAGP
HPO
ORPHA:226307
NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128
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LHX4
LIM homeobox 4
IAGP
HPO
ORPHA:226307 ORPHA:95494
NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984
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LMNB2
lamin B2
IAGP
HPO
OMIM:616540
NCBI chr19:2,428,166...2,456,959
Ensembl chr19:2,427,638...2,456,959
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LOC121392929
Sharpr-MPRA regulatory region 9619
IAGP
ClinVar Annotator: match by term: Corpus callosum, agenesis of
ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:74,138,624...74,138,918
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LOC126805688
BRD4-independent group 4 enhancer GRCh37_chr1:33251929-33253128
IAGP
ClinVar Annotator: match by term: Corpus callosum agenesis
ClinVar
PMID:29232904
NCBI chr 1:32,786,328...32,787,527
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LONP1
lon peptidase 1, mitochondrial
IAGP
HPO
ORPHA:79243
NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
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LRP2
LDL receptor related protein 2
IAGP
HPO
OMIM:222448
NCBI chr 2:169,127,109...169,362,534
Ensembl chr 2:169,127,109...169,362,534
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LUZP1
leucine zipper protein 1
IAGP
HPO
ORPHA:1606
NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,178,152
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MBTPS2
membrane bound transcription factor peptidase, site 2
IAGP
HPO
ORPHA:2273
NCBI chr X:21,839,617...21,885,423
Ensembl chr X:21,839,617...21,885,423
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MCM7
minichromosome maintenance complex component 7
IAGP
HPO
ORPHA:2512
NCBI chr 7:100,092,728...100,101,397
Ensembl chr 7:100,092,233...100,101,940
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MCPH1
microcephalin 1
IAGP
HPO
ORPHA:2512
NCBI chr 8:6,406,627...6,648,508
Ensembl chr 8:6,406,592...6,648,508
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MED12
mediator complex subunit 12
IAGP
ClinVar Annotator: match by term: Corpus callosum agenesis
ClinVar HPO
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...
OMIM:309520
NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
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MED12L
mediator complex subunit 12L
IAGP
HPO
OMIM:618872
NCBI chr 3:151,085,664...151,436,653
Ensembl chr 3:151,085,286...151,437,072
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MED25
mediator complex subunit 25
IAGP
HPO
OMIM:616449 ORPHA:464738
NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383
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METTL5
methyltransferase 5, N6-adenosine
IAGP
HPO
ORPHA:2512
NCBI chr 2:169,811,757...169,824,905
Ensembl chr 2:169,810,081...169,824,931
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MFSD2A
MFSD2 lysolipid transporter A, lysophospholipid
IAGP
HPO
ORPHA:2512
NCBI chr 1:39,955,145...39,969,956
Ensembl chr 1:39,955,112...39,969,968
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MID1
midline 1
IAGP
HPO
OMIM:300000 ORPHA:2745
NCBI chr X:10,445,310...10,833,683
Ensembl chr X:10,445,310...10,833,654
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MKS1
MKS transition zone complex subunit 1
IAGP
HPO
OMIM:249000 ORPHA:220493
NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
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MLH1
mutL homolog 1
IAGP
HPO
OMIM:276300
NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896
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MMP23B
matrix metallopeptidase 23B
IAGP
HPO
ORPHA:1606
NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263
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MPDZ
multiple PDZ domain crumbs cell polarity complex component
IAGP
HPO
OMIM:615219
NCBI chr 9:13,105,707...13,279,692
Ensembl chr 9:13,105,706...13,279,692
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MRPS16
mitochondrial ribosomal protein S16
IAGP
HPO
OMIM:610498
NCBI chr10:73,248,849...73,252,644
Ensembl chr10:73,248,843...73,252,693
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MT-CO1
mitochondrially encoded cytochrome c oxidase I
IAGP
HPO
ORPHA:550
NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445
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MT-CO2
mitochondrially encoded cytochrome c oxidase II
IAGP
HPO
ORPHA:550
NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269
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MT-CO3
mitochondrially encoded cytochrome c oxidase III
IAGP
HPO
ORPHA:550
NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990
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MT-CYB
mitochondrially encoded cytochrome b
IAGP
HPO
ORPHA:137675
NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887
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MT-ND1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
IAGP
HPO
ORPHA:550
NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
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MT-ND4
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
IAGP
HPO
ORPHA:550
NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137
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MT-ND5
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
IAGP
HPO
ORPHA:550
NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148
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MT-ND6
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
IAGP
HPO
ORPHA:550
NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673
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MT-TF
mitochondrially encoded tRNA-Phe (UUU/C)
IAGP
HPO
ORPHA:550
NCBI chr MT:577...647
Ensembl chr MT:577...647
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MT-TH
mitochondrially encoded tRNA-His (CAU/C)
