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
Please select species to view GViewer data.
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
M
2700049A03Rik
RIKEN cDNA 2700049A03 gene
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 PMID:26096313 PMID:26166481 PMID:26386044 PMID:26386247 PMID:26437029 PMID:28125082 PMID:28492532 PMID:29068549 PMID:30120217 PMID:32381069 PMID:32581362 PMID:36788019 PMID:39033378 More...
NCBI chr12:71,183,627...71,356,273
Ensembl chr12:71,183,622...71,290,077
G
N
Ahdc1
AT-hook DNA binding motif containing 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chrNW_004624764:11,416,674...11,482,622
Ensembl chrNW_004624764:11,416,674...11,482,601
G
G
AHDC1
AT-hook DNA binding motif containing 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr20:105,187,943...105,257,767
Ensembl chr20:105,239,747...105,244,558
G
P
AHDC1
AT-hook DNA binding motif containing 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 6:84,735,253...84,774,554
Ensembl chr 6:84,735,253...84,802,456
G
S
Ahdc1
AT-hook DNA binding motif containing 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chrNW_004936474:11,824,692...11,846,355
Ensembl chrNW_004936474:11,824,697...11,876,817
G
D
AHDC1
AT-hook DNA binding motif containing 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 2:72,711,626...72,762,802
Ensembl chr 2:72,747,701...72,752,605
G
B
AHDC1
AT-hook DNA binding motif containing 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 1:26,794,800...26,864,669
G
C
Ahdc1
AT-hook DNA binding motif containing 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chrNW_004955452:6,767,250...6,832,989
Ensembl chrNW_004955452:6,767,266...6,832,868
G
R
Ahdc1
AT hook, DNA binding motif, containing 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 5:150,512,182...150,578,804
Ensembl chr 5:145,228,227...145,294,145
G
M
Ahdc1
AT hook, DNA binding motif, containing 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 4:132,738,797...132,805,421
Ensembl chr 4:132,738,571...132,805,421
G
H
AHDC1
AT-hook DNA binding motif containing 1
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 1:27,534,245...27,604,227
Ensembl chr 1:27,534,035...27,604,431
G
N
Arid1a
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004624764:10,672,673...10,759,634
Ensembl chrNW_004624764:10,672,735...10,759,634
G
G
ARID1A
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672
G
P
ARID1A
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349
G
S
Arid1a
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004936474:11,148,857...11,197,312
G
D
ARID1A
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102
G
B
ARID1A
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239
G
C
Arid1a
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955452:6,068,631...6,120,759
Ensembl chrNW_004955452:6,068,631...6,120,759
G
R
Arid1a
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:145,908,181...145,985,564
G
M
Arid1a
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080
G
H
ARID1A
AT-rich interaction domain 1A
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
G
N
Arid1b
AT-rich interaction domain 1B
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chrNW_004624785:970,169...1,417,847
Ensembl chrNW_004624785:973,003...1,417,853
G
G
ARID1B
AT-rich interaction domain 1B
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chr13:84,351,298...84,799,691
G
P
ARID1B
AT-rich interaction domain 1B
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chr 1:9,791,627...10,227,381
Ensembl chr 1:9,791,633...10,227,502
G
S
Arid1b
AT-rich interaction domain 1B
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chrNW_004936489:8,811,094...9,202,423
Ensembl chrNW_004936489:9,087,697...9,205,203
G
D
ARID1B
AT-rich interaction domain 1B
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chr 1:46,370,621...46,800,531
Ensembl chr 1:46,372,767...46,799,104
G
B
ARID1B
AT-rich interaction domain 1B
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chr 6:154,581,148...155,018,706
G
C
Arid1b
AT-rich interaction domain 1B
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chrNW_004955439:5,041,111...5,454,692
Ensembl chrNW_004955439:5,043,967...5,412,741
G
R
Arid1b
AT-rich interaction domain 1B
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chr 1:47,973,199...48,328,793
Ensembl chr 1:45,563,623...45,923,493
G
M
Arid1b
AT-rich interaction domain 1B
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chr17:5,044,481...5,397,931
Ensembl chr17:5,044,607...5,397,931
G
H
ARID1B
AT-rich interaction domain 1B
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
G
G
ATAD3A
ATPase family AAA domain containing 3A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31727539
NCBI chr20:129,965,964...129,987,866
G
D
ATAD3A
ATPase family AAA domain containing 3A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31727539
NCBI chr 5:56,587,385...56,613,475
Ensembl chr 5:56,587,428...56,612,746
G
R
Atad3a
ATPase family, AAA domain containing 3A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31727539
NCBI chr 5:171,632,545...171,652,725
Ensembl chr 5:166,350,304...166,370,482
G
M
Atad3a
ATPase family, AAA domain containing 3A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31727539
NCBI chr 4:155,825,097...155,845,579
Ensembl chr 4:155,825,098...155,845,550
G
H
ATAD3A
ATPase family AAA domain containing 3A
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31727539
NCBI chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685
G
N
Auts2
activator of transcription and developmental regulator AUTS2
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chrNW_004624740:10,339,411...11,463,292
Ensembl chrNW_004624740:10,341,274...10,367,075
G
G
AUTS2
activator of transcription and developmental regulator AUTS2
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr28:4,565,958...5,759,088
Ensembl chr28:4,567,622...4,595,056
G
P
AUTS2
activator of transcription and developmental regulator AUTS2
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 3:13,565,439...14,794,365
Ensembl chr 3:13,565,281...14,794,365
G
S
Auts2
activator of transcription and developmental regulator AUTS2
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chrNW_004936543:5,146,961...6,187,634
G
D
AUTS2
activator of transcription and developmental regulator AUTS2
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 6:2,747,288...3,875,774
Ensembl chr 6:2,748,598...3,875,611
G
B
AUTS2
activator of transcription and developmental regulator AUTS2
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 7:64,822,964...66,015,831
Ensembl chr 7:77,495,909...78,686,763
G
C
Auts2
activator of transcription and developmental regulator AUTS2
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chrNW_004955456:10,294,525...11,417,761
Ensembl chrNW_004955456:10,296,377...10,322,455
G
R
Auts2
activator of transcription and developmental regulator AUTS2
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr12:29,739,138...30,830,386
Ensembl chr12:24,104,192...25,194,416
G
M
Auts2
autism susceptibility candidate 2
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 5:131,466,171...132,572,059
Ensembl chr 5:131,466,171...132,572,183
G
H
AUTS2
activator of transcription and developmental regulator AUTS2
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506
G
N
Bcl11a
BCL11 transcription factor A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chrNW_004624833:1,367,878...1,468,257
Ensembl chrNW_004624833:1,367,781...1,468,400
G
G
BCL11A
BCL11 transcription factor A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr14:46,453,102...46,553,802
G
P
BCL11A
BCL11 transcription factor A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 3:81,195,217...81,296,165
Ensembl chr 3:81,196,294...81,296,382
G
S
Bcl11a
BCL11 transcription factor A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chrNW_004936491:6,021,340...6,118,103
Ensembl chrNW_004936491:6,021,343...6,118,568
G
D
BCL11A
BCL11 transcription factor A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr10:60,589,298...60,691,997
Ensembl chr10:60,589,708...60,689,073
G
B
BCL11A
BCL11 transcription factor A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr2A:60,552,908...60,655,437
Ensembl chr2A:61,695,613...61,795,800
G
C
Bcl11a
BCL11 transcription factor A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chrNW_004955424:23,233,523...23,330,679
Ensembl chrNW_004955424:23,233,523...23,330,679
G
R
Bcl11a
BCL11 transcription factor A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr14:102,230,147...102,325,289
Ensembl chr14:98,030,461...98,124,180
G
M
Bcl11a
BCL11 transcription factor A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr11:24,026,498...24,123,558
Ensembl chr11:24,028,056...24,124,123
G
H
BCL11A
BCL11 transcription factor A
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 2:60,450,520...60,553,924
Ensembl chr 2:60,450,520...60,554,467
G
N
Bcor
BCL6 corepressor
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chrNW_004624762:15,338,331...15,465,683
Ensembl chrNW_004624762:15,420,596...15,465,873
G
G
BCOR
BCL6 corepressor
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chr X:37,191,242...37,319,966
Ensembl chr X:37,192,874...37,319,782
G
P
BCOR
BCL6 corepressor
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chr X:35,768,013...35,891,013
Ensembl chr X:35,768,017...35,814,833
G
S
Bcor
BCL6 corepressor
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chrNW_004936502:6,764,043...6,812,194
Ensembl chrNW_004936502:6,764,907...6,792,916
G
D
BCOR
BCL6 corepressor
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chr X:34,621,314...34,735,502
Ensembl chr X:34,621,886...34,645,766
G
B
BCOR
BCL6 corepressor
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chr X:32,497,931...32,624,307
Ensembl chr X:40,202,235...40,249,986
G
C
Bcor
BCL6 corepressor
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chrNW_004955566:1,412,540...1,510,339
Ensembl chrNW_004955566:1,412,540...1,457,329
G
R
Bcor
BCL6 co-repressor
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chr X:13,282,431...13,402,254
Ensembl chr X:10,687,732...10,729,613
G
M
Bcor
BCL6 interacting corepressor
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chr X:11,902,976...12,026,769
Ensembl chr X:11,902,979...12,026,594
G
H
BCOR
BCL6 corepressor
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329
G
N
Cask
calcium/calmodulin dependent serine protein kinase
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 PMID:22709267 PMID:25326635 PMID:25741868 PMID:25886057 PMID:28492532 PMID:31474318 PMID:32581362 PMID:35670295 More...
NCBI chrNW_004624762:13,723,347...14,106,844
Ensembl chrNW_004624762:13,722,691...14,106,844
G
G
CASK
calcium/calmodulin dependent serine protein kinase
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 PMID:22709267 PMID:25326635 PMID:25741868 PMID:25886057 PMID:28492532 PMID:31474318 PMID:32581362 PMID:35670295 More...
NCBI chr X:38,704,623...39,121,309
G
P
CASK
calcium/calmodulin dependent serine protein kinase
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 PMID:22709267 PMID:25326635 PMID:25741868 PMID:25886057 PMID:28492532 PMID:31474318 PMID:32581362 PMID:35670295 More...
NCBI chr X:37,166,973...37,535,723
Ensembl chr X:37,167,577...37,536,160
G
S
Cask
calcium/calmodulin dependent serine protein kinase
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 PMID:22709267 PMID:25326635 PMID:25741868 PMID:25886057 PMID:28492532 PMID:31474318 PMID:32581362 PMID:35670295 More...
NCBI chrNW_004936502:7,933,312...8,281,492
Ensembl chrNW_004936502:7,937,146...8,281,492
G
D
CASK
calcium/calmodulin dependent serine protein kinase
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 PMID:22709267 PMID:25326635 PMID:25741868 PMID:25886057 PMID:28492532 PMID:31474318 PMID:32581362 PMID:35670295 More...
NCBI chr X:35,939,117...36,296,438
Ensembl chr X:35,940,647...36,297,014
G
B
CASK
calcium/calmodulin dependent serine protein kinase
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 PMID:22709267 PMID:25326635 PMID:25741868 PMID:25886057 PMID:28492532 PMID:31474318 PMID:32581362 PMID:35670295 More...
NCBI chr X:33,967,329...34,374,385
Ensembl chr X:41,659,295...42,066,570
G
C
Cask
calcium/calmodulin dependent serine protein kinase
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 PMID:22709267 PMID:25326635 PMID:25741868 PMID:25886057 PMID:28492532 PMID:31474318 PMID:32581362 PMID:35670295 More...
NCBI chrNW_004955565:879,560...1,242,727
Ensembl chrNW_004955565:879,830...1,237,692
G
R
Cask
calcium/calmodulin dependent serine protein kinase
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 PMID:22709267 PMID:25326635 PMID:25741868 PMID:25886057 PMID:28492532 PMID:31474318 PMID:32581362 PMID:35670295 More...
NCBI chr X:11,572,328...11,915,831
Ensembl chr X:8,899,833...9,238,694
G
M
Cask
calcium/calmodulin dependent serine protein kinase
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 PMID:22709267 PMID:25326635 PMID:25741868 PMID:25886057 PMID:28492532 PMID:31474318 PMID:32581362 PMID:35670295 More...
NCBI chr X:13,383,319...13,713,020
Ensembl chr X:13,383,319...13,717,606
G
H
CASK
calcium/calmodulin dependent serine protein kinase
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 PMID:22709267 PMID:25326635 PMID:25741868 PMID:25886057 PMID:28492532 PMID:31474318 PMID:32581362 PMID:35670295 More...
