RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: cerebellar hypoplasia
Accession: DOID:0070338
browse the term
Definition: A cerebellar disease that is characterized by a cerebellum that is smaller than usual or not completely developed. (DO)
Synonyms: exact_synonym: congenital cerebellar hypoplasia
primary_id: MESH:C562568
xref: GARD:1194 ; NCI:C98890
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Ahdc1
AT hook, DNA binding motif, containing 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145
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Arid1a
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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Arid1b
AT-rich interaction domain 1B
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
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
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31727539
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
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr12:24,104,187...25,194,123
Ensembl chr12:24,104,192...25,194,416
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Bcl11a
BCL11 transcription factor A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180
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Bcor
BCL6 co-repressor
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
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
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:21735175 PMID:25326635 PMID:25741868 PMID:25886057 PMID:31474318 PMID:32581362 More...
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
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:26235985 PMID:28135719 PMID:28492532 PMID:31474318
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
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:21931702 PMID:25741868 PMID:28492532 PMID:28930861 PMID:31474318
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Dync1h1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532
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
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Flg
filaggrin
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chr 2:178,884,793...178,912,986
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Foxp1
forkhead box P1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532 PMID:31474318
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
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr15:39,421,366...39,488,369
Ensembl chr15:39,421,355...39,488,369
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Kctd3
potassium channel tetramerization domain containing 3
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25558065
NCBI chr13:100,510,193...100,548,765
Ensembl chr13:100,510,195...100,548,718
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Kiaa0586
KIAA0586 homolog
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...
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
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
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
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:7562969 PMID:8929944 PMID:10797421 PMID:16650080 PMID:25741868 PMID:28492532 PMID:31474318 More...
NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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Macf1
microtubule-actin crosslinking factor 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 5:135,623,734...135,949,097
Ensembl chr 5:135,623,742...135,945,905
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Ophn1
oligophrenin 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31474318
NCBI chr X:63,599,746...63,976,678
Ensembl chr X:63,603,042...63,976,633
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Oxr1
oxidation resistance 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31785787
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
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:16783378 PMID:32581362
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
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...
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
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...
NCBI chr 5:49,181,517...49,238,664
Ensembl chr 5:49,181,565...49,233,276
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Sema6b
semaphorin 6B
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 9:950,939...967,905
Ensembl chr 9:950,939...961,521
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Sepsecs
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chr14:58,311,484...58,341,745
Ensembl chr14:58,311,499...58,341,740
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Setd2
SET domain containing 2, histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532 PMID:29276005 PMID:31474318 PMID:32710489
NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489
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Sptan1
spectrin, alpha, non-erythrocytic 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:29050398 PMID:31474318 PMID:32963807
NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
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Stxbp1
syntaxin binding protein 1
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...
NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
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Tmlhe
trimethyllysine hydroxylase, epsilon
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr20:91,234...138,942
Ensembl chr20:91,272...140,386
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Tsen54
tRNA splicing endonuclease subunit 54
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID: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...
NCBI chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087
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Tuba1a
tubulin, alpha 1A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
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
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:24702957 PMID:25741868 PMID:31474318
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
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:18414213 PMID:25741868 PMID:28492532
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
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 PMID:31780822
NCBI chr17:61,637,258...61,703,677
Ensembl chr17:61,637,258...61,703,677
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Oxr1
oxidation resistance 1
ISO
OMIM
NCBI chr 7:72,528,750...72,965,666
Ensembl chr 7:72,528,786...72,965,666
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Cdk5
cyclin-dependent kinase 5
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia
OMIM CTD ClinVar
PMID:25560765
NCBI chr 4:10,754,682...10,760,110
Ensembl chr 4:10,754,687...10,760,112
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Ints8
integrator complex subunit 8
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
OMIM ClinVar
PMID:25741868 PMID:28763441
NCBI chr 5:24,295,542...24,344,642
Ensembl chr 5:24,297,191...24,344,740
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Exoc2
exocyst complex component 2
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
ClinVar OMIM
PMID:32639540
NCBI chr17:33,506,289...33,698,246
Ensembl chr17:33,506,338...33,693,289
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Hus1b
HUS1 checkpoint clamp component B
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
ClinVar
NCBI chr17:33,534,032...33,535,199
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Med27
mediator complex subunit 27
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
ClinVar OMIM
PMID:33443317
NCBI chr 3:12,629,593...12,803,340
Ensembl chr 3:12,629,603...12,803,339
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Pah
phenylalanine hydroxylase
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...
NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130
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Pi4ka
phosphatidylinositol 4-kinase alpha
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...
NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080
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Als2cl
ALS2 C-terminal like
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,863,753...110,884,434
Ensembl chr 8:110,864,975...110,884,419
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Arih2
ariadne RBR E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,296,738...109,355,909
Ensembl chr 8:109,296,738...109,355,852
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Camp
cathelicidin antimicrobial peptide
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,841,729...109,843,543
Ensembl chr 8:109,841,729...109,843,543
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Ccdc12
coiled-coil domain containing 12
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,635,276...110,686,417
Ensembl chr 8:110,635,710...110,686,417
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Ccdc51
coiled-coil domain containing 51
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,722,595...109,741,478
Ensembl chr 8:109,722,557...109,741,472
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Ccr1
C-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 8:123,556,286...123,561,841
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Ccr2
C-C motif chemokine receptor 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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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
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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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
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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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
NCBI chr 8:123,396,157...123,410,199
Ensembl chr 8:123,395,813...123,413,969
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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
NCBI chr 8:111,034,279...111,036,914
Ensembl chr 8:111,034,279...111,036,664
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Cdc25a
cell division cycle 25A
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,864,356...109,882,734
Ensembl chr 8:109,864,478...109,882,701
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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
NCBI chr 8:109,530,597...109,558,360
Ensembl chr 8:109,530,641...109,558,354
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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
NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252
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Cripto
cripto, EGF-CFC family member
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,924,774...110,938,545
Ensembl chr 8:110,925,024...110,930,308
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Cspg5
chondroitin sulfate proteoglycan 5
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,220,506...110,234,766
Ensembl chr 8:110,220,653...110,234,758
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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
NCBI chr 8:123,434,417...123,439,568
Ensembl chr 8:123,416,325...123,439,526
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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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Dhx30
DExH-box helicase 30
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:110,064,751...110,096,954
Ensembl chr 8:110,064,752...110,097,381
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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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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
NCBI chr 8:109,782,315...109,802,086
Ensembl chr 8:109,786,815...109,801,813
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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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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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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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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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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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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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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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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
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
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
NCBI chr 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192
G
Map4
microtubule-associated protein 4
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,925,233...110,064,370
Ensembl chr 8:109,925,575...110,064,362
G
Mir191
microRNA 191
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,264,098...109,264,188
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
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
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
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
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
G
P4htm
prolyl 4-hydroxylase, transmembrane
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
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
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
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
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
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
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
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:25741905 PMID:26467025 PMID:26869582 PMID:27572814 PMID:28492532 PMID:28620870 PMID:29875423 PMID:30755392 PMID:31618474 PMID:32042906 PMID:33256324 More...
NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739
G
Qrich1
glutamine-rich 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,216,900...109,256,472
Ensembl chr 8:109,217,376...109,261,359
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
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
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
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
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
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
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
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
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
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
NCBI chr 8:109,814,062...109,828,994
Ensembl chr 8:109,817,365...109,828,994
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
NCBI chr 8:109,726,213...109,730,902
Ensembl chr 8:109,726,196...109,735,474
G
Tmem89
transmembrane protein 89
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:109,571,377...109,572,271
Ensembl chr 8:109,571,377...109,572,271
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
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
NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796
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
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
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
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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
21128
Developmental Disease
18449
Neurodevelopmental Disorders
6831
Developmental Disabilities
776
cerebellar hypoplasia
107
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY
1
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA
2
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA
1
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS
2
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy
65
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay
1
lissencephaly 7 with cerebellar hypoplasia
1
Path 2
disease
21128
disease of anatomical entity
18211
nervous system disease
14059
central nervous system disease
12398
brain disease
11633
disease of mental health
8300
Neurodevelopmental Disorders
6831
Developmental Disabilities
776
cerebellar hypoplasia
107
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY
1
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA
2
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA
1
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS
2
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy
65
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay
1
lissencephaly 7 with cerebellar hypoplasia
1