IAGP
HPO
ORPHA:550
NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206
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MT-TL1
mitochondrially encoded tRNA-Leu (UUA/G) 1
IAGP
HPO
ORPHA:550
NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304
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MT-TQ
mitochondrially encoded tRNA-Gln (CAA/G)
IAGP
HPO
ORPHA:550
NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400
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MT-TS1
mitochondrially encoded tRNA-Ser (UCN) 1
IAGP
HPO
ORPHA:550
NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514
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MT-TS2
mitochondrially encoded tRNA-Ser (AGU/C) 2
IAGP
HPO
ORPHA:550
NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265
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MT-TW
mitochondrially encoded tRNA-Trp (UGA/G)
IAGP
HPO
ORPHA:550
NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579
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MTHFR
methylenetetrahydrofolate reductase
IAGP
HPO
ORPHA:563612
NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
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NARS2
asparaginyl-tRNA synthetase 2, mitochondrial
IAGP
HPO
OMIM:616239
NCBI chr11:78,435,968...78,574,864
Ensembl chr11:78,435,620...78,575,194
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NCAPD3
non-SMC condensin II complex subunit D3
IAGP
HPO
ORPHA:2512
NCBI chr11:134,150,113...134,225,461
Ensembl chr11:134,150,113...134,225,504
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NDE1
nudE neurodevelopment protein 1
IAGP
HPO
OMIM:605013 OMIM:614019 ORPHA:89844
NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691
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NDUFAF5
NADH:ubiquinone oxidoreductase complex assembly factor 5
IAGP
HPO
OMIM:618238
NCBI chr20:13,785,028...13,821,580
Ensembl chr20:13,785,007...13,821,580
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NDUFB11
NADH:ubiquinone oxidoreductase subunit B11
IAGP
HPO
OMIM:300952 OMIM:309801 ORPHA:2556
NCBI chr X:47,142,216...47,145,491
Ensembl chr X:47,142,071...47,145,466
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NELFA
negative elongation factor complex member A
IAGP
HPO
ORPHA:280
NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903
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NFIA
nuclear factor I A
IAGP
HPO
OMIM:613735
NCBI chr 1:61,077,227...61,462,788
Ensembl chr 1:60,865,259...61,462,788
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NFIB
nuclear factor I B
IAGP
HPO
OMIM:618286
NCBI chr 9:14,081,843...14,532,077
Ensembl chr 9:14,081,843...14,398,983
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NFIX
nuclear factor I X
IAGP
HPO
OMIM:602535
NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
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NKX2-1
NK2 homeobox 1
IAGP
HPO
ORPHA:209905
NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
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NODAL
nodal growth differentiation factor
IAGP
HPO
ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926
NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
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NPHP1
nephrocystin 1
IAGP
HPO
ORPHA:220497
NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066
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NSD2
nuclear receptor binding SET domain protein 2
IAGP
HPO
OMIM:194190 ORPHA:280
NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
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NTN1
netrin 1
IAGP
HPO
ORPHA:238722
NCBI chr17:9,003,087...9,244,000
Ensembl chr17:9,021,510...9,244,000
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NUP37
nucleoporin 37
IAGP
HPO
ORPHA:2512
NCBI chr12:102,073,103...102,120,114
Ensembl chr12:102,073,103...102,120,120
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OFD1
OFD1 centriole and centriolar satellite protein
IAGP
HPO
OMIM:311200 ORPHA:2750
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
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OSTM1
osteoclastogenesis associated transmembrane protein 1
IAGP
HPO
ORPHA:85179
NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854
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OTUD5
OTU deubiquitinase 5
IAGP
HPO
OMIM:301056
NCBI chr X:48,922,024...48,958,381
Ensembl chr X:48,922,024...48,958,386
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OTX2
orthodenticle homeobox 2
IAGP
HPO
ORPHA:3157 ORPHA:95494 ORPHA:990
NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
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PDHA1
pyruvate dehydrogenase E1 subunit alpha 1
IAGP
HPO
OMIM:312170 ORPHA:79243
NCBI chr X:19,343,927...19,361,718
Ensembl chr X:19,343,893...19,361,718
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PDHB
pyruvate dehydrogenase E1 subunit beta
IAGP
HPO
OMIM:614111 ORPHA:255138
NCBI chr 3:58,427,630...58,433,832
Ensembl chr 3:58,427,630...58,433,857
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PDHX
pyruvate dehydrogenase complex component X
IAGP
HPO
ORPHA:255182
NCBI chr11:34,915,920...34,996,128
Ensembl chr11:34,915,829...35,020,591
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PDPN
podoplanin
IAGP
HPO
ORPHA:1606
NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957
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PDYN
prodynorphin
IAGP
HPO
OMIM:610245
NCBI chr20:1,978,756...1,994,285
Ensembl chr20:1,978,757...1,994,285
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PEX2
peroxisomal biogenesis factor 2
IAGP
HPO
OMIM:614866
NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044
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PGAP1
post-GPI attachment to proteins inositol deacylase 1
IAGP
HPO
OMIM:615802 ORPHA:401820