NCBI chr X:41,514,934...41,923,554
Ensembl chr X:41,514,934...41,923,554
G
H
CCDST
cervical cancer associated DHX9 suppressive transcript
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chr 1:152,189,303...152,366,692
Ensembl chr 1:152,165,553...152,445,456
G
N
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 chrNW_004624762:14,290,267...14,305,437
Ensembl chrNW_004624762:14,290,267...14,305,633
G
G
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:38,513,251...38,539,982
Ensembl chr Y:689,380...706,092
G
P
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:36,988,031...37,005,496
Ensembl chr X:36,988,031...37,018,202
G
S
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 chrNW_004936502:7,770,896...7,820,555
Ensembl chrNW_004936502:7,804,824...7,820,569
G
D
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:35,759,367...35,789,759
Ensembl chr X:35,759,416...35,789,774
G
B
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:33,780,381...33,796,829
Ensembl chr X:41,475,116...41,505,837
G
C
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 chrNW_004955565:1,387,043...1,403,624
Ensembl chrNW_004955565:1,386,973...1,404,220
G
R
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:12,152,346...12,165,983
Ensembl chr X:9,479,532...9,493,168
G
M
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:13,147,261...13,160,222
Ensembl chr X:13,147,209...13,160,291
G
H
DDX3X
DEAD-box helicase 3 X-linked
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:26235985 PMID:28135719 PMID:28492532 PMID:31474318
NCBI chr X:41,333,308...41,364,472
Ensembl chr X:41,333,348...41,364,472
G
N
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
NCBI chrNW_004624963:468,673...479,317
Ensembl chrNW_004624963:469,408...479,207
G
G
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
NCBI chr X:129,015,883...129,029,741
Ensembl chr X:129,016,046...129,030,001
G
P
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
NCBI chr X:125,218,928...125,228,881
Ensembl chr X:125,218,923...125,229,525
G
S
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
NCBI chrNW_004936927:134,770...144,057
G
D
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
NCBI chr X:122,838,787...122,850,870
Ensembl chr X:122,838,645...122,850,884
G
B
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
NCBI chr X:144,243,493...144,257,419
Ensembl chr X:154,084,412...154,098,475
G
C
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
NCBI chrNW_004955594:846,997...857,255
Ensembl chrNW_004955594:847,815...856,510
G
R
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
NCBI chr X:157,751,651...157,757,796
G
M
Dkc1
dyskeratosis congenita 1, dyskerin
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:21931702 PMID:25741868 PMID:28492532 PMID:28930861 PMID:31474318
NCBI chr X:74,139,460...74,153,382
Ensembl chr X:74,139,460...74,153,383
G
H
DKC1
dyskerin pseudouridine synthase 1
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:21931702 PMID:25741868 PMID:28492532 PMID:28930861 PMID:31474318
NCBI chr X:154,762,864...154,777,689
Ensembl chr X:154,762,742...154,777,689
G
N
Dync1h1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004624734:2,253,931...2,311,341
Ensembl chrNW_004624734:2,254,085...2,311,177
G
G
DYNC1H1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr24:79,915,719...80,008,666
Ensembl chr24:79,915,889...80,000,099
G
P
DYNC1H1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532
G
S
Dync1h1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004936835:225,879...290,160
Ensembl chrNW_004936835:225,324...289,954
G
D
DYNC1H1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:69,997,021...70,064,886
Ensembl chr 8:69,997,145...70,064,825
G
B
DYNC1H1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475
G
C
Dync1h1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004955538:1,388,595...1,458,166
Ensembl chrNW_004955538:1,390,137...1,458,025
G
R
Dync1h1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:135,436,375...135,502,117
Ensembl chr 6:129,609,397...129,680,883
G
M
Dync1h1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:110,567,829...110,633,378
Ensembl chr12:110,567,886...110,633,379
G
H
DYNC1H1
dynein cytoplasmic 1 heavy chain 1
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443
G
N
Fgfr1
fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chrNW_004624780:5,161,245...5,212,641
Ensembl chrNW_004624780:5,161,073...5,213,870
G
G
FGFR1
fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 8:36,426,116...36,485,683
Ensembl chr 8:36,427,110...36,485,508
G
P
FGFR1
fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724
G
S
Fgfr1
fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chrNW_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508
G
D
FGFR1
fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261
G
B
FGFR1
fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904
G
C
Fgfr1
fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chrNW_004955463:14,013,247...14,064,354
Ensembl chrNW_004955463:14,013,247...14,064,111
G
R
Fgfr1
Fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350
G
M
Fgfr1
fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734
G
H
FGFR1
fibroblast growth factor receptor 1
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
G
D
FLG
filaggrin
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chr17:61,217,915...61,233,068
G
B
FLG
filaggrin
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chr 1:127,634,416...127,649,659
G
R
Flg
filaggrin
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chr 2:178,884,793...178,912,986
G
M
Flg
filaggrin
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chr 3:93,180,853...93,200,996
Ensembl chr 3:93,180,830...93,200,993
G
H
FLG
filaggrin
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chr 1:152,302,165...152,325,239
Ensembl chr 1:152,302,165...152,325,239
G
N
Foxp1
forkhead box P1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532 PMID:31474318
NCBI chrNW_004624773:5,543,529...6,076,522
Ensembl chrNW_004624773:5,543,536...5,883,131
G
G
FOXP1
forkhead box P1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532 PMID:31474318
NCBI chr22:31,907,941...32,538,294
Ensembl chr22:31,912,460...32,154,502
G
P
FOXP1
forkhead box P1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532 PMID:31474318
NCBI chr13:52,346,844...52,974,358
Ensembl chr13:52,348,234...52,876,892
G
S
Foxp1
forkhead box P1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532 PMID:31474318
NCBI chrNW_004936603:2,631,781...3,146,104
Ensembl chrNW_004936603:2,632,274...2,830,324
G
D
FOXP1
forkhead box P1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532 PMID:31474318
NCBI chr20:20,438,631...21,020,516
Ensembl chr20:20,788,433...21,016,397
G
B
FOXP1
forkhead box P1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532 PMID:31474318
NCBI chr 3:70,893,933...71,523,892
Ensembl chr 3:72,258,456...72,498,173
G
C
Foxp1
forkhead box P1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532 PMID:31474318
NCBI chrNW_004955421:16,595,445...17,075,923
Ensembl chrNW_004955421:16,595,471...17,075,923
G
R
Foxp1
forkhead box P1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532 PMID:31474318
NCBI chr 4:133,117,346...133,808,647
Ensembl chr 4:131,564,756...132,112,258
G
M
Foxp1
forkhead box P1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532 PMID:31474318
NCBI chr 6:98,902,303...99,510,587
Ensembl chr 6:98,902,299...99,499,682
G
H
FOXP1
forkhead box P1
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532 PMID:31474318
NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978
G
N
Fzd3
frizzled class receptor 3
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chrNW_004624758:23,147,512...23,240,711
Ensembl chrNW_004624758:23,147,452...23,230,879
G
G
FZD3
frizzled class receptor 3
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 8:26,598,544...26,668,983
Ensembl chr 8:26,598,610...26,667,543
G
P
FZD3
frizzled class receptor 3
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr14:12,281,127...12,394,768
Ensembl chr14:12,281,155...12,390,530
G
S
Fzd3
frizzled class receptor 3
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chrNW_004936675:1,275,500...1,334,878
Ensembl chrNW_004936675:1,275,470...1,333,540
G
D
FZD3
frizzled class receptor 3
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr25:28,969,126...29,075,763
Ensembl chr25:28,952,477...29,075,851
G
B
FZD3
frizzled class receptor 3
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 8:27,773,699...27,853,980
Ensembl chr 8:24,973,644...25,042,115
G
C
Fzd3
frizzled class receptor 3
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chrNW_004955403:50,899,658...50,959,077
Ensembl chrNW_004955403:50,899,523...50,959,071
G
R
Fzd3
frizzled class receptor 3
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr15:43,596,962...43,664,047
Ensembl chr15:39,421,355...39,488,369
G
M
Fzd3
frizzled class receptor 3
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr14:65,429,890...65,499,912
Ensembl chr14:65,429,898...65,499,912
G
H
FZD3
frizzled class receptor 3
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 8:28,494,212...28,574,258
Ensembl chr 8:28,494,205...28,574,267
G
N
Kctd3
potassium channel tetramerization domain containing 3
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25558065 PMID:25741868
NCBI chrNW_004624835:11,110...46,480
G
G
KCTD3
potassium channel tetramerization domain containing 3
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25558065 PMID:25741868
NCBI chr25:13,951,569...14,008,370
Ensembl chr25:13,950,775...14,008,338
G
P
KCTD3
potassium channel tetramerization domain containing 3
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25558065 PMID:25741868
NCBI chr10:5,754,180...5,815,126
Ensembl chr10:5,754,156...5,815,086
G
S
Kctd3
potassium channel tetramerization domain containing 3
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25558065 PMID:25741868
NCBI chrNW_004936628:2,862,536...2,912,784
Ensembl chrNW_004936628:2,862,617...2,912,790
G
D
KCTD3
potassium channel tetramerization domain containing 3
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25558065 PMID:25741868
NCBI chr38:11,016,344...11,059,843
Ensembl chr38:11,008,857...11,084,871
G
B
KCTD3
potassium channel tetramerization domain containing 3
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25558065 PMID:25741868
NCBI chr 1:191,138,755...191,193,352
Ensembl chr 1:195,992,842...196,051,606
G
C
Kctd3
potassium channel tetramerization domain containing 3
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25558065 PMID:25741868
NCBI chrNW_004955406:2,500,619...2,539,123
Ensembl chrNW_004955406:2,501,083...2,540,125
G
R
Kctd3
potassium channel tetramerization domain containing 3
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25558065 PMID:25741868
NCBI chr13:100,510,193...100,548,765
Ensembl chr13:100,510,195...100,548,718
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Kctd3
potassium channel tetramerisation domain containing 3
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25558065 PMID:25741868
NCBI chr 1:188,703,292...188,740,095
Ensembl chr 1:188,703,292...188,740,038
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KCTD3
potassium channel tetramerization domain containing 3
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25558065 PMID:25741868
NCBI chr 1:215,567,304...215,621,807
Ensembl chr 1:215,567,304...215,621,807
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Kiaa0586
KIAA0586 ortholog
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 PMID:26096313 PMID:26166481 PMID:26386044 PMID:26386247 PMID:26437029 PMID:28125082 PMID:28492532 PMID:29068549 PMID:30120217 PMID:32381069 PMID:32581362 PMID:36788019 PMID:39033378 More...
NCBI chrNW_004624884:3,477,240...3,624,420
Ensembl chrNW_004624884:3,478,065...3,625,711
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KIAA0586
KIAA0586 ortholog
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 PMID:26096313 PMID:26166481 PMID:26386044 PMID:26386247 PMID:26437029 PMID:28125082 PMID:28492532 PMID:29068549 PMID:30120217 PMID:32381069 PMID:32581362 PMID:36788019 PMID:39033378 More...
NCBI chr24:35,606,816...35,733,490
Ensembl chr24:35,606,714...35,734,346
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KIAA0586
KIAA0586
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 PMID:26096313 PMID:26166481 PMID:26386044 PMID:26386247 PMID:26437029 PMID:28125082 PMID:28492532 PMID:29068549 PMID:30120217 PMID:32381069 PMID:32581362 PMID:36788019 PMID:39033378 More...
NCBI chr 1:187,504,694...187,642,492
Ensembl chr 1:187,504,638...187,642,492
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Kiaa0586
KIAA0586 ortholog
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 PMID:26096313 PMID:26166481 PMID:26386044 PMID:26386247 PMID:26437029 PMID:28125082 PMID:28492532 PMID:29068549 PMID:30120217 PMID:32381069 PMID:32581362 PMID:36788019 PMID:39033378 More...
NCBI chrNW_004936495:2,799,738...2,933,157
Ensembl chrNW_004936495:2,800,384...2,931,856
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KIAA0586
KIAA0586
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 PMID:26096313 PMID:26166481 PMID:26386044 PMID:26386247 PMID:26437029 PMID:28125082 PMID:28492532 PMID:29068549 PMID:30120217 PMID:32381069 PMID:32581362 PMID:36788019 PMID:39033378 More...
NCBI chr 8:33,771,357...33,880,910
Ensembl chr 8:33,771,504...33,880,877
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KIAA0586
KIAA0586 ortholog
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 PMID:26096313 PMID:26166481 PMID:26386044 PMID:26386247 PMID:26437029 PMID:28125082 PMID:28492532 PMID:29068549 PMID:30120217 PMID:32381069 PMID:32581362 PMID:36788019 PMID:39033378 More...
NCBI chr14:39,019,518...39,139,460
Ensembl chr14:57,288,938...57,405,726
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Kiaa0586
KIAA0586 ortholog
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 PMID:26096313 PMID:26166481 PMID:26386044 PMID:26386247 PMID:26437029 PMID:28125082 PMID:28492532 PMID:29068549 PMID:30120217 PMID:32381069 PMID:32581362 PMID:36788019 PMID:39033378 More...
NCBI chrNW_004955466:12,125,559...12,240,991
Ensembl chrNW_004955466:12,126,184...12,243,170
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Kiaa0586
KIAA0586 homolog
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 PMID:26096313 PMID:26166481 PMID:26386044 PMID:26386247 PMID:26437029 PMID:28125082 PMID:28492532 PMID:29068549 PMID:30120217 PMID:32381069 PMID:32581362 PMID:36788019 PMID:39033378 More...
NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
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KIAA0586
KIAA0586
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 PMID:26096313 PMID:26166481 PMID:26386044 PMID:26386247 PMID:26437029 PMID:28125082 PMID:28492532 PMID:29068549 PMID:30120217 PMID:32381069 PMID:32581362 PMID:36788019 PMID:39033378 More...
NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297
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Kif4
kinesin family member 4
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr X:99,669,693...99,770,878
Ensembl chr X:99,669,343...99,770,820
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Kif4a
kinesin family member 4A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chrNW_004624903:261,084...386,670
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KIF4A
kinesin family member 4A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr X:60,135,371...60,266,301
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KIF4A
kinesin family member 4A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr X:56,319,453...56,447,560
Ensembl chr X:56,319,529...56,447,553
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Kif4a
kinesin family member 4A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chrNW_004936762:1,062,570...1,194,192
Ensembl chrNW_004936762:1,061,526...1,187,863
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KIF4A
kinesin family member 4A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr X:54,739,082...54,863,818
Ensembl chr X:54,739,419...54,863,833
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KIF4A
kinesin family member 4A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr X:59,558,491...59,688,711
Ensembl chr X:69,618,244...69,746,235
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Kif4a
kinesin family member 4A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chrNW_004955475:9,845,633...9,969,965
Ensembl chrNW_004955475:9,845,633...9,970,564
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Kif4a
kinesin family member 4A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr X:69,761,803...69,864,335
Ensembl chr X:65,721,779...65,824,139
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KIF4A
kinesin family member 4A
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
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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N
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 chrNW_004624946:512,413...533,669
Ensembl chrNW_004624946:513,297...525,009
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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:128,285,128...128,309,173
Ensembl chr X:128,285,130...128,299,570
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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:124,595,649...124,618,292
Ensembl chr X:124,595,651...124,618,269
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S
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 chrNW_004936809:736,385...768,822
Ensembl chrNW_004936809:736,319...761,973
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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:121,708,695...121,722,819
Ensembl chr X:121,708,894...121,733,365
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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:143,412,303...143,437,090
Ensembl chr X:153,298,690...153,324,228
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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 chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486
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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:156,748,597...156,775,116
Ensembl chr X:151,597,277...151,623,857
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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:72,897,384...72,924,843
Ensembl chr X:72,897,384...72,939,711
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L1CAM
L1 cell adhesion molecule
IAGP
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:153,861,514...153,886,173
Ensembl chr X:153,861,514...153,886,173
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LOC100525876
ATPase family AAA domain-containing protein 3
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31727539
NCBI chr 6:63,706,155...63,721,574
Ensembl chr 6:63,701,460...63,721,573
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LOC101715424
tubulin alpha-1B chain-like
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chrNW_004624816:3,001,252...3,006,166
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LOC101972766
tubulin alpha-1A chain
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chrNW_004936512:6,959,656...6,964,299
Ensembl chrNW_004936512:6,958,985...6,964,299
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LOC103238261
tubulin alpha-1A chain
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr11:45,419,046...45,423,574
Ensembl chr11:45,418,748...45,423,685
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LOC130000962
ATAC-STARR-seq lymphoblastoid silent region 19465
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31785787
NCBI chr 8:106,657,891...106,658,140
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LOC130001468
ATAC-STARR-seq lymphoblastoid silent region 19733
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:2,622,192...2,622,461
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LOC130001471
ATAC-STARR-seq lymphoblastoid silent region 19736
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:2,645,714...2,645,763
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LOC610636
tubulin alpha-1B chain
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr37:25,811,491...25,818,838
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N
Macf1
microtubule actin crosslinking factor 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chrNW_004624764:21,663,516...22,015,866
Ensembl chrNW_004624764:21,782,162...22,014,676
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MACF1
microtubule actin crosslinking factor 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr20:93,413,111...93,814,388
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MACF1
microtubule actin crosslinking factor 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 6:94,960,385...95,318,126
Ensembl chr 6:94,960,364...95,318,281
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S
Macf1
microtubule actin crosslinking factor 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chrNW_004936474:21,053,755...21,401,336
Ensembl chrNW_004936474:21,178,791...21,400,147
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MACF1
microtubule actin crosslinking factor 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr15:3,361,887...3,703,891
Ensembl chr15:3,362,867...3,573,325
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MACF1
microtubule actin crosslinking factor 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 1:38,369,021...38,771,911
Ensembl chr 1:39,820,394...40,096,558
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Macf1
microtubule actin crosslinking factor 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chrNW_004955452:16,684,784...17,025,940
Ensembl chrNW_004955452:16,798,911...17,024,732
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Macf1
microtubule-actin crosslinking factor 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 5:140,908,829...141,234,127
Ensembl chr 5:135,623,742...135,945,905
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Macf1
microtubule-actin crosslinking factor 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 4:123,243,386...123,581,594
Ensembl chr 4:123,243,426...123,581,331
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H
MACF1
microtubule actin crosslinking factor 1
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 1:39,084,167...39,487,138
Ensembl chr 1:39,081,316...39,487,177
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Ophn1
oligophrenin 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31474318
NCBI chrNW_004624891:1,907,233...2,429,714
Ensembl chrNW_004624891:1,908,044...2,425,144
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OPHN1
oligophrenin 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31474318
NCBI chr X:57,906,868...58,291,358
Ensembl chr X:57,911,555...58,290,900
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OPHN1
oligophrenin 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31474318
NCBI chr X:54,056,504...54,617,045
Ensembl chr X:54,055,092...54,616,959
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S
Ophn1
oligophrenin 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31474318
NCBI chrNW_004936635:6,966...243,209
Ensembl chrNW_004936635:6,923...244,408
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D
OPHN1
oligophrenin 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31474318
NCBI chr X:52,418,390...52,983,155
Ensembl chr X:52,455,373...52,982,244
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B
OPHN1
oligophrenin 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31474318
NCBI chr X:57,288,297...57,674,685
Ensembl chr X:67,359,364...67,739,114
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C
Ophn1
oligophrenin 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31474318
NCBI chrNW_004955475:7,576,629...8,019,132
Ensembl chrNW_004955475:7,581,675...8,018,139
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R
Ophn1
oligophrenin 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31474318
NCBI chr X:67,639,956...68,018,217
Ensembl chr X:63,603,042...63,976,633
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M
Ophn1
oligophrenin 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31474318
NCBI chr X:97,597,886...97,934,691
Ensembl chr X:97,597,883...97,934,631
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H
OPHN1
oligophrenin 1
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31474318
NCBI chr X:68,042,344...68,433,841
Ensembl chr X:67,949,349...68,433,913
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N
Oxr1
oxidation resistance 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31785787
NCBI chrNW_004624763:22,008,477...22,344,330
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G
OXR1
oxidation resistance 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31785787
NCBI chr 8:101,059,060...101,534,283
Ensembl chr 8:101,361,828...101,535,932
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OXR1
oxidation resistance 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31785787
NCBI chr 4:30,735,844...31,254,952
Ensembl chr 4:30,734,514...31,400,997
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S
Oxr1
oxidation resistance 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31785787
NCBI chrNW_004936470:37,734,149...38,137,252
Ensembl chrNW_004936470:37,734,147...38,137,679
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D
OXR1
oxidation resistance 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31785787
NCBI chr13:7,220,959...7,580,881
Ensembl chr13:7,220,958...7,579,473
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B
OXR1
oxidation resistance 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31785787
NCBI chr 8:102,904,139...103,392,971
Ensembl chr 8:105,143,466...105,685,965
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C
Oxr1
oxidation resistance 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31785787
NCBI chrNW_004955417:29,605,962...29,875,041
Ensembl chrNW_004955417:29,605,916...29,875,041
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R
Oxr1
oxidation resistance 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31785787
NCBI chr 7:74,413,609...74,850,487
Ensembl chr 7:72,528,786...72,965,666
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M
Oxr1
oxidation resistance 1
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31785787
NCBI chr15:41,310,745...41,724,447
Ensembl chr15:41,310,878...41,724,444
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H
OXR1
oxidation resistance 1
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31785787
NCBI chr 8:106,270,178...106,752,694
Ensembl chr 8:106,270,144...106,752,694
G
N
Pla2g6
phospholipase A2 group VI
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:16783378 PMID:32581362
NCBI chrNW_004624752:9,792,778...9,841,817
Ensembl chrNW_004624752:9,792,807...9,843,457
G
G
PLA2G6
phospholipase A2 group VI
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:16783378 PMID:32581362
NCBI chr19:20,818,575...20,884,243
G
P
PLA2G6
phospholipase A2 group VI
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:16783378 PMID:32581362
NCBI chr 5:9,713,809...9,777,921
Ensembl chr 5:9,713,873...9,777,918
G
S
Pla2g6
phospholipase A2 group VI
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:16783378 PMID:32581362
NCBI chrNW_004936492:3,011,752...3,060,962
Ensembl chrNW_004936492:3,011,772...3,060,986
G
D
PLA2G6
phospholipase A2 group VI
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:16783378 PMID:32581362
NCBI chr10:26,499,033...26,559,533
Ensembl chr10:26,509,695...26,634,087
G
B
PLA2G6
phospholipase A2 group VI
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:16783378 PMID:32581362
NCBI chr22:18,998,060...19,094,507
Ensembl chr22:36,849,794...36,919,509 Ensembl chr22:36,849,794...36,919,509
G
C
Pla2g6
phospholipase A2 group VI
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:16783378 PMID:32581362
NCBI chrNW_004955413:24,431,592...24,482,229
Ensembl chrNW_004955413:24,429,589...24,482,537
G
R
Pla2g6
phospholipase A2 group VI
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:16783378 PMID:32581362
NCBI chr 7:112,731,803...112,771,978
Ensembl chr 7:110,851,378...110,891,114
G
M
Pla2g6
phospholipase A2, group VI
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:16783378 PMID:32581362
NCBI chr15:79,170,428...79,212,915
Ensembl chr15:79,170,428...79,212,590
G
H
PLA2G6
phospholipase A2 group VI
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:16783378 PMID:32581362
NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778
G
N
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: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:24424129 PMID:25333069 PMID:25355454 PMID:25741868 PMID:26014514 PMID:26488408 PMID:28373276 PMID:28492532 PMID:28940310 PMID:30061496 PMID:30740725 PMID:31474318 PMID:32581362 PMID:32860008 More...
NCBI chrNW_004624824:6,214,193...6,244,590
G
G
PMM2
phosphomannomutase 2
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 PMID:10571956 PMID: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:24424129 PMID:25333069 PMID:25355454 PMID:25741868 PMID:26014514 PMID:26488408 PMID:28373276 PMID:28492532 PMID:28940310 PMID:30061496 PMID:30740725 PMID:31474318 PMID:32581362 PMID:32860008 More...
NCBI chr 5:8,389,483...8,425,605
Ensembl chr 5:8,389,754...8,423,346
G
P
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: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:24424129 PMID:25333069 PMID:25355454 PMID:25741868 PMID:26014514 PMID:26488408 PMID:28373276 PMID:28492532 PMID:28940310 PMID:30061496 PMID:30740725 PMID:31474318 PMID:32581362 PMID:32860008 More...
NCBI chr 3:33,857,059...33,892,472
Ensembl chr 3:33,857,068...33,892,701
G
S
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: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:24424129 PMID:25333069 PMID:25355454 PMID:25741868 PMID:26014514 PMID:26488408 PMID:28373276 PMID:28492532 PMID:28940310 PMID:30061496 PMID:30740725 PMID:31474318 PMID:32581362 PMID:32860008 More...
NCBI chrNW_004936530:7,630,668...7,648,658
Ensembl chrNW_004936530:7,630,637...7,648,676
G
D
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: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:24424129 PMID:25333069 PMID:25355454 PMID:25741868 PMID:26014514 PMID:26488408 PMID:28373276 PMID:28492532 PMID:28940310 PMID:30061496 PMID:30740725 PMID:31474318 PMID:32581362 PMID:32860008 More...
NCBI chr 6:33,346,969...33,371,095
Ensembl chr 6:33,347,270...33,371,025
G
B
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: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:24424129 PMID:25333069 PMID:25355454 PMID:25741868 PMID:26014514 PMID:26488408 PMID:28373276 PMID:28492532 PMID:28940310 PMID:30061496 PMID:30740725 PMID:31474318 PMID:32581362 PMID:32860008 More...
NCBI chr16:7,731,266...7,782,871
Ensembl chr16:8,971,692...9,020,406
G
C
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: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:24424129 PMID:25333069 PMID:25355454 PMID:25741868 PMID:26014514 PMID:26488408 PMID:28373276 PMID:28492532 PMID:28940310 PMID:30061496 PMID:30740725 PMID:31474318 PMID:32581362 PMID:32860008 More...
NCBI chrNW_004955442:9,390,789...9,411,722
Ensembl chrNW_004955442:9,389,443...9,411,719
G
R
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: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:24424129 PMID:25333069 PMID:25355454 PMID:25741868 PMID:26014514 PMID:26488408 PMID:28373276 PMID:28492532 PMID:28940310 PMID:30061496 PMID:30740725 PMID:31474318 PMID:32581362 PMID:32860008 More...
NCBI chr10:7,468,371...7,489,574
Ensembl chr10:6,961,709...6,983,098
G
M
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: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:24424129 PMID:25333069 PMID:25355454 PMID:25741868 PMID:26014514 PMID:26488408 PMID:28373276 PMID:28492532 PMID:28940310 PMID:30061496 PMID:30740725 PMID:31474318 PMID:32581362 PMID:32860008 More...
NCBI chr16:8,455,467...8,475,472
Ensembl chr16:8,455,538...8,480,331
G
H
PMM2
phosphomannomutase 2
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 PMID:10571956 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:24424129 PMID:25333069 PMID:25355454 PMID:25741868 PMID:26014514 PMID:26488408 PMID:28373276 PMID:28492532 PMID:28940310 PMID:30061496 PMID:30740725 PMID:31474318 PMID:32581362 PMID:32860008 More...
NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534
G
N
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 chrNW_004624799:6,728,967...6,804,846
Ensembl chrNW_004624799:6,728,610...6,803,716
G
G
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 chr13:11,995,422...12,068,150
Ensembl chr13:11,995,453...12,068,138
G
P
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 1:55,906,508...55,982,094
Ensembl chr 1:55,893,480...55,982,068
G
S
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 chrNW_004936510:4,281,847...4,343,271
Ensembl chrNW_004936510:4,281,626...4,343,276
G
D
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 chr12:46,993,787...47,047,295
Ensembl chr12:46,992,959...47,047,240
G
B
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 6:85,391,061...85,466,888
Ensembl chr 6:88,665,543...88,741,371
G
C
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 chrNW_004955411:14,470,479...14,527,895
Ensembl chrNW_004955411:14,470,479...14,527,895
G
R
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
G
M
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 4:34,614,941...34,660,167
Ensembl chr 4:34,614,957...34,660,167
G
H
RARS2
arginyl-tRNA synthetase 2, mitochondrial
IAGP
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 6:87,513,938...87,589,987
Ensembl chr 6:87,513,459...87,590,028
G
N
Sema6b
semaphorin 6B
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chrNW_004624828:5,170,745...5,193,568
Ensembl chrNW_004624828:5,182,812...5,192,486
G
G
SEMA6B
semaphorin 6B
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 6:4,276,548...4,304,738
G
P
SEMA6B
semaphorin 6B
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 2:74,262,303...74,296,386
Ensembl chr 2:74,258,439...74,296,385
G
S
Sema6b
semaphorin 6B
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chrNW_004936588:2,642,730...2,654,520
Ensembl chrNW_004936588:2,642,859...2,653,742
G
D
SEMA6B
semaphorin 6B
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr20:55,151,913...55,173,434
Ensembl chr20:55,161,818...55,173,135
G
B
SEMA6B
semaphorin 6B
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr19:3,562,673...3,600,981
G
C
Sema6b
semaphorin 6B
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chrNW_004955495:4,387,147...4,399,430
Ensembl chrNW_004955495:4,388,516...4,399,313
G
R
Sema6b
semaphorin 6B
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 9:1,038,103...1,055,063
Ensembl chr 9:950,939...961,521
G
M
Sema6b
sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr17:56,430,085...56,447,343
Ensembl chr17:56,430,085...56,447,343
G
H
SEMA6B
semaphorin 6B
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr19:4,542,593...4,559,684
Ensembl chr19:4,542,588...4,581,776
G
N
Sepsecs
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chrNW_004624755:7,211,598...7,250,748
Ensembl chrNW_004624755:7,211,584...7,250,748
G
G
SEPSECS
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chr27:25,202,150...25,242,782
Ensembl chr27:25,202,506...25,243,330
G
P
SEPSECS
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chr 8:19,097,788...19,162,246
Ensembl chr 8:19,097,456...19,136,222
G
S
Sepsecs
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chrNW_004936477:4,335,945...4,368,117
Ensembl chrNW_004936477:4,336,059...4,368,901
G
D
SEPSECS
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chr 3:85,071,011...85,106,272
Ensembl chr 3:85,069,742...85,102,347
G
B
SEPSECS
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chr 4:19,517,552...19,558,454
Ensembl chr 4:24,802,260...24,842,816
G
C
Sepsecs
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chrNW_004955443:19,759,772...19,859,188
Ensembl chrNW_004955443:19,822,811...19,863,495
G
R
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
G
M
Sepsecs
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chr 5:52,797,431...52,827,104
Ensembl chr 5:52,797,429...52,827,050
G
H
SEPSECS
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868
NCBI chr 4:25,120,014...25,160,582
Ensembl chr 4:25,120,014...25,160,550
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N
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 PMID:36474027 More...