NCBI chr 2:196,833,004...196,926,707
Ensembl chr 2:196,833,004...196,927,796
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PHC1
polyhomeotic homolog 1
IAGP
HPO
ORPHA:2512
NCBI chr12:8,913,843...8,941,467
Ensembl chr12:8,913,896...8,941,467
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PHGDH
phosphoglycerate dehydrogenase
IAGP
HPO
OMIM:256520
NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218
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PIEZO2
piezo type mechanosensitive ion channel component 2
IAGP
HPO
OMIM:248700 ORPHA:2461
NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569
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PIGG
phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)
IAGP
HPO
ORPHA:280
NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200
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PIGN
phosphatidylinositol glycan anchor biosynthesis class N
IAGP
HPO
ORPHA:2059
NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118
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PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
IAGP
ClinVar Annotator: match by term: Corpus callosum agenesis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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PLCH1
phospholipase C eta 1
IAGP
HPO
ORPHA:93925
NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071
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PLXNA1
plexin A1
IAGP
HPO
OMIM:619955
NCBI chr 3:126,983,115...127,037,389
Ensembl chr 3:126,982,693...127,037,389
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PMS2
PMS1 homolog 2, mismatch repair system component
IAGP
HPO
OMIM:619101
NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130
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POLR2A
RNA polymerase II subunit A
IAGP
HPO
OMIM:618603
NCBI chr17:7,484,366...7,514,616
Ensembl chr17:7,484,366...7,514,616
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POLR3A
RNA polymerase III subunit A
IAGP
HPO
OMIM:264090 ORPHA:3455
NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522
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POMGNT1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
IAGP
HPO
ORPHA:370959 ORPHA:899
NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305
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POMGNT2
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
IAGP
HPO
ORPHA:899
NCBI chr 3:43,079,234...43,106,079
Ensembl chr 3:43,079,229...43,106,085
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POMK
protein O-mannose kinase
IAGP
HPO
OMIM:615249 ORPHA:370959 ORPHA:899
NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180
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POMT1
protein O-mannosyltransferase 1
IAGP
HPO
OMIM:236670 ORPHA:370959 ORPHA:899
NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806
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POMT2
protein O-mannosyltransferase 2
IAGP
HPO
OMIM:236670 OMIM:613150 ORPHA:370959 ORPHA:899
NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
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PORCN
porcupine O-acyltransferase
IAGP
HPO
OMIM:305600
NCBI chr X:48,508,992...48,520,814
Ensembl chr X:48,508,959...48,520,814
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POU1F1
POU class 1 homeobox 1
IAGP
HPO
ORPHA:226307 ORPHA:95494
NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584
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PPIL1
peptidylprolyl isomerase like 1
IAGP
HPO
OMIM:619301
NCBI chr 6:36,854,829...36,874,803
Ensembl chr 6:36,854,827...36,874,803
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PPP1R12A
protein phosphatase 1 regulatory subunit 12A
IAGP
HPO
OMIM:618820
NCBI chr12:79,773,563...79,935,460
Ensembl chr12:79,773,563...79,935,460
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PPP2R1A
protein phosphatase 2 scaffold subunit Aalpha
IAGP
HPO
OMIM:616362 ORPHA:457284
NCBI chr19:52,190,052...52,229,518
Ensembl chr19:52,170,936...52,229,518
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PPP2R3C
protein phosphatase 2 regulatory subunit B''gamma
IAGP
HPO
OMIM:618419
NCBI chr14:35,085,472...35,122,298
Ensembl chr14:35,085,467...35,122,517
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PRDM16
PR/SET domain 16
IAGP
HPO
ORPHA:1606
NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621
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PRKCZ
protein kinase C zeta
IAGP
HPO
ORPHA:1606
NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395
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PROKR2
prokineticin receptor 2
IAGP
HPO
ORPHA:3157
NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954
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PROP1
PROP paired-like homeobox 1
IAGP
HPO
ORPHA:226307 ORPHA:95494
NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242
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PRRX1
paired related homeobox 1
IAGP
HPO
OMIM:202650 ORPHA:990
NCBI chr 1:170,662,768...170,739,421
Ensembl chr 1:170,662,728...170,739,421
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PTCH1
patched 1
IAGP
HPO
OMIM:610828 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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PTDSS1
phosphatidylserine synthase 1
IAGP
HPO
OMIM:151050 ORPHA:2658
NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
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PUF60
poly(U) binding splicing factor 60
IAGP
HPO
ORPHA:508498
NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709
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PYCR1
pyrroline-5-carboxylate reductase 1
IAGP
HPO
OMIM:612940
NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,384...81,942,412
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PYCR2
pyrroline-5-carboxylate reductase 2
IAGP
HPO
ORPHA:2512 ORPHA:481152
NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340
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RAB3GAP1
RAB3 GTPase activating protein catalytic subunit 1
IAGP
HPO
OMIM:600118
NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667
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RAB3GAP2
RAB3 GTPase activating non-catalytic protein subunit 2
IAGP
HPO
ORPHA:401830
NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529
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RAC3
Rac family small GTPase 3
IAGP
HPO
OMIM:618577
NCBI chr17:82,031,678...82,034,204
Ensembl chr17:82,031,678...82,034,204
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RAD51
RAD51 recombinase
IAGP
HPO
ORPHA:238722
NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340
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RECQL4
RecQ like helicase 4
IAGP
HPO
OMIM:218600
NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
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RELN
reelin
IAGP
HPO
ORPHA:89844
NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658
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RERE
arginine-glutamic acid dipeptide repeats
IAGP
HPO
ORPHA:1606
NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921
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RNU4ATAC
RNA, U4atac small nuclear
IAGP
HPO
OMIM:210710
NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
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ROBO1
roundabout guidance receptor 1
IAGP
HPO
OMIM:620305
NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998
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RPGRIP1L
RPGRIP1 like
IAGP
HPO
ORPHA:220497
NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
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RSPO2
R-spondin 2
IAGP
HPO
ORPHA:3301
NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642
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RTTN
rotatin
IAGP
HPO
OMIM:614833 ORPHA:468631
NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726
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RXYLT1
ribitol xylosyltransferase 1
IAGP
HPO
ORPHA:899
NCBI chr12:63,779,909...63,809,562
Ensembl chr12:63,779,833...63,809,792
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SALL1
spalt like transcription factor 1
IAGP
HPO
ORPHA:857
NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334
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SARS1
seryl-tRNA synthetase 1
IAGP
HPO
ORPHA:2512
NCBI chr 1:109,213,893...109,238,182
Ensembl chr 1:109,213,918...109,238,182
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SASS6
SAS-6 centriolar assembly protein
IAGP
HPO
ORPHA:2512
NCBI chr 1:100,083,570...100,132,930
Ensembl chr 1:100,083,563...100,132,955
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SCYL2
SCY1 like pseudokinase 2
IAGP
HPO
OMIM:618766
NCBI chr12:100,267,177...100,341,715
Ensembl chr12:100,267,140...100,341,715
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SEC31A
SEC31 homolog A, COPII coat complex component
IAGP
HPO
OMIM:618651
NCBI chr 4:82,818,509...82,900,569
Ensembl chr 4:82,818,509...82,901,166
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SETD2
SET domain containing 2, histone lysine methyltransferase
IAGP
ClinVar Annotator: match by term: Corpus callosum agenesis
ClinVar
PMID:25741868 PMID:28492532 PMID:29276005 PMID:31474318 PMID:32710489
NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113
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SF3B2
splicing factor 3b subunit 2
IAGP
HPO
OMIM:164210
NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308
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SHANK3
SH3 and multiple ankyrin repeat domains 3
IAGP
HPO
ORPHA:48652
NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,408...50,733,212
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SHH
sonic hedgehog signaling molecule
IAGP
HPO
OMIM:269160 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926
NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
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SIX3
SIX homeobox 3
IAGP
HPO
OMIM:157170 OMIM:269160 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926
NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071
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SIX6
SIX homeobox 6
IAGP
HPO
OMIM:206900
NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850
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SKI
SKI proto-oncogene
IAGP
HPO
ORPHA:1606
NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213
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SLC12A2
solute carrier family 12 member 2
IAGP
HPO
OMIM:619083
NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677
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SLC12A6
solute carrier family 12 member 6
IAGP
HPO
OMIM:218000 ORPHA:1496
NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060
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SLC25A1
solute carrier family 25 member 1
IAGP
HPO
OMIM:618197
NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739
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SLC25A19
solute carrier family 25 member 19
IAGP
HPO
ORPHA:99742
NCBI chr17:75,272,992...75,289,433
Ensembl chr17:75,272,981...75,289,510
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SLC30A9
solute carrier family 30 member 9
IAGP
HPO
OMIM:617595
NCBI chr 4:41,990,530...42,090,461
Ensembl chr 4:41,990,502...42,090,461
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SMARCA4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
IAGP
HPO
OMIM:614609 ORPHA:1465
NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426
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SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