NCBI chrNW_004624730:74,187,981...74,277,857
Ensembl chrNW_004624730:74,187,995...74,277,200
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G
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 PMID:36474027 More...
NCBI chr22:8,421,178...8,567,221
Ensembl chr22:8,420,960...8,567,201
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P
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 PMID:36474027 More...
NCBI chr13:29,884,708...29,996,285
Ensembl chr13:29,884,719...29,996,359
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S
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 PMID:36474027 More...
NCBI chrNW_004936596:795,940...898,823
Ensembl chrNW_004936596:796,601...883,373
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D
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 PMID:36474027 More...
NCBI chr20:41,675,539...41,800,697
Ensembl chr20:41,675,599...41,800,612
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B
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 PMID:36474027 More...
NCBI chr 3:46,916,615...47,064,046
Ensembl chr 3:48,018,517...48,163,999
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C
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 PMID:36474027 More...
NCBI chrNW_004955420:25,070,626...25,178,410
Ensembl chrNW_004955420:25,090,798...25,177,760
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R
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 PMID:36474027 More...
NCBI chr 8:119,390,207...119,475,863
Ensembl chr 8:110,511,772...110,597,489
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M
Setd2
SET domain containing 2
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532 PMID:29276005 PMID:31474318 PMID:32710489 PMID:36474027 More...
NCBI chr 9:110,361,368...110,447,703
Ensembl chr 9:110,358,262...110,447,701
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H
SETD2
SET domain containing 2, histone lysine methyltransferase
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532 PMID:29276005 PMID:31474318 PMID:32710489 PMID:36474027 More...
NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113
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N
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 chrNW_004624760:6,331,554...6,388,953
Ensembl chrNW_004624760:6,331,554...6,386,216
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G
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 chr12:9,503,752...9,585,297
Ensembl chr12:9,503,367...9,585,268
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P
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 1:268,936,120...269,002,261
Ensembl chr 1:268,936,025...269,002,256
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S
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 chrNW_004936487:16,071,043...16,142,662
Ensembl chrNW_004936487:16,070,996...16,142,662
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D
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 9:54,953,751...55,015,475
Ensembl chr 9:54,953,747...55,015,376
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B
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 9:99,674,819...99,755,973
Ensembl chr 9:128,341,739...128,422,971
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C
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 chrNW_004955570:1,016,510...1,076,499
Ensembl chrNW_004955570:1,016,510...1,076,499
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R
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 3:33,639,020...33,703,890
Ensembl chr 3:13,241,217...13,306,046
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M
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 2:29,855,572...29,921,463
Ensembl chr 2:29,855,572...29,921,463
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H
SPTAN1
spectrin alpha, non-erythrocytic 1
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:29050398 PMID:31474318 PMID:32963807
NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662
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N
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 chrNW_004624760:7,843,741...7,914,444
Ensembl chrNW_004624760:7,842,640...7,914,484
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G
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 chr12:10,440,061...10,519,798
Ensembl chr12:10,439,801...10,519,777
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P
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 1:268,116,124...268,205,805
Ensembl chr 1:268,116,120...268,205,778
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S
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 chrNW_004936487:15,300,758...15,367,475
Ensembl chrNW_004936487:15,300,952...15,365,713
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D
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 9:55,690,939...55,768,008
Ensembl chr 9:55,678,264...55,727,680
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B
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 9:98,731,527...98,811,608
Ensembl chr 9:127,434,080...127,486,152
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C
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 chrNW_004955419:963,829...1,000,759
Ensembl chrNW_004955419:963,829...1,000,759
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R
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 3:36,474,428...36,536,120
Ensembl chr 3:16,076,391...16,138,369
G
M
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 2:32,677,619...32,737,249
Ensembl chr 2:32,677,614...32,737,257
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H
STXBP1
syntaxin binding protein 1
IAGP
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 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027
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N
Tmlhe
trimethyllysine hydroxylase, epsilon
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chrNW_004624980:310,630...407,364
Ensembl chrNW_004624980:310,426...406,972
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G
TMLHE
trimethyllysine hydroxylase, epsilon
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr X:129,628,788...129,729,616
Ensembl chr X:129,626,286...129,729,592
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P
TMLHE
trimethyllysine hydroxylase, epsilon
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr X:125,601,920...125,673,716
Ensembl chr X:125,598,116...125,673,669
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S
Tmlhe
trimethyllysine hydroxylase, epsilon
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chrNW_004936958:64,713...113,627
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D
TMLHE
trimethyllysine hydroxylase, epsilon
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr X:123,322,773...123,438,999
Ensembl chr X:123,324,729...123,438,947
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B
TMLHE
trimethyllysine hydroxylase, epsilon
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr X:144,956,906...145,081,204
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C
Tmlhe
trimethyllysine hydroxylase, epsilon
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chrNW_004955594:272,668...329,997
Ensembl chrNW_004955594:272,646...331,757
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R
Tmlhe
trimethyllysine hydroxylase, epsilon
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr20:96,561...144,414
Ensembl chr20:91,272...140,386
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M
Tmlhe
trimethyllysine hydroxylase, epsilon
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
G
H
TMLHE
trimethyllysine hydroxylase, epsilon
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
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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N
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 chrNW_004624801:5,320,482...5,329,125
Ensembl chrNW_004624801:5,320,556...5,329,131
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G
TSEN54
tRNA splicing endonuclease subunit 54
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID: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 chr16:46,152,547...46,162,328
Ensembl chr16:46,152,869...46,161,379
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P
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 chr12:5,847,170...5,855,791
Ensembl chr12:5,847,187...5,854,882
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S
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 chrNW_004936594:744,531...753,350
Ensembl chrNW_004936594:744,494...753,350
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D
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 chr 9:5,009,468...5,016,513
Ensembl chr 9:5,009,468...5,016,483
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B
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 chr17:69,465,488...69,474,667
Ensembl chr17:75,017,351...75,025,166
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C
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 chrNW_004955553:2,367,476...2,376,704
Ensembl chrNW_004955553:2,367,480...2,376,704
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R
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
G
M
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 chr11:115,704,563...115,713,928
Ensembl chr11:115,705,550...115,713,920
G
H
TSEN54
tRNA splicing endonuclease subunit 54
IAGP
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 chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735
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P
TUBA1A
tubulin alpha 1a
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 5:15,186,059...15,190,211
Ensembl chr 5:15,185,532...15,190,428
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R
Tuba1a
tubulin, alpha 1A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr 7:131,992,151...131,996,850
Ensembl chr 7:130,081,032...130,196,186
G
M
Tuba1a
tubulin, alpha 1A
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr15:98,847,728...98,851,382
Ensembl chr15:98,847,718...98,851,584
G
H
TUBA1A
tubulin alpha 1a
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:31474318
NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324
G
D
TUBB2A
tubulin beta 2A class IIa
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:24702957 PMID:25741868 PMID:31474318
NCBI chr35:3,448,402...3,450,783
Ensembl chr35:3,448,435...3,452,091
G
B
TUBB2A
tubulin beta 2A class IIa
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:24702957 PMID:25741868 PMID:31474318
NCBI chr 6:2,993,653...2,997,570
Ensembl chr 6:3,080,751...3,255,882
G
R
Tubb2a
tubulin, beta 2A class IIa
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:24702957 PMID:25741868 PMID:31474318
NCBI chr17:31,002,186...31,006,057
Ensembl chr17:30,747,503...30,800,714
G
M
Tubb2a
tubulin, beta 2A class IIA
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:24702957 PMID:25741868 PMID:31474318
NCBI chr13:34,258,261...34,261,991
Ensembl chr13:34,258,257...34,261,990
G
H
TUBB2A
tubulin beta 2A class IIa
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:24702957 PMID:25741868 PMID:31474318
NCBI chr 6:3,153,666...3,157,544
Ensembl chr 6:3,153,497...3,157,544
G
N
Vldlr
very low density lipoprotein receptor
ISO
ClinVar Annotator: match by term: Cerebellar hypoplasia | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:18414213 PMID:22973972 PMID:25741868 PMID:28492532
NCBI chrNW_004624736:7,280,478...7,316,897
Ensembl chrNW_004624736:7,280,490...7,316,946
G
G
VLDLR
very low density lipoprotein receptor
ISO
ClinVar Annotator: match by term: Cerebellar hypoplasia | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:18414213 PMID:22973972 PMID:25741868 PMID:28492532
NCBI chr12:76,900,551...76,933,601
Ensembl chr12:76,899,189...76,933,584
G
P
VLDLR
very low density lipoprotein receptor
ISO
ClinVar Annotator: match by term: Cerebellar hypoplasia | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:18414213 PMID:22973972 PMID:25741868 PMID:28492532
NCBI chr 1:219,178,501...219,210,332
Ensembl chr 1:219,173,507...219,210,343
G
S
Vldlr
very low density lipoprotein receptor
ISO
ClinVar Annotator: match by term: Cerebellar hypoplasia | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:18414213 PMID:22973972 PMID:25741868 PMID:28492532
NCBI chrNW_004936503:2,407,040...2,440,366
Ensembl chrNW_004936503:2,405,689...2,440,502
G
D
VLDLR
very low density lipoprotein receptor
ISO
ClinVar Annotator: match by term: Cerebellar hypoplasia | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:18414213 PMID:22973972 PMID:25741868 PMID:28492532
NCBI chr 1:91,242,010...91,277,030
Ensembl chr 1:91,241,509...91,272,495
G
B
VLDLR
very low density lipoprotein receptor
ISO
ClinVar Annotator: match by term: Cerebellar hypoplasia | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:18414213 PMID:22973972 PMID:25741868 PMID:28492532
NCBI chr 9:2,428,639...2,463,796
Ensembl chr 9:2,621,199...2,653,980
G
C
Vldlr
very low density lipoprotein receptor
ISO
ClinVar Annotator: match by term: Cerebellar hypoplasia | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:18414213 PMID:22973972 PMID:25741868 PMID:28492532
NCBI chrNW_004955434:7,013,092...7,050,103
Ensembl chrNW_004955434:7,013,092...7,050,103
G
R
Vldlr
very low density lipoprotein receptor
ISO
ClinVar Annotator: match by term: Cerebellar hypoplasia | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:18414213 PMID:22973972 PMID:25741868 PMID:28492532
NCBI chr 1:234,239,769...234,272,150
Ensembl chr 1:224,814,377...224,845,920
G
M
Vldlr
very low density lipoprotein receptor
ISO
ClinVar Annotator: match by term: Cerebellar hypoplasia | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:18414213 PMID:22973972 PMID:25741868 PMID:28492532
NCBI chr19:27,190,070...27,231,631
Ensembl chr19:27,193,884...27,231,631
G
H
VLDLR
very low density lipoprotein receptor
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia ClinVar Annotator: match by term: Cerebellar hypoplasia
ClinVar
PMID:18414213 PMID:22973972 PMID:25741868 PMID:28492532
NCBI chr 9:2,621,787...2,660,056
Ensembl chr 9:2,621,182...2,660,056
G
H
VLDLR-AS1
VLDLR antisense RNA 1
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:2,535,652...2,622,373
Ensembl chr 9:2,301,072...2,622,457
G
N
Wdr37
WD repeat domain 37
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 PMID:31491411 PMID:31780822 More...
NCBI chrNW_004624775:9,768,568...9,858,085
Ensembl chrNW_004624775:9,768,397...9,857,837
G
G
WDR37
WD repeat domain 37
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 PMID:31491411 PMID:31780822 More...
NCBI chr 9:1,011,478...1,085,569
Ensembl chr 9:1,011,726...1,082,773
G
P
WDR37
WD repeat domain 37
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 PMID:31491411 PMID:31780822 More...
NCBI chr10:68,416,058...68,529,662
Ensembl chr10:68,427,192...68,535,143
G
S
Wdr37
WD repeat domain 37
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 PMID:31491411 PMID:31780822 More...
NCBI chrNW_004936484:12,948,803...13,020,555
Ensembl chrNW_004936484:12,948,358...13,018,631
G
D
WDR37
WD repeat domain 37
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 PMID:31491411 PMID:31780822 More...
NCBI chr 2:33,865,534...33,912,119
Ensembl chr 2:33,682,418...33,923,843
G
B
WDR37
WD repeat domain 37
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 PMID:31491411 PMID:31780822 More...
NCBI chr10:1,093,957...1,172,209
Ensembl chr10:1,140,562...1,217,263
G
C
Wdr37
WD repeat domain 37
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 PMID:31491411 PMID:31780822 More...
NCBI chrNW_004955421:30,097,046...30,161,762
Ensembl chrNW_004955421:30,068,306...30,161,762
G
R
Wdr37
WD repeat domain 37
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 PMID:31491411 PMID:31780822 More...
NCBI chr17:66,547,425...66,613,841
Ensembl chr17:61,637,258...61,703,677
G
M
Wdr37
WD repeat domain 37
ISO
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 PMID:31491411 PMID:31780822 More...
NCBI chr13:8,853,002...8,922,136
Ensembl chr13:8,853,004...8,921,945
G
H
WDR37
WD repeat domain 37
IAGP
ClinVar Annotator: match by term: Congenital cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:31327508 PMID:31327510 PMID:31474318 PMID:31491411 PMID:31780822 More...