IAGP
HPO
ORPHA:1465
NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
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SMARCC2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2
IAGP
HPO
ORPHA:1465
NCBI chr12:56,162,359...56,189,483
Ensembl chr12:56,162,359...56,189,567
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SMARCD1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1
IAGP
HPO
OMIM:618779 ORPHA:1465
NCBI chr12:50,085,342...50,100,707
Ensembl chr12:50,085,200...50,100,707
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SMARCE1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
IAGP
HPO
ORPHA:1465
NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654
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SMC1A
structural maintenance of chromosomes 1A
IAGP
HPO
ORPHA:220386
NCBI chr X:53,374,149...53,422,728
Ensembl chr X:53,374,149...53,422,728
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SMO
smoothened, frizzled class receptor
IAGP
HPO
OMIM:601707 ORPHA:1553
NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
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SOX11
SRY-box transcription factor 11
IAGP
HPO
ORPHA:1465
NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385
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SOX2
SRY-box transcription factor 2
IAGP
HPO
OMIM:206900 ORPHA:3157 ORPHA:77298
NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
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SOX3
SRY-box transcription factor 3
IAGP
HPO
ORPHA:3157
NCBI chr X:140,502,985...140,505,069
Ensembl chr X:140,502,985...140,505,069
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SOX4
SRY-box transcription factor 4
IAGP
HPO
ORPHA:1465
NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619
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SPEN
spen family transcriptional repressor
IAGP
HPO
OMIM:619312 ORPHA:1606
NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456
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SPG11
SPG11 vesicle trafficking associated, spatacsin
IAGP
HPO
OMIM:604360
NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688
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STAG2
STAG2 cohesin complex component
IAGP
HPO
OMIM:301043 ORPHA:220386 ORPHA:93925
NCBI chr X:123,960,560...124,102,656
Ensembl chr X:123,960,212...124,422,664
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STIL
STIL centriolar assembly protein
IAGP
HPO
ORPHA:220386 ORPHA:2512 ORPHA:93924 ORPHA:93925 ORPHA:93926
NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892
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SUFU
SUFU negative regulator of hedgehog signaling
IAGP
HPO
ORPHA:280200
NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
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SUZ12
SUZ12 polycomb repressive complex 2 subunit
IAGP
HPO
OMIM:618786
NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,038
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TAF13
TATA-box binding protein associated factor 13
IAGP
HPO
ORPHA:2512
NCBI chr 1:109,064,140...109,076,003
Ensembl chr 1:109,062,496...109,076,012
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TBC1D23
TBC1 domain family member 23
IAGP
HPO
OMIM:617695
NCBI chr 3:100,260,992...100,325,238
Ensembl chr 3:100,260,992...100,325,251
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TCTN3
tectonic family member 3
IAGP
HPO
OMIM:614815
NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
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TGIF1
TGFB induced factor homeobox 1
IAGP
HPO
ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926
NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978
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THUMPD1
THUMP domain containing 1
IAGP
HPO
OMIM:619989
NCBI chr16:20,733,664...20,741,818
Ensembl chr16:20,702,816...20,742,084
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TMEM237
transmembrane protein 237
IAGP
HPO
ORPHA:220497
NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570
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TMLHE
trimethyllysine hydroxylase, epsilon
IAGP
ClinVar Annotator: match by term: Corpus callosum, agenesis of
ClinVar
PMID:31474318
NCBI chr X:155,489,011...155,612,952
Ensembl chr X:155,489,011...155,719,098
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TP73
tumor protein p73
IAGP
HPO
OMIM:619466
NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201
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TPP1
tripeptidyl peptidase 1
IAGP
HPO
ORPHA:168486
NCBI chr11:6,612,768...6,619,422
Ensembl chr11:6,612,768...6,619,448
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TRAPPC10
trafficking protein particle complex subunit 10
IAGP
HPO
ORPHA:2512
NCBI chr21:44,012,309...44,106,552
Ensembl chr21:44,012,309...44,106,552
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TRAPPC12
trafficking protein particle complex subunit 12
IAGP
HPO
OMIM:617669 ORPHA:500144
NCBI chr 2:3,379,694...3,479,565
Ensembl chr 2:3,379,675...3,485,094
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TRAPPC14
trafficking protein particle complex subunit 14
IAGP
HPO
ORPHA:2512
NCBI chr 7:100,154,423...100,158,723
Ensembl chr 7:100,154,420...100,158,723
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TTC5
tetratricopeptide repeat domain 5
IAGP
HPO
OMIM:619244
NCBI chr14:20,286,227...20,305,951
Ensembl chr14:20,256,558...20,305,960
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TUBA1A
tubulin alpha 1a
IAGP
associated with Lissencephaly;DNA:missense mutations:cds: ClinVar Annotator: match by term: Corpus callosum, agenesis of
HPO ClinVar RGD
PMID:18954413 PMID:20466733 PMID:24860126 PMID:25741868 PMID:28492532 PMID:30744660 PMID:31474318 PMID:31628766 PMID:32581362 PMID:33077954 PMID:18954413 More...