NCBI chr10:1,056,385...1,132,372
Ensembl chr10:1,049,538...1,160,991
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Oxr1
oxidation resistance 1
ISO
ClinVar Annotator: match by term: OXR1-related condition
OMIM ClinVar
PMID:25741868
NCBI chrNW_004624763:22,008,477...22,344,330
G
G
OXR1
oxidation resistance 1
ISO
ClinVar Annotator: match by term: OXR1-related condition
OMIM ClinVar
PMID:25741868
NCBI chr 8:101,059,060...101,534,283
Ensembl chr 8:101,361,828...101,535,932
G
P
OXR1
oxidation resistance 1
ISO
ClinVar Annotator: match by term: OXR1-related condition
OMIM ClinVar
PMID:25741868
NCBI chr 4:30,735,844...31,254,952
Ensembl chr 4:30,734,514...31,400,997
G
S
Oxr1
oxidation resistance 1
ISO
ClinVar Annotator: match by term: OXR1-related condition
OMIM ClinVar
PMID:25741868
NCBI chrNW_004936470:37,734,149...38,137,252
Ensembl chrNW_004936470:37,734,147...38,137,679
G
D
OXR1
oxidation resistance 1
ISO
ClinVar Annotator: match by term: OXR1-related condition
OMIM ClinVar
PMID:25741868
NCBI chr13:7,220,959...7,580,881
Ensembl chr13:7,220,958...7,579,473
G
B
OXR1
oxidation resistance 1
ISO
ClinVar Annotator: match by term: OXR1-related condition
OMIM ClinVar
PMID:25741868
NCBI chr 8:102,904,139...103,392,971
Ensembl chr 8:105,143,466...105,685,965
G
C
Oxr1
oxidation resistance 1
ISO
ClinVar Annotator: match by term: OXR1-related condition
OMIM ClinVar
PMID:25741868
NCBI chrNW_004955417:29,605,962...29,875,041
Ensembl chrNW_004955417:29,605,916...29,875,041
G
R
Oxr1
oxidation resistance 1
ISO
ClinVar Annotator: match by term: OXR1-related condition
OMIM ClinVar
PMID:25741868
NCBI chr 7:74,413,609...74,850,487
Ensembl chr 7:72,528,786...72,965,666
G
M
Oxr1
oxidation resistance 1
ISO
ClinVar Annotator: match by term: OXR1-related condition
OMIM ClinVar
PMID:25741868
NCBI chr15:41,310,745...41,724,447
Ensembl chr15:41,310,878...41,724,444
G
H
OXR1
oxidation resistance 1
IAGP
ClinVar Annotator: match by term: OXR1-related condition
OMIM ClinVar
PMID:25741868
NCBI chr 8:106,270,178...106,752,694
Ensembl chr 8:106,270,144...106,752,694
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Cdk5
cyclin dependent kinase 5
ISO
ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia
OMIM ClinVar
PMID:25560765 PMID:25741868
NCBI chrNW_004624800:5,562,468...5,566,458
Ensembl chrNW_004624800:5,562,462...5,569,937
G
G
CDK5
cyclin dependent kinase 5
ISO
ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia
OMIM ClinVar
PMID:25560765 PMID:25741868
NCBI chr21:119,235,687...119,240,163
G
P
CDK5
cyclin dependent kinase 5
ISO
ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia
OMIM ClinVar
PMID:25560765 PMID:25741868
NCBI chr18:6,166,914...6,171,157
G
S
Cdk5
cyclin dependent kinase 5
ISO
ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia
OMIM ClinVar
PMID:25560765 PMID:25741868
NCBI chrNW_004936527:6,478,934...6,483,848
Ensembl chrNW_004936527:6,478,982...6,483,866
G
D
CDK5
cyclin dependent kinase 5
ISO
ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia
OMIM ClinVar
PMID:25560765 PMID:25741868
NCBI chr16:15,105,177...15,113,085
Ensembl chr16:15,101,230...15,109,269
G
B
CDK5
cyclin dependent kinase 5
ISO
ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia
OMIM ClinVar
PMID:25560765 PMID:25741868
NCBI chr 7:142,640,630...142,644,785
Ensembl chr 7:154,793,344...154,797,499
G
C
Cdk5
cyclin dependent kinase 5
ISO
ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia
OMIM ClinVar
PMID:25560765 PMID:25741868
NCBI chrNW_004955491:5,491,744...5,497,280
Ensembl chrNW_004955491:5,491,744...5,497,280
G
R
Cdk5
cyclin-dependent kinase 5
ISO
ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia
OMIM ClinVar
PMID:25560765 PMID:25741868
NCBI chr 4:11,647,098...11,651,606
Ensembl chr 4:10,754,687...10,760,112
G
M
Cdk5
cyclin dependent kinase 5
ISO
ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia
OMIM ClinVar
PMID:25560765 PMID:25741868
NCBI chr 5:24,612,595...24,628,737
Ensembl chr 5:24,623,239...24,628,528
G
H
CDK5
cyclin dependent kinase 5
IAGP
ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia
ClinVar OMIM
PMID:25560765 PMID:25741868
NCBI chr 7:151,053,815...151,057,897
Ensembl chr 7:151,053,815...151,057,897
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Ints8
integrator complex subunit 8
ISO
ClinVar Annotator: match by term: INTS8-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28763441
NCBI chrNW_004624763:2,185,841...2,242,469
Ensembl chrNW_004624763:2,186,027...2,242,393
G
G
INTS8
integrator complex subunit 8
ISO
ClinVar Annotator: match by term: INTS8-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28763441
NCBI chr 8:89,790,758...89,846,764
Ensembl chr 8:89,790,758...89,850,755
G
P
INTS8
integrator complex subunit 8
ISO
ClinVar Annotator: match by term: INTS8-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28763441
NCBI chr 4:41,820,718...41,878,857
Ensembl chr 4:41,821,768...41,878,690
G
S
Ints8
integrator complex subunit 8
ISO
ClinVar Annotator: match by term: INTS8-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28763441
NCBI chrNW_004936544:7,784,093...7,839,646
Ensembl chrNW_004936544:7,784,242...7,839,565
G
D
INTS8
integrator complex subunit 8
ISO
ClinVar Annotator: match by term: INTS8-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28763441
NCBI chr29:39,482,834...39,533,761
Ensembl chr29:39,474,640...39,533,719
G
B
INTS8
integrator complex subunit 8
ISO
ClinVar Annotator: match by term: INTS8-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28763441
NCBI chr 8:91,442,560...91,499,916
Ensembl chr 8:93,645,053...93,702,373
G
C
Ints8
integrator complex subunit 8
ISO
ClinVar Annotator: match by term: INTS8-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28763441
NCBI chrNW_004955417:10,975,716...11,027,697
Ensembl chrNW_004955417:10,975,103...11,027,697
G
R
Ints8
integrator complex subunit 8
ISO
ClinVar Annotator: match by term: INTS8-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28763441
NCBI chr 5:24,295,542...24,344,642
Ensembl chr 5:24,297,191...24,344,740
G
M
Ints8
integrator complex subunit 8
ISO
ClinVar Annotator: match by term: INTS8-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28763441
NCBI chr 4:11,199,158...11,254,264
Ensembl chr 4:11,199,158...11,254,258
G
H
INTS8
integrator complex subunit 8
IAGP
ClinVar Annotator: match by term: INTS8-related condition ClinVar Annotator: match by term: INTS8-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28763441
NCBI chr 8:94,823,287...94,881,746
Ensembl chr 8:94,813,311...94,881,746
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Exoc2
exocyst complex component 2
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
OMIM ClinVar
PMID:25741868 PMID:32639540
NCBI chrNW_004624756:23,740,248...23,878,386
Ensembl chrNW_004624756:23,740,233...23,880,876
G
G
EXOC2
exocyst complex component 2
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
OMIM ClinVar
PMID:25741868 PMID:32639540
NCBI chr17:71,463,836...71,668,429
Ensembl chr17:71,473,962...71,670,095
G
P
EXOC2
exocyst complex component 2
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
OMIM ClinVar
PMID:25741868 PMID:32639540
NCBI chr 7:195,079...341,470
Ensembl chr 7:195,083...341,442
G
S
Exoc2
exocyst complex component 2
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
OMIM ClinVar
PMID:25741868 PMID:32639540
NCBI chrNW_004936633:1,657,326...1,848,113
Ensembl chrNW_004936633:1,657,320...1,848,407
G
D
EXOC2
exocyst complex component 2
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
OMIM ClinVar
PMID:25741868 PMID:32639540
NCBI chr35:859,158...1,084,228
Ensembl chr35:859,837...1,084,228
G
B
EXOC2
exocyst complex component 2
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
OMIM ClinVar
PMID:25741868 PMID:32639540
NCBI chr 6:299,500...504,029
Ensembl chr 6:435,538...583,027
G
C
Exoc2
exocyst complex component 2
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
OMIM ClinVar
PMID:25741868 PMID:32639540
NCBI chrNW_004955465:12,327,423...12,457,171
Ensembl chrNW_004955465:12,330,483...12,461,281
G
R
Exoc2
exocyst complex component 2
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
OMIM ClinVar
PMID:25741868 PMID:32639540
NCBI chr17:33,714,949...33,906,901
Ensembl chr17:33,506,338...33,693,289
G
M
Exoc2
exocyst complex component 2
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
OMIM ClinVar
PMID:25741868 PMID:32639540
NCBI chr13:30,968,421...31,162,082
Ensembl chr13:30,968,416...31,158,076
G
H
EXOC2
exocyst complex component 2
IAGP
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
OMIM ClinVar
PMID:25741868 PMID:32639540
NCBI chr 6:485,154...693,139
Ensembl chr 6:485,154...693,139
G
G
HUS1B
HUS1 checkpoint clamp component B
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
ClinVar
NCBI chr17:71,502,951...71,504,134
G
S
Hus1b
HUS1 checkpoint clamp component B
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
ClinVar
NCBI chrNW_004936633:1,820,063...1,821,150
G
B
HUS1B
HUS1 checkpoint clamp component B
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
ClinVar
NCBI chr 6:466,508...469,590
Ensembl chr 6:601,288...602,124
G
R
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
G
M
Hus1b
HUS1 checkpoint clamp component B
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
ClinVar
NCBI chr13:31,130,559...31,131,744
Ensembl chr13:31,130,556...31,131,742
G
H
HUS1B
HUS1 checkpoint clamp component B
IAGP
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
ClinVar
NCBI chr 6:655,939...657,100
Ensembl chr 6:655,939...657,100
G
H
LOC126859547
CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:563721-564920
IAGP
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
ClinVar
PMID:32639540
NCBI chr 6:563,721...564,920
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
H
LOC130002869
ATAC-STARR-seq lymphoblastoid active region 29216
IAGP
ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
ClinVar
NCBI chr 9:132,079,764...132,080,043
G
N
Med27
mediator complex subunit 27
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
OMIM ClinVar
PMID:33443317
NCBI chrNW_004624760:4,137,897...4,324,173
Ensembl chrNW_004624760:4,137,858...4,324,266
G
G
MED27
mediator complex subunit 27
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
OMIM ClinVar
PMID:33443317
NCBI chr12:6,062,604...6,281,039
Ensembl chr12:6,062,569...6,281,050
G
P
MED27
mediator complex subunit 27
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
OMIM ClinVar
PMID:33443317
NCBI chr 1:271,724,910...271,928,367
Ensembl chr 1:271,724,910...271,928,367
G
S
Med27
mediator complex subunit 27
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
OMIM ClinVar
PMID:33443317
NCBI chrNW_004936487:18,523,979...18,711,584
Ensembl chrNW_004936487:18,523,010...18,711,618
G
D
MED27
mediator complex subunit 27
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
OMIM ClinVar
PMID:33443317
NCBI chr 9:52,136,652...52,331,676
Ensembl chr 9:52,136,698...52,328,998
G
B
MED27
mediator complex subunit 27
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
OMIM ClinVar
PMID:33443317
NCBI chr 9:102,982,174...103,199,512
Ensembl chr 9:131,619,441...131,835,951
G
R
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 3:33,027,240...33,201,240
Ensembl chr 3:12,629,603...12,803,339
G
M
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 2:29,236,822...29,414,802
Ensembl chr 2:29,236,831...29,414,805
G
H
MED27
mediator complex subunit 27
IAGP
ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
OMIM ClinVar
PMID:33443317
NCBI chr 9:131,860,112...132,079,867
Ensembl chr 9:131,852,928...132,079,867
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
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:24941924 PMID:25741868 PMID:26210745 PMID:26467025 PMID:26542770 PMID:28492532 PMID:29499199 PMID:30963030 PMID:31355225 PMID:34828281 PMID:35339094 PMID:36537053 More...
NCBI chrNW_004624750:5,527,720...5,598,173
Ensembl chrNW_004624750:5,527,638...5,601,964
G
G
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:24941924 PMID:25741868 PMID:26210745 PMID:26467025 PMID:26542770 PMID:28492532 PMID:29499199 PMID:30963030 PMID:31355225 PMID:34828281 PMID:35339094 PMID:36537053 More...
NCBI chr11:98,065,869...98,140,011
Ensembl chr11:98,063,199...98,139,285
G
P
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:24941924 PMID:25741868 PMID:26210745 PMID:26467025 PMID:26542770 PMID:28492532 PMID:29499199 PMID:30963030 PMID:31355225 PMID:34828281 PMID:35339094 PMID:36537053 More...
NCBI chr 5:81,385,401...81,460,569
Ensembl chr 5:81,385,435...81,463,451
G
S
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:24941924 PMID:25741868 PMID:26210745 PMID:26467025 PMID:26542770 PMID:28492532 PMID:29499199 PMID:30963030 PMID:31355225 PMID:34828281 PMID:35339094 PMID:36537053 More...
NCBI chrNW_004936492:11,342,566...11,412,323
Ensembl chrNW_004936492:11,342,518...11,412,209
G
D
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:24941924 PMID:25741868 PMID:26210745 PMID:26467025 PMID:26542770 PMID:28492532 PMID:29499199 PMID:30963030 PMID:31355225 PMID:34828281 PMID:35339094 PMID:36537053 More...
NCBI chr15:41,590,253...41,670,156
Ensembl chr15:41,592,876...41,670,837
G
B
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:24941924 PMID:25741868 PMID:26210745 PMID:26467025 PMID:26542770 PMID:28492532 PMID:29499199 PMID:30963030 PMID:31355225 PMID:34828281 PMID:35339094 PMID:36537053 More...
NCBI chr12:100,417,267...100,496,888
Ensembl chr12:103,811,761...103,891,726
G
C
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:24941924 PMID:25741868 PMID:26210745 PMID:26467025 PMID:26542770 PMID:28492532 PMID:29499199 PMID:30963030 PMID:31355225 PMID:34828281 PMID:35339094 PMID:36537053 More...
NCBI chrNW_004955405:37,848,486...37,909,163
Ensembl chrNW_004955405:37,846,354...37,909,457
G
R
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:24941924 PMID:25741868 PMID:26210745 PMID:26467025 PMID:26542770 PMID:28492532 PMID:29499199 PMID:30963030 PMID:31355225 PMID:34828281 PMID:35339094 PMID:36537053 More...
NCBI chr 7:23,793,096...23,885,631
Ensembl chr 7:21,933,179...21,998,130
G
M
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:24941924 PMID:25741868 PMID:26210745 PMID:26467025 PMID:26542770 PMID:28492532 PMID:29499199 PMID:30963030 PMID:31355225 PMID:34828281 PMID:35339094 PMID:36537053 More...