OMIM:611603 ORPHA:171680 , RGD:11067701
NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324
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TUBA8
tubulin alpha 8
IAGP
HPO
ORPHA:250972
NCBI chr22:18,110,809...18,131,732
Ensembl chr22:18,110,100...18,146,683
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TUBB2B
tubulin beta 2B class IIb
IAGP
HPO
OMIM:610031 ORPHA:300573
NCBI chr 6:3,224,277...3,227,653
Ensembl chr 6:3,223,324...3,231,730
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TUBB3
tubulin beta 3 class III
IAGP
HPO
OMIM:600638 OMIM:614039
NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761
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UBE4B
ubiquitination factor E4B
IAGP
HPO
ORPHA:1606
NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239
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VAC14
VAC14 component of PIKFYVE complex
IAGP
HPO
ORPHA:3472
NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160
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VANGL2
VANGL planar cell polarity protein 2
IAGP
HPO
ORPHA:563612
NCBI chr 1:160,400,564...160,428,670
Ensembl chr 1:160,400,564...160,428,670
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VAX1
ventral anterior homeobox 1
IAGP
HPO
OMIM:614402
NCBI chr10:117,128,520...117,138,270
Ensembl chr10:117,128,521...117,138,301
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WARS1
tryptophanyl-tRNA synthetase 1
IAGP
HPO
ORPHA:2512
NCBI chr14:100,333,790...100,376,327
Ensembl chr14:100,333,790...100,376,805
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WDR35
WD repeat domain 35
IAGP
HPO
ORPHA:93271
NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
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WDR62
WD repeat domain 62
IAGP
HPO
ORPHA:2512
NCBI chr19:36,054,897...36,111,145
Ensembl chr19:36,054,649...36,105,108
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WNT3
Wnt family member 3
IAGP
HPO
ORPHA:3301
NCBI chr17:46,762,506...46,818,692
Ensembl chr17:46,762,506...46,833,154
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YARS1
tyrosyl-tRNA synthetase 1
IAGP
ClinVar Annotator: match by term: Corpus callosum, agenesis of
ClinVar HPO
PMID:29232904
OMIM:619418
NCBI chr 1:32,775,239...32,817,358
Ensembl chr 1:32,775,237...32,818,031
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YY1
YY1 transcription factor
IAGP
HPO
ORPHA:506358
NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788
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ZBTB18
zinc finger and BTB domain containing 18
IAGP
HPO
OMIM:612337
NCBI chr 1:244,048,491...244,057,476
Ensembl chr 1:244,048,547...244,057,476
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ZEB2
zinc finger E-box binding homeobox 2
IAGP
HPO
OMIM:235730 ORPHA:261537 ORPHA:261552
NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
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ZIC1
Zic family member 1
IAGP
HPO
OMIM:616602 OMIM:618736
NCBI chr 3:147,409,365...147,416,719
Ensembl chr 3:147,393,422...147,510,293
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ZIC2
Zic family member 2
IAGP
HPO
ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926
NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765
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ZNF148
zinc finger protein 148
IAGP
HPO
OMIM:617260
NCBI chr 3:125,225,669...125,375,354
Ensembl chr 3:125,225,669...125,375,325
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ZNF335
zinc finger protein 335
IAGP
HPO
OMIM:615095
NCBI chr20:45,948,660...45,972,203
Ensembl chr20:45,948,660...45,972,203
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ZNF462
zinc finger protein 462
IAGP
HPO
OMIM:618619
NCBI chr 9:106,860,158...107,013,634
Ensembl chr 9:106,863,166...107,013,634
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ZNF699
zinc finger protein 699
IAGP
HPO
OMIM:619488
NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838
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ZSWIM6
zinc finger SWIM-type containing 6
IAGP
HPO
OMIM:603671 ORPHA:1827
NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172
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AARS1
alanyl-tRNA synthetase 1
IAGP
HPO
ORPHA:33364
NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707
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AMER1
APC membrane recruitment protein 1
IAGP
HPO
OMIM:300373
NCBI chr X:64,185,117...64,205,708
Ensembl chr X:64,185,117...64,205,708
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ARID1B
AT-rich interaction domain 1B
IAGP
HPO
OMIM:135900
NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
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C2CD3
C2 domain containing 3 centriole elongation regulator
IAGP
HPO
OMIM:615948 ORPHA:434179
NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210
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CARS1
cysteinyl-tRNA synthetase 1
IAGP
HPO
ORPHA:33364
NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613
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CDC40
cell division cycle 40
IAGP
HPO
OMIM:619302
NCBI chr 6:110,180,427...110,232,232
Ensembl chr 6:110,180,141...110,254,275
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CDK5RAP2
CDK5 regulatory subunit associated protein 2
IAGP
HPO
OMIM:604804
NCBI chr 9:120,388,875...120,580,167
Ensembl chr 9:120,388,875...120,580,170
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CENPE
centromere protein E
IAGP
HPO
OMIM:616051
NCBI chr 4:103,105,811...103,198,343
Ensembl chr 4:103,105,349...103,198,445
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CLCN3
chloride voltage-gated channel 3
IAGP
HPO
OMIM:619512 OMIM:619517
NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673
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CRPPA
CDP-L-ribitol pyrophosphorylase A
IAGP
HPO
OMIM:614643
NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
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DCC
DCC netrin 1 receptor
IAGP
ClinVar Annotator: match by term: Partial agenesis of the corpus callosum
ClinVar
PMID:25741868
NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899
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DDX3X
DEAD-box helicase 3 X-linked
IAGP
HPO
ORPHA:3338
NCBI chr X:41,333,308...41,364,472
Ensembl chr X:41,333,348...41,364,472
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DHCR24
24-dehydrocholesterol reductase
IAGP
HPO
OMIM:602398
NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195
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DHCR7
7-dehydrocholesterol reductase
IAGP
HPO
OMIM:270400
NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868
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DYNC1H1
dynein cytoplasmic 1 heavy chain 1
IAGP
ClinVar Annotator: match by term: Partial agenesis of corpus callosum
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443
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ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit
IAGP
HPO
ORPHA:33364
NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
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ERCC3
ERCC excision repair 3, TFIIH core complex helicase subunit
IAGP
HPO
ORPHA:33364
NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166
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FRA10AC1
FRA10A associated CGG repeat 1
IAGP
HPO
OMIM:620113
NCBI chr10:93,667,883...93,702,959
Ensembl chr10:93,667,883...93,702,592
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FRMD4A
FERM domain containing 4A
IAGP
HPO
OMIM:616819
NCBI chr10:13,643,706...14,330,924
Ensembl chr10:13,643,706...14,462,142
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GLI2
GLI family zinc finger 2
IAGP
HPO
OMIM:610829
NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
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GPSM2
G protein signaling modulator 2
IAGP
DNA:deletion, transversion mutations:cds,splice junction:c.1471delG,c.741delC,c.1661C>A,c.1062+1G>T (human);
HPO RGD
PMID:22578326
OMIM:604213 , RGD:11062393
NCBI chr 1:108,876,985...108,934,545
Ensembl chr 1:108,875,350...108,934,545
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GTF2E2
general transcription factor IIE subunit 2
IAGP
HPO
ORPHA:33364
NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236
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GTF2H5
general transcription factor IIH subunit 5
IAGP
HPO
ORPHA:33364
NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344
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HECTD4
HECT domain E3 ubiquitin protein ligase 4
IAGP
HPO
OMIM:620250
NCBI chr12:112,160,195...112,382,431
Ensembl chr12:112,160,188...112,382,439
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KAT5
lysine acetyltransferase 5
IAGP
HPO
OMIM:619103
NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604
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KATNB1
katanin regulatory subunit B1
IAGP
HPO
OMIM:616212
NCBI chr16:57,735,770...57,757,244
Ensembl chr16:57,735,739...57,757,244
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KDM5B
lysine demethylase 5B
IAGP
HPO
OMIM:618109
NCBI chr 1:202,724,495...202,808,421
Ensembl chr 1:202,724,495...202,808,487
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KIDINS220
kinase D interacting substrate 220
IAGP
HPO
OMIM:617296
NCBI chr 2:8,721,081...8,837,613
Ensembl chr 2:8,721,081...8,837,630
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L1CAM
L1 cell adhesion molecule
IAGP
HPO
OMIM:304100
NCBI chr X:153,861,514...153,886,173
Ensembl chr X:153,861,514...153,886,173
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LONP1
lon peptidase 1, mitochondrial
IAGP
HPO
ORPHA:79243
NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
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LRP2
LDL receptor related protein 2
IAGP
HPO
OMIM:222448
NCBI chr 2:169,127,109...169,362,534
Ensembl chr 2:169,127,109...169,362,534
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LRPPRC
leucine rich pentatricopeptide repeat containing
IAGP
HPO
OMIM:220111
NCBI chr 2:43,886,224...43,996,265
Ensembl chr 2:43,886,224...43,996,226
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LRRC32
leucine rich repeat containing 32
IAGP
HPO
OMIM:619074
NCBI chr11:76,657,524...76,670,747
Ensembl chr11:76,657,524...76,670,747
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MAN2C1
mannosidase alpha class 2C member 1
IAGP
HPO