NCBI chr10:87,357,657...87,419,999
Ensembl chr10:87,357,657...87,419,998
G
H
PAH
phenylalanine hydroxylase
IAGP
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:24941924 PMID:25741868 PMID:26210745 PMID:26467025 PMID:26542770 PMID:28492532 PMID:29499199 PMID:30963030 PMID:31355225 PMID:34828281 PMID:35339094 PMID:36537053 More...
NCBI chr12:102,836,889...102,958,441
Ensembl chr12:102,836,889...102,958,410
G
N
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 chrNW_004624945:837,877...1,016,041
Ensembl chrNW_004624945:837,864...1,014,684
G
G
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 chr19:4,648,184...4,797,573
Ensembl chr19:4,648,183...4,797,396
G
P
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 chr14:50,390,416...50,491,983
Ensembl chr14:50,390,410...50,491,944
G
S
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 chrNW_004936619:2,240,641...2,377,088
Ensembl chrNW_004936619:2,240,266...2,377,093
G
D
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 chr26:30,630,693...30,749,158
Ensembl chr26:30,630,261...30,749,126
G
B
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 chr22:2,931,523...3,082,475
G
C
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 chrNW_004955442:19,446,955...19,594,790
Ensembl chrNW_004955442:19,446,955...19,598,725
G
R
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 chr11:97,113,390...97,234,374
Ensembl chr11:83,609,069...83,724,080
G
M
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 chr16:17,098,215...17,224,178
Ensembl chr16:17,098,215...17,224,178
G
H
PI4KA
phosphatidylinositol 4-kinase alpha
IAGP
ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
ClinVar OMIM
PMID:25741868 PMID:25855803 PMID:26752647 PMID:28492532 PMID:34415310 PMID:34415322 More...
NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
N
Als2cl
ALS2 C-terminal like
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004624730:74,509,658...74,525,221
G
G
ALS2CL
ALS2 C-terminal like
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:8,093,439...8,116,940
Ensembl chr22:8,091,528...8,110,881
G
P
ALS2CL
ALS2 C-terminal like
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr13:29,596,696...29,618,915
Ensembl chr13:29,596,700...29,618,919
G
S
Als2cl
ALS2 C-terminal like
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004936596:506,088...525,576
Ensembl chrNW_004936596:506,077...525,746
G
D
ALS2CL
ALS2 C-terminal like
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr20:42,067,018...42,091,125
Ensembl chr20:42,066,833...42,088,321
G
B
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 3:46,568,200...46,591,331
Ensembl chr 3:47,671,286...47,695,772
G
C
Als2cl
ALS2 C-terminal like
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004955420:25,440,641...25,455,872
G
R
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 8:119,746,498...119,762,824
Ensembl chr 8:110,864,975...110,884,419
G
M
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 9:110,709,203...110,729,598
Ensembl chr 9:110,708,938...110,729,598
G
H
ALS2CL
ALS2 C-terminal like
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:46,668,995...46,693,679
Ensembl chr 3:46,668,995...46,693,704
G
N
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 chrNW_004624730:2,953,649...3,023,716
Ensembl chrNW_004624730:2,953,669...3,023,042
G
G
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
G
P
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 chr13:31,570,026...31,623,833
Ensembl chr13:31,570,088...31,625,226
G
S
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 chrNW_004936529:648,661...713,616
Ensembl chrNW_004936529:648,675...713,675
G
D
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 chr20:40,178,560...40,230,870
Ensembl chr20:40,179,168...40,230,880
G
B
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 3:48,844,161...48,910,183
Ensembl chr 3:49,926,453...49,991,924
G
C
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 chrNW_004955532:933,749...1,008,619
Ensembl chrNW_004955532:933,749...1,008,619
G
R
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 8:118,175,267...118,234,425
Ensembl chr 8:109,296,738...109,355,852
G
M
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 9:108,480,141...108,531,917
Ensembl chr 9:108,480,141...108,526,585
G
H
ARIH2
ariadne RBR E3 ubiquitin protein ligase 2
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,918,842...48,986,382
Ensembl chr 3:48,918,821...48,986,382
G
P
ARIH2OS
ARIH2 opposite strand lncRNA
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr13:31,569,765...31,570,548
G
H
ARIH2OS
ARIH2 opposite strand lncRNA
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,917,788...48,919,385
Ensembl chr 3:48,917,765...48,918,829
G
D
ATRIP
ATR interacting protein
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr20:40,626,828...40,642,689
Ensembl chr20:40,626,831...40,642,594
G
M
Atrip
ATR interacting protein
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 9:108,888,815...108,903,192
Ensembl chr 9:108,887,001...108,903,192
G
H
ATRIP
ATR interacting protein
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645
G
N
Camp
cathelicidin antimicrobial peptide
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004624730:73,429,893...73,431,104
G
G
CAMP
cathelicidin antimicrobial peptide
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:9,610,180...9,618,629
Ensembl chr22:9,610,298...9,613,016
G
D
CAMP
cathelicidin antimicrobial peptide
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr20:40,790,823...40,792,781
Ensembl chr20:40,790,811...40,792,794
G
B
CAMP
cathelicidin antimicrobial peptide
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,137,785...48,139,893
Ensembl chr 3:49,222,110...49,224,250
G
C
Camp
cathelicidin antimicrobial peptide
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004955420:24,911,920...24,914,698
G
R
Camp
cathelicidin antimicrobial peptide
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:118,720,184...118,721,998
Ensembl chr 8:109,841,729...109,843,543
G
M
Camp
cathelicidin antimicrobial peptide
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 9:109,676,445...109,678,524
Ensembl chr 9:109,676,447...109,678,685
G
H
CAMP
cathelicidin antimicrobial peptide
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,223,495...48,225,485
Ensembl chr 3:48,223,347...48,225,491
G
N
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 chrNW_004624730:74,307,144...74,354,904
Ensembl chrNW_004624730:74,308,926...74,354,904
G
G
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 chr22:8,326,480...8,384,985
Ensembl chr22:8,326,798...8,381,938
G
P
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 chr13:29,785,581...29,846,683
Ensembl chr13:29,786,091...29,846,688
G
S
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 chrNW_004936596:707,841...756,285
Ensembl chrNW_004936596:703,943...756,362
G
D
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 chr20:41,838,497...41,889,902
Ensembl chr20:41,834,095...41,890,482
G
B
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 3:46,822,128...46,882,217
Ensembl chr 3:47,923,673...47,978,660
G
C
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 chrNW_004955420:25,212,888...25,257,733
Ensembl chrNW_004955420:25,212,422...25,257,741
G
R
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
G
M
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 9:110,483,376...110,540,661
Ensembl chr 9:110,485,571...110,540,674
G
H
CCDC12
coiled-coil domain containing 12
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:46,921,730...46,981,994
Ensembl chr 3:46,916,634...46,982,010
G
N
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 chrNW_004624730:2,398,215...2,406,094
Ensembl chrNW_004624730:2,395,664...2,406,062
G
G
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 chr22:9,835,132...9,843,611
Ensembl chr22:9,835,379...9,838,114
G
P
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 chr13:31,143,490...31,153,600
Ensembl chr13:31,143,480...31,153,563
G
S
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 chrNW_004936529:228,135...239,343
Ensembl chrNW_004936529:227,969...239,349
G
D
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 chr20:40,648,356...40,656,855
Ensembl chr20:40,653,852...40,657,619
G
B
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 3:48,354,203...48,362,173
Ensembl chr 3:49,436,988...49,445,819
G
C
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 chrNW_004955532:500,963...509,437
Ensembl chrNW_004955532:500,963...509,325
G
R
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 8:118,601,002...118,619,943
Ensembl chr 8:109,722,557...109,741,472
G
M
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 9:108,911,564...108,922,431
Ensembl chr 9:108,911,561...108,921,557
G
H
CCDC51
coiled-coil domain containing 51
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,432,173...48,446,652
Ensembl chr 3:48,432,164...48,440,456
G
G
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 chr22:7,634,205...7,641,380
G
P
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 chr13:29,227,218...29,233,862
Ensembl chr13:29,227,222...29,233,960
G
D
CCR1
chemokine (C-C motif) receptor 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr20:42,421,356...42,427,177
Ensembl chr20:42,421,356...42,426,958
G
B
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 3:46,107,526...46,114,229
Ensembl chr 3:47,214,688...47,215,755
G
R
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 8:132,433,711...132,439,266
G
M
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 9:123,762,163...123,768,729
Ensembl chr 9:123,762,161...123,768,729
G
H
CCR1
C-C motif chemokine receptor 1
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
G
G
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 chr22:7,795,192...7,801,242
Ensembl chr22:7,798,646...7,799,728
G
P
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 chr13:29,368,735...29,374,564
Ensembl chr13:29,369,122...29,376,343
G
P
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 chr13:29,251,950...29,286,470
Ensembl chr13:29,285,012...29,286,467
G
D
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 chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698
G
B
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 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
G
C
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 chrNW_004955420:25,641,184...25,664,413
G
R
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 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100
G
M
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 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594
G
H
CCR2
C-C motif chemokine receptor 2
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
G
N
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 chrNW_004624730:74,768,668...74,769,749
Ensembl chrNW_004624730:74,768,668...74,769,798
G
G
CCR3
C-C motif chemokine receptor 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:7,648,410...7,698,523
Ensembl chr22:7,697,068...7,698,135
G
S
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 chrNW_004936596:223,660...224,739
Ensembl chrNW_004936596:223,660...224,739
G
D
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 chr20:42,382,380...42,398,449
Ensembl chr20:42,383,135...42,384,217
G
B
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 3:46,147,928...46,172,947
Ensembl chr 3:47,253,878...47,278,630
G
C
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 chrNW_004955420:25,702,917...25,723,269
Ensembl chrNW_004955420:25,701,407...25,723,353
G
R
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 8:132,463,533...132,511,601
Ensembl chr 8:123,616,236...123,634,990
G
M
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 9:123,817,799...123,831,729
Ensembl chr 9:123,822,009...123,831,726
G
H
CCR3
C-C motif chemokine receptor 3
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:46,210,696...46,266,706
Ensembl chr 3:46,130,890...46,266,706
G
G
CCR5
C-C motif chemokine receptor 5
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:7,803,794...7,818,112
G
P
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 chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
G
D
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 chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952
G
B
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 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
G
R
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 8:132,629,097...132,660,980
Ensembl chr 8:123,752,325...123,759,260
G
M
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 9:123,921,557...123,934,153
Ensembl chr 9:123,921,580...123,947,736
G
H
CCR5
C-C motif chemokine receptor 5
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
G
N
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 chrNW_004624730:74,989,725...74,991,400
Ensembl chrNW_004624730:74,990,318...74,996,239
G
G
CCR9
C-C motif chemokine receptor 9
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:7,354,139...7,375,280
Ensembl chr22:7,354,489...7,377,676
G
P
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 chr13:29,033,609...29,051,227
Ensembl chr13:29,033,570...29,054,598
G
S
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 chrNW_004936695:55,788...59,251
Ensembl chrNW_004936695:55,788...59,251
G
D
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 chr20:42,607,024...42,616,823
Ensembl chr20:42,607,024...42,616,823
G
B
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 3:45,719,655...45,810,964
Ensembl chr 3:46,900,845...46,917,443
G
C
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 chrNW_004955420:26,083,445...26,093,740
Ensembl chrNW_004955420:26,083,040...26,093,775
G
R
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 8:132,273,581...132,287,651
Ensembl chr 8:123,395,813...123,413,969
G
M
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 9:123,596,276...123,612,522
Ensembl chr 9:123,507,504...123,613,395
G
H
CCR9
C-C motif chemokine receptor 9
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:45,886,064...45,903,174
Ensembl chr 3:45,884,425...45,903,174
G
N
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 chrNW_004624730:74,671,736...74,674,030
G
G
CCRL2
C-C motif chemokine receptor like 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:7,835,224...7,847,762
Ensembl chr22:7,846,319...7,847,353
G
P
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 chr13:29,402,488...29,410,508
Ensembl chr13:29,402,538...29,404,607
G
S
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 chrNW_004936596:319,841...320,911
G
D
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 chr20:42,270,431...42,272,498
Ensembl chr20:42,270,477...42,271,526
G
B
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 3:46,296,556...46,311,246
Ensembl chr 3:47,414,124...47,415,562
G
C
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 chrNW_004955420:25,613,632...25,616,770
G
R
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 8:119,912,671...119,915,313
Ensembl chr 8:111,034,279...111,036,664
G
M
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 9:110,883,902...110,886,586
Ensembl chr 9:110,883,554...110,886,587
G
H
CCRL2
C-C motif chemokine receptor like 2
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:46,407,259...46,409,523
Ensembl chr 3:46,407,166...46,412,997
G
N
Cdc25a
cell division cycle 25A
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004624730:73,443,895...73,463,979
Ensembl chrNW_004624730:73,443,731...73,464,486
G
G
CDC25A
cell division cycle 25A
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:9,534,114...9,564,927
Ensembl chr22:9,534,053...9,564,741
G
P
CDC25A
cell division cycle 25A
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
G
S
Cdc25a
cell division cycle 25A
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004936596:1,657,411...1,680,109
Ensembl chrNW_004936596:1,659,159...1,678,788
G
D
CDC25A
cell division cycle 25A
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr20:40,823,683...40,849,113
Ensembl chr20:40,823,459...40,847,608
G
B
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 3:48,068,601...48,099,806
Ensembl chr 3:49,154,307...49,186,115
G
C
Cdc25a
cell division cycle 25A
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004955420:24,345,002...24,361,802
Ensembl chrNW_004955420:24,344,388...24,362,596
G
R
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 8:118,742,824...118,761,190
Ensembl chr 8:109,864,478...109,882,701
G
M
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 9:109,704,545...109,722,963
Ensembl chr 9:109,704,647...109,722,963
G
H
CDC25A
cell division cycle 25A
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,157,146...48,188,417
Ensembl chr 3:48,157,146...48,188,417
G
N
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 chrNW_004624730:2,650,096...2,675,930
Ensembl chrNW_004624730:2,651,756...2,675,923
G
G
CELSR3
cadherin EGF LAG seven-pass G-type receptor 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:10,046,361...10,073,689
Ensembl chr22:10,045,900...10,072,395
G
P
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 chr13:31,331,563...31,357,374
Ensembl chr13:31,331,574...31,357,469
G
S
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 chrNW_004936529:437,476...464,012
Ensembl chrNW_004936529:437,418...464,017
G
D
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 chr20:40,457,430...40,495,128
Ensembl chr20:40,457,657...40,483,881
G
B
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 3:48,557,976...48,586,051
Ensembl chr 3:49,639,942...49,667,335
G
C
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 chrNW_004955532:724,306...749,192
Ensembl chrNW_004955532:725,243...749,173
G
R
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 8:118,409,136...118,438,593
Ensembl chr 8:109,530,641...109,558,354
G
M
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 9:108,703,244...108,730,168
Ensembl chr 9:108,703,519...108,730,168
G
H
CELSR3
cadherin EGF LAG seven-pass G-type receptor 3
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,636,463...48,662,886
Ensembl chr 3:48,636,463...48,662,886
G
N
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 chrNW_004624730:2,569,510...2,599,959
G
G
COL7A1
collagen type VII alpha 1 chain
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:9,964,652...9,996,785
Ensembl chr22:9,964,651...9,996,626
G
P
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 chr13:31,262,750...31,295,112
G
S
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 chrNW_004936529:348,938...381,701
G
D
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 chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935
G
B
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 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919
G
C
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 chrNW_004955532:650,913...681,186
G
R
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 8:118,483,364...118,515,736
Ensembl chr 8:109,604,861...109,637,252
G
M
Col7a1
collagen, type VII, alpha 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 9:108,782,654...108,813,943
Ensembl chr 9:108,782,654...108,813,943
G
H
COL7A1
collagen type VII alpha 1 chain
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
G
N
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 chrNW_004624730:74,547,226...74,550,526
G
G
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 chr22:7,993,724...8,000,935
Ensembl chr22:7,997,383...8,000,629
G
P
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 chr13:29,537,874...29,544,686
Ensembl chr13:29,540,314...29,543,893
G
S
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 chrNW_004936596:451,483...453,892
G
D
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 chr20:42,137,939...42,140,590
G
B
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 3:46,473,282...46,478,454
Ensembl chr 3:47,577,949...47,583,126
G
C
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 chrNW_004955420:25,476,975...25,479,969
Ensembl chrNW_004955420:25,477,122...25,479,969
G
R
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 8:119,803,182...119,808,714
Ensembl chr 8:110,925,024...110,930,308
G
M
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 9:110,768,676...110,775,226
Ensembl chr 9:110,768,671...110,775,226
G
H
CRIPTO
cripto, EGF-CFC family member
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457
G
N
Cspg5
chondroitin sulfate proteoglycan 5
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004624730:73,860,578...73,871,515
Ensembl chrNW_004624730:73,861,847...73,873,521
G
G
CSPG5
chondroitin sulfate proteoglycan 5
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:8,963,493...8,982,308
Ensembl chr22:8,963,676...8,980,225
G
P
CSPG5
chondroitin sulfate proteoglycan 5
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr13:30,387,225...30,404,181
Ensembl chr13:30,387,224...30,411,850
G
S
Cspg5
chondroitin sulfate proteoglycan 5
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004936596:1,235,550...1,251,100
Ensembl chrNW_004936596:1,235,545...1,251,166
G
D
CSPG5
chondroitin sulfate proteoglycan 5
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr20:41,344,098...41,356,810
Ensembl chr20:41,344,093...41,356,800
G
B
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 3:47,464,341...47,482,910
Ensembl chr 3:48,564,199...48,580,048
G
C
Cspg5
chondroitin sulfate proteoglycan 5
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004955420:24,735,155...24,746,580
Ensembl chrNW_004955420:24,734,561...24,747,414
G
R
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
G
M
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 9:110,072,851...110,091,644
Ensembl chr 9:110,072,851...110,091,644
G
H
CSPG5
chondroitin sulfate proteoglycan 5
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:47,562,238...47,580,240
Ensembl chr 3:47,562,238...47,580,792
G
N
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 chrNW_004624730:74,960,324...74,961,337
G
G
CXCR6
C-X-C motif chemokine receptor 6
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:7,413,871...7,419,229
Ensembl chr22:7,414,334...7,419,213
G
P
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 chr13:29,095,900...29,100,666
Ensembl chr13:29,095,900...29,100,667
G
S
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 chrNW_004936596:31,641...44,561
Ensembl chrNW_004936596:37,067...38,092
G
D
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 chr20:42,565,251...42,569,647
Ensembl chr20:42,565,251...42,566,276
G
B
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 3:45,848,722...45,856,145
Ensembl chr 3:46,960,610...46,961,638
G
C
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 chrNW_004955420:26,056,464...26,061,992
Ensembl chrNW_004955420:26,058,170...26,059,216
G
R
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 8:132,311,834...132,317,001
Ensembl chr 8:123,416,325...123,439,526
G
M
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 9:123,635,542...123,640,819
Ensembl chr 9:123,635,540...123,640,825
G
H
CXCR6
C-X-C motif chemokine receptor 6
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:45,940,915...45,948,351
Ensembl chr 3:45,940,933...45,948,351
G
N
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 chrNW_004624730:3,063,241...3,066,253
Ensembl chrNW_004624730:3,063,245...3,066,453
G
G
DALRD3
DALR anticodon binding domain containing 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:10,415,833...10,419,492
Ensembl chr22:10,411,353...10,419,770
G
P
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 chr13:31,650,880...31,656,320
Ensembl chr13:31,650,967...31,656,306
G
S
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 chrNW_004936529:740,861...744,461
Ensembl chrNW_004936529:740,975...745,427
G
D
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 chr20:40,145,239...40,148,731
Ensembl chr20:40,145,700...40,148,729 Ensembl chr20:40,145,700...40,148,729
G
B
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 3:48,940,126...48,945,717
Ensembl chr 3:50,021,669...50,024,522
G
C
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 chrNW_004955532:1,038,861...1,042,362
Ensembl chrNW_004955532:1,038,970...1,041,984
G
R
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
G
M
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 9:108,444,710...108,449,972
Ensembl chr 9:108,447,085...108,449,973
G
H
DALRD3
DALR anticodon binding domain containing 3
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:49,015,488...49,021,505
Ensembl chr 3:49,015,488...49,022,293
G
N
Dhx30
DExH-box helicase 30
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004624730:73,656,378...73,685,863
Ensembl chrNW_004624730:73,656,361...73,681,999
G
G
DHX30
DExH-box helicase 30
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:9,191,527...9,239,445
Ensembl chr22:9,206,175...9,239,372
G
P
DHX30
DExH-box helicase 30
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr13:30,602,008...30,632,506
Ensembl chr13:30,617,376...30,632,497
G
S
Dhx30
DExH-box helicase 30
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004936596:1,419,165...1,454,797
Ensembl chrNW_004936596:1,421,094...1,455,356
G
D
DHX30
DExH-box helicase 30
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr20:41,102,064...41,131,464
Ensembl chr20:41,102,080...41,129,429
G
B
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 3:47,715,275...47,762,872
Ensembl chr 3:48,819,125...48,857,964
G
C
Dhx30
DExH-box helicase 30
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004955420:24,537,608...24,549,771
Ensembl chrNW_004955420:24,537,608...24,561,293
G
R
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 8:118,943,186...118,975,319
Ensembl chr 8:110,064,752...110,097,381
G
M
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 9:109,913,387...109,946,728
Ensembl chr 9:109,913,388...109,946,898
G
H
DHX30
DExH-box helicase 30
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:47,803,138...47,850,193
Ensembl chr 3:47,802,909...47,850,195
G
N
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 chrNW_004624730:73,910,843...73,923,273
Ensembl chrNW_004624730:73,910,405...73,926,844
G
G
ELP6
elongator acetyltransferase complex subunit 6
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:8,899,078...8,929,072
G
P
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 chr13:30,329,815...30,341,952
Ensembl chr13:30,325,249...30,341,295
G
S
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 chrNW_004936596:1,187,402...1,205,277
Ensembl chrNW_004936596:1,184,314...1,205,377
G
D
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 chr20:41,400,267...41,410,138
Ensembl chr20:41,400,336...41,409,632
G
B
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 3:47,392,777...47,415,830
Ensembl chr 3:48,496,874...48,515,090
G
C
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 chrNW_004955420:24,795,416...24,807,790
Ensembl chrNW_004955420:24,795,496...24,811,134
G
R
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 8:119,158,380...119,173,483
Ensembl chr 8:110,279,979...110,295,067
G
M
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 9:110,133,321...110,151,170
Ensembl chr 9:110,134,241...110,151,170
G
H
ELP6
elongator acetyltransferase complex subunit 6
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:47,495,640...47,513,712
Ensembl chr 3:47,495,640...47,513,712
G
G
FBXW12
F-box and WD repeat domain containing 12
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:9,771,420...9,795,768
Ensembl chr22:9,772,202...9,794,123
G
S
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 chrNW_004936529:156,881...175,568
G
D
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 chr20:40,696,434...40,711,177
Ensembl chr20:40,696,502...40,710,720
G
B
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 3:48,290,904...48,318,318
G
R
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
G
H
FBXW12
F-box and WD repeat domain containing 12
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,372,219...48,394,725
Ensembl chr 3:48,372,219...48,401,259
G
M
Fbxw13
F-box and WD-40 domain protein 13
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 9:109,008,295...109,025,043
Ensembl chr 9:109,008,295...109,025,043
G
N
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 chrNW_004624730:74,923,072...74,982,882
Ensembl chrNW_004624730:74,923,027...74,982,990
G
G
FYCO1
FYVE and coiled-coil domain autophagy adaptor 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:7,388,796...7,466,463
Ensembl chr22:7,388,704...7,466,430
G
P
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 chr13:29,068,107...29,146,792
Ensembl chr13:29,066,986...29,146,755
G
S
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 chrNW_004936596:3,938...81,226
Ensembl chrNW_004936596:3,720...81,257
G
D
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 chr20:42,520,241...42,593,886
Ensembl chr20:42,525,435...42,590,243
G
B
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 3:45,825,670...45,903,595
Ensembl chr 3:46,932,148...47,009,676
G
C
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 chrNW_004955420:26,019,621...26,076,846
Ensembl chrNW_004955420:26,019,514...26,074,492
G
R
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 8:132,289,538...132,356,810
Ensembl chr 8:123,412,112...123,479,021
G
M
Fyco1
FYVE and coiled-coil domain containing 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 9:123,618,565...123,681,110
Ensembl chr 9:123,618,565...123,680,964
G
H
FYCO1
FYVE and coiled-coil domain autophagy adaptor 1
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:45,917,903...45,995,824
Ensembl chr 3:45,917,903...45,995,824
G
N
Impdh2
inosine monophosphate dehydrogenase 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004624730:3,071,132...3,075,870
Ensembl chrNW_004624730:3,071,141...3,075,882
G
G
IMPDH2
inosine monophosphate dehydrogenase 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:10,424,646...10,429,917
Ensembl chr22:10,421,996...10,429,662
G
P
IMPDH2
inosine monophosphate dehydrogenase 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr13:31,658,642...31,663,660
Ensembl chr13:31,658,650...31,663,552
G
P
IMPDH2
inosine monophosphate dehydrogenase 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr13:31,663,812...31,714,523
Ensembl chr13:31,658,642...31,714,455
G
S
Impdh2
inosine monophosphate dehydrogenase 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004936529:748,777...753,582
Ensembl chrNW_004936529:745,511...753,581
G
D
IMPDH2
inosine monophosphate dehydrogenase 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr20:40,136,106...40,140,983
Ensembl chr20:40,136,154...40,140,972
G
B
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 3:48,948,965...48,954,276
Ensembl chr 3:50,030,303...50,035,676
G
C
Impdh2
inosine monophosphate dehydrogenase 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004955532:1,047,138...1,051,980
Ensembl chrNW_004955532:1,045,833...1,051,978
G
R
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 8:118,135,204...118,139,892
Ensembl chr 8:109,256,728...109,261,359
G
M
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 9:108,437,635...108,442,776
Ensembl chr 9:108,437,485...108,442,783
G
H
IMPDH2
inosine monophosphate dehydrogenase 2
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:49,024,325...49,029,398
Ensembl chr 3:49,024,325...49,029,447
G
N
Ip6k2
inositol hexakisphosphate kinase 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004624730:2,697,098...2,734,198
Ensembl chrNW_004624730:2,697,098...2,734,636
G
G
IP6K2
inositol hexakisphosphate kinase 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:10,097,730...10,121,325
Ensembl chr22:10,097,746...10,121,840
G
P
IP6K2
inositol hexakisphosphate kinase 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr13:31,379,516...31,406,989
Ensembl chr13:31,379,521...31,406,911
G
S
Ip6k2
inositol hexakisphosphate kinase 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004936529:487,277...515,614
Ensembl chrNW_004936529:486,879...515,674
G
D
IP6K2
inositol hexakisphosphate kinase 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr20:40,403,260...40,437,863
Ensembl chr20:40,427,083...40,437,804
G
B
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 3:48,608,902...48,638,185
Ensembl chr 3:49,690,486...49,719,798
G
C
Ip6k2
inositol hexakisphosphate kinase 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004955532:766,577...794,461
Ensembl chrNW_004955532:766,577...794,409
G
R
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 8:118,362,154...118,388,668
Ensembl chr 8:109,484,310...109,510,166
G
M
Ip6k2
inositol hexaphosphate kinase 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 9:108,660,928...108,683,532
Ensembl chr 9:108,660,995...108,683,536
G
H
IP6K2
inositol hexakisphosphate kinase 2
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,688,003...48,717,221
Ensembl chr 3:48,688,003...48,740,353
G
N
Kif9
kinesin family member 9
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004624730:74,075,530...74,118,164
Ensembl chrNW_004624730:74,075,752...74,118,164
G
G
KIF9
kinesin family member 9
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:8,626,636...8,685,473
Ensembl chr22:8,632,849...8,680,002
G
P
KIF9
kinesin family member 9
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr13:30,014,468...30,062,871
Ensembl chr13:30,014,991...30,063,073
G
S
Kif9
kinesin family member 9
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004936596:952,028...1,010,889
G
D
KIF9
kinesin family member 9
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr20:41,587,202...41,637,768
Ensembl chr20:41,588,443...41,637,781
G
B