OMIM:619775
NCBI chr15:75,355,792...75,368,607
Ensembl chr15:75,355,207...75,368,612
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MDH1
malate dehydrogenase 1
IAGP
HPO
OMIM:618959
NCBI chr 2:63,588,963...63,607,197
Ensembl chr 2:63,588,609...63,607,197
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MED12
mediator complex subunit 12
IAGP
HPO
OMIM:305450
NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
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MPLKIP
M-phase specific PLK1 interacting protein
IAGP
HPO
OMIM:234050 ORPHA:33364
NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622
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MRPS25
mitochondrial ribosomal protein S25
IAGP
HPO
OMIM:619025
NCBI chr 3:15,042,251...15,065,315
Ensembl chr 3:15,009,611...15,065,339
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NSD1
nuclear receptor binding SET domain protein 1
IAGP
HPO
OMIM:117550
NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
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OSTM1
osteoclastogenesis associated transmembrane protein 1
IAGP
HPO
ORPHA:85179
NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854
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PDHA1
pyruvate dehydrogenase E1 subunit alpha 1
IAGP
HPO
ORPHA:79243
NCBI chr X:19,343,927...19,361,718
Ensembl chr X:19,343,893...19,361,718
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PDHX
pyruvate dehydrogenase complex component X
IAGP
HPO
OMIM:245349
NCBI chr11:34,915,920...34,996,128
Ensembl chr11:34,915,829...35,020,591
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PLCH1
phospholipase C eta 1
IAGP
HPO
OMIM:619895
NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071
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PLK4
polo like kinase 4
IAGP
HPO
OMIM:616171
NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224
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PTCH1
patched 1
IAGP
HPO
OMIM:610828
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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RNF113A
ring finger protein 113A
IAGP
HPO
ORPHA:33364
NCBI chr X:119,870,475...119,871,733
Ensembl chr X:119,870,475...119,871,733
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RNU4ATAC
RNA, U4atac small nuclear
IAGP
HPO
OMIM:210710
NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
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ROBO1
roundabout guidance receptor 1
IAGP
HPO
OMIM:620305
NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998
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SHH
sonic hedgehog signaling molecule
IAGP
ClinVar Annotator: match by term: Partial agenesis of the corpus callosum
ClinVar
NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
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SLC25A19
solute carrier family 25 member 19
IAGP
HPO
OMIM:607196
NCBI chr17:75,272,992...75,289,433
Ensembl chr17:75,272,981...75,289,510
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SUPT16H
SPT16 homolog, facilitates chromatin remodeling subunit
IAGP
HPO
OMIM:619480
NCBI chr14:21,351,476...21,384,019
Ensembl chr14:21,351,476...21,384,019
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TAF8
TATA-box binding protein associated factor 8
IAGP
ClinVar Annotator: match by term: Partial agenesis of the corpus callosum
ClinVar
PMID:25741868 PMID:29648665 PMID:35759269
NCBI chr 6:42,050,524...42,087,462
Ensembl chr 6:42,050,513...42,087,461
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TARS1
threonyl-tRNA synthetase 1
IAGP
HPO
ORPHA:33364
NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091
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TCF12
transcription factor 12
IAGP
HPO
OMIM:615314
NCBI chr15:56,918,090...57,291,310
Ensembl chr15:56,918,623...57,299,281
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TMEM260
transmembrane protein 260
IAGP
HPO
OMIM:617478
NCBI chr14:56,579,525...56,663,165
Ensembl chr14:56,488,354...56,650,606
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TNR
tenascin R
IAGP
HPO
OMIM:619653
NCBI chr 1:175,315,194...175,743,595
Ensembl chr 1:175,315,194...175,743,595
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TRAPPC12
trafficking protein particle complex subunit 12
IAGP
HPO
ORPHA:500144
NCBI chr 2:3,379,694...3,479,565
Ensembl chr 2:3,379,675...3,485,094
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TUBA1A
tubulin alpha 1a
IAGP
HPO
ORPHA:171680
NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324
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TUBB
tubulin beta class I
IAGP
HPO
OMIM:615771
NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538
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TUBB2B
tubulin beta 2B class IIb
IAGP
HPO
OMIM:610031
NCBI chr 6:3,224,277...3,227,653
Ensembl chr 6:3,223,324...3,231,730
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TUBB3
tubulin beta 3 class III
IAGP
HPO
ORPHA:300570
NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761
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WDR4
WD repeat domain 4
IAGP
HPO
OMIM:618346
NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568
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