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 3:47,130,047...47,183,636
Ensembl chr 3:48,229,703...48,283,002
G
C
Kif9
kinesin family member 9
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004955420:24,968,757...25,011,642
Ensembl chrNW_004955420:24,968,759...25,011,642
G
R
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 8:119,338,014...119,406,632
Ensembl chr 8:110,459,383...110,505,252
G
M
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 9:110,306,062...110,354,242
Ensembl chr 9:110,306,026...110,354,247
G
H
KIF9
kinesin family member 9
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:47,227,998...47,282,799
Ensembl chr 3:47,227,998...47,283,451
G
N
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 chrNW_004624730:74,023,726...74,075,478
Ensembl chrNW_004624730:74,022,684...74,075,393
G
G
KLHL18
kelch like family member 18
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:8,685,466...8,745,089
Ensembl chr22:8,684,945...8,745,264
G
P
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 chr13:30,063,084...30,141,513
Ensembl chr13:30,063,188...30,141,513
G
S
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 chrNW_004936596:1,010,963...1,063,539
Ensembl chrNW_004936596:1,010,880...1,063,518
G
D
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 chr20:41,532,096...41,587,104
Ensembl chr20:41,533,012...41,587,003
G
B
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 3:47,183,587...47,247,574
Ensembl chr 3:48,282,935...48,346,165
G
C
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 chrNW_004955420:24,917,001...24,968,712
Ensembl chrNW_004955420:24,916,597...24,968,706
G
R
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 8:119,279,081...119,337,850
Ensembl chr 8:110,400,681...110,459,323
G
M
Klhl18
kelch-like 18
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 9:110,254,994...110,305,768
Ensembl chr 9:110,254,994...110,305,762
G
H
KLHL18
kelch like family member 18
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:47,282,944...47,346,816
Ensembl chr 3:47,282,917...47,346,816
G
N
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 chrNW_004624730:75,228,638...75,335,045
Ensembl chrNW_004624730:75,228,316...75,335,052
G
G
LARS2
leucyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:6,861,105...7,021,325
Ensembl chr22:6,861,006...7,020,009
G
P
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 chr13:28,524,778...28,692,327
Ensembl chr13:28,524,796...28,692,327
G
S
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 chrNW_004936695:353,965...492,014
Ensembl chrNW_004936695:350,975...492,011
G
D
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 chr20:42,891,823...43,080,987
Ensembl chr20:42,892,801...43,081,197
G
B
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 3:45,296,129...45,455,836
Ensembl chr 3:46,405,636...46,564,994
G
C
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 chrNW_004955420:26,342,129...26,446,959
Ensembl chrNW_004955420:26,343,649...26,441,736
G
R
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 8:131,887,728...131,983,866
Ensembl chr 8:123,010,293...123,106,395
G
M
Lars2
leucyl-tRNA synthetase, mitochondrial
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 9:123,196,001...123,291,731
Ensembl chr 9:123,195,992...123,291,731
G
H
LARS2
leucyl-tRNA synthetase 2, mitochondrial
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726
G
N
Limd1
LIM domain containing 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004624730:75,176,978...75,218,606
Ensembl chrNW_004624730:75,176,717...75,219,314
G
G
LIMD1
LIM domain containing 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:7,065,666...7,151,607
Ensembl chr22:7,065,698...7,147,420
G
P
LIMD1
LIM domain containing 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr13:28,730,192...28,811,584
Ensembl chr13:28,730,278...28,811,615
G
S
Limd1
LIM domain containing 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004936695:260,586...314,521
Ensembl chrNW_004936695:259,209...314,535
G
D
LIMD1
LIM domain containing 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr20:42,797,316...42,867,292
Ensembl chr20:42,799,142...42,867,428
G
B
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 3:45,500,413...45,587,850
Ensembl chr 3:46,610,315...46,695,406
G
C
Limd1
LIM domain containing 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004955420:26,290,792...26,328,637
Ensembl chrNW_004955420:26,291,529...26,328,637
G
R
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 8:131,998,262...132,045,924
Ensembl chr 8:123,122,460...123,167,714
G
M
Limd1
LIM domains containing 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 9:123,306,790...123,350,617
Ensembl chr 9:123,307,771...123,350,617
G
H
LIMD1
LIM domain containing 1
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:45,594,751...45,686,341
Ensembl chr 3:45,555,394...45,686,341
G
P
LOC100521518
uncharacterized LOC100521518
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr13:31,153,614...31,156,339
Ensembl chr13:31,153,629...31,156,339
G
P
LOC100739218
double-headed protease inhibitor, submandibular gland-like
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 2:149,400,864...149,406,484
G
B
LOC100977575
cytochrome b-c1 complex subunit 1, mitochondrial
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,520,870...48,531,947
Ensembl chr 3:49,602,770...49,613,717
G
N
LOC101719627
cytochrome b-c1 complex subunit 1, mitochondrial
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004624730:2,603,301...2,613,105
Ensembl chrNW_004624730:2,603,089...2,613,828
G
N
LOC101724812
C-C chemokine receptor type 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004624730:74,822,848...74,828,614
Ensembl chrNW_004624730:74,826,659...74,827,726
G
S
LOC101956274
cytochrome b-c1 complex subunit 1, mitochondrial
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004936529:385,942...396,196
Ensembl chrNW_004936529:385,851...396,230
G
S
LOC101964209
C-C chemokine receptor type 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004936596:177,774...183,186
Ensembl chrNW_004936596:177,812...183,186
G
C
LOC102005965
cytochrome b-c1 complex subunit 1, mitochondrial
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004955532:685,315...691,286
Ensembl chrNW_004955532:685,395...696,554
G
G
LOC103227551
serine protease 50
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:8,135,011...8,142,455
Ensembl chr22:8,135,046...8,140,809
G
G
LOC103227611
ARIH2 opposite strand lncRNA
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:10,318,252...10,319,365
G
G
LOC103227881
translation machinery-associated protein 7
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:30,955,816...30,956,320
G
B
LOC103786080
ARIH2 opposite strand lncRNA
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,843,126...48,845,424
Ensembl chr 3:49,925,886...49,926,758
G
S
LOC110599066
translation machinery-associated protein 7
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004936624:659,521...659,879
G
H
LOC129936736
ATAC-STARR-seq lymphoblastoid active region 19853
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:9536098 PMID:17576681 PMID:24656866 PMID:25471517 PMID:25741868 PMID:28492532 More...
NCBI chr 3:49,104,529...49,104,718
G
N
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 chrNW_004624730:74,564,889...74,594,276
Ensembl chrNW_004624730:74,564,923...74,592,337
G
G
LRRC2
leucine rich repeat containing 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:7,937,167...7,987,249
Ensembl chr22:7,934,217...7,986,666
G
P
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 chr13:29,477,790...29,524,177
Ensembl chr13:29,478,114...29,536,539
G
S
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 chrNW_004936596:420,678...440,937
Ensembl chrNW_004936596:420,567...441,090
G
D
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 chr20:42,156,097...42,193,523
Ensembl chr20:42,156,154...42,191,681
G
B
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 3:46,413,776...46,463,131
Ensembl chr 3:47,518,600...47,567,020
G
C
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 chrNW_004955420:25,492,277...25,528,530
Ensembl chrNW_004955420:25,491,010...25,528,530
G
R
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
M
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 9:110,780,613...110,813,134
Ensembl chr 9:110,780,613...110,813,134
G
H
LRRC2
leucine rich repeat containing 2
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:46,515,385...46,566,302
Ensembl chr 3:46,515,385...46,606,948
G
N
Ltf
lactotransferrin
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004624730:74,636,554...74,656,817
Ensembl chrNW_004624730:74,636,522...74,656,886
G
G
LTF
lactotransferrin
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:7,867,332...7,896,403
Ensembl chr22:7,867,286...7,894,521
G
P
LTF
lactotransferrin
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr13:29,413,886...29,445,751
Ensembl chr13:29,413,886...29,445,739
G
S
Ltf
lactotransferrin
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004936596:344,287...373,788
Ensembl chrNW_004936596:344,274...373,952
G
D
LTF
lactotransferrin
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr20:42,231,994...42,263,202
Ensembl chr20:42,231,994...42,263,202
G
B
LTF
lactotransferrin
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:46,337,738...46,367,476
Ensembl chr 3:47,442,440...47,471,532
G
C
Ltf
lactotransferrin
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004955420:25,580,449...25,604,277
Ensembl chrNW_004955420:25,580,359...25,604,331
G
R
Ltf
lactotransferrin
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:119,878,344...119,901,189
Ensembl chr 8:110,999,948...111,022,795
G
M
Ltf
lactotransferrin
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 9:110,848,360...110,871,834
Ensembl chr 9:110,848,339...110,871,835
G
H
LTF
lactotransferrin
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:46,435,645...46,485,234
Ensembl chr 3:46,435,645...46,485,234
G
N
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 chrNW_004624730:75,041,943...75,069,972
Ensembl chrNW_004624730:75,041,790...75,071,728
G
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 chr22:7,292,390...7,310,355
Ensembl chr22:7,294,733...7,307,687
G
P
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 chr13:28,975,202...29,005,245
Ensembl chr13:28,977,503...29,005,445
G
S
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 chrNW_004936695:106,216...118,408
Ensembl chrNW_004936695:106,175...121,606
G
D
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 chr20:42,651,762...42,666,426
Ensembl chr20:42,651,802...42,666,417
G
B
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 3:45,733,361...45,823,810
Ensembl chr 3:46,840,037...46,929,864
G
C
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 chrNW_004955420:26,130,432...26,145,516
Ensembl chrNW_004955420:26,130,434...26,146,955
G
R
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 8:132,222,339...132,237,757
Ensembl chr 8:123,344,925...123,360,192
G
M
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 9:123,523,469...123,546,690
Ensembl chr 9:123,523,481...123,546,762
G
H
LZTFL1
leucine zipper transcription factor like 1
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042
G
N
Map4
microtubule associated protein 4
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004624730:73,490,974...73,656,097
G
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 chr22:9,239,983...9,461,438
Ensembl chr22:9,242,309...9,394,713
G
P
MAP4
microtubule associated protein 4
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr13:30,633,049...30,805,183
Ensembl chr13:30,633,054...30,804,761
G
S
Map4
microtubule associated protein 4
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004936596:1,455,705...1,546,007
G
D
MAP4
microtubule associated protein 4
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr20:40,896,920...41,101,626
Ensembl chr20:40,896,772...41,100,001
G
B
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 3:47,763,379...47,995,457
Ensembl chr 3:48,858,544...49,020,950
G
C
Map4
microtubule associated protein 4
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004955420:24,437,492...24,537,410
G
R
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 8:118,800,393...118,942,805
Ensembl chr 8:109,925,575...110,064,362
G
M
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 9:109,758,909...109,913,018
Ensembl chr 9:109,760,528...109,913,023
G
H
MAP4
microtubule associated protein 4
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:47,850,695...48,088,848
Ensembl chr 3:47,850,690...48,089,272
G
P
MIR191
microRNA mir-191
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr13:31,655,484...31,655,563
Ensembl chr13:31,655,484...31,655,563
G
D
MIR191
microRNA mir-191
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr20:40,144,135...40,144,198
Ensembl chr20:40,144,121...40,144,210
G
R
Mir191
microRNA 191
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:118,142,627...118,142,717
G
M
Mir191
microRNA 191
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 9:108,445,518...108,445,591
Ensembl chr 9:108,445,518...108,445,591
G
H
MIR191
microRNA 191
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:49,020,618...49,020,709
Ensembl chr 3:49,020,618...49,020,709
G
H
MIR6890
microRNA 6890
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:49,099,854...49,099,914
Ensembl chr 3:49,099,854...49,099,914
G
N
Myl3
myosin light chain 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004624730:74,405,054...74,408,567
Ensembl chrNW_004624730:74,404,915...74,408,752
G
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 chr22:8,263,536...8,272,229
Ensembl chr22:8,261,206...8,269,185
G
P
MYL3
myosin light chain 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr13:29,730,271...29,735,616
Ensembl chr13:29,707,371...29,735,586
G
S
Myl3
myosin light chain 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004936596:649,887...655,110
Ensembl chrNW_004936596:649,875...655,110
G
D
MYL3
myosin light chain 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr20:41,941,617...41,947,085
Ensembl chr20:41,933,105...42,073,779
G
B
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 3:46,758,058...46,782,425
Ensembl chr 3:47,859,467...47,865,084
G
C
Myl3
myosin light chain 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004955420:25,308,513...25,311,959
Ensembl chrNW_004955420:25,305,759...25,312,271
G
R
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 8:119,617,077...119,623,215
Ensembl chr 8:110,738,661...110,744,816
G
M
Myl3
myosin, light polypeptide 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 9:110,592,746...110,598,870
Ensembl chr 9:110,570,929...110,598,866
G
H
MYL3
myosin light chain 3
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:46,857,872...46,882,182
Ensembl chr 3:46,835,110...46,882,178
G
N
Nbeal2
neurobeachin like 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004624730:74,283,938...74,310,340
Ensembl chrNW_004624730:74,284,240...74,310,201
G
G
NBEAL2
neurobeachin like 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:8,385,109...8,414,553
Ensembl chr22:8,385,229...8,414,655
G
P
NBEAL2
neurobeachin like 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr13:29,847,406...29,881,904
Ensembl chr13:29,855,182...29,878,286
G
S
Nbeal2
neurobeachin like 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004936596:758,495...789,252
Ensembl chrNW_004936596:758,495...789,168
G
D
NBEAL2
neurobeachin like 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr20:41,806,903...41,836,286
Ensembl chr20:41,803,702...41,827,587
G
B
NBEAL2
neurobeachin like 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:46,879,867...46,909,901
Ensembl chr 3:47,987,142...48,010,766
G
C
Nbeal2
neurobeachin like 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004955420:25,184,574...25,204,870
Ensembl chrNW_004955420:25,184,198...25,205,442
G
R
Nbeal2
neurobeachin-like 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:119,481,608...119,511,997
Ensembl chr 8:110,599,389...110,633,707
G
M
Nbeal2
neurobeachin-like 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 9:110,453,857...110,483,229
Ensembl chr 9:110,453,857...110,483,229
G
H
NBEAL2
neurobeachin like 2
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:46,979,666...47,009,701
Ensembl chr 3:46,979,666...47,009,704
G
N
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 chrNW_004624730:2,685,256...2,695,387
Ensembl chrNW_004624730:2,684,762...2,695,705
G
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 chr22:10,083,042...10,095,654
Ensembl chr22:10,081,218...10,095,566
G
P
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 chr13:31,366,574...31,377,684
Ensembl chr13:31,363,765...31,377,672
G
S
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 chrNW_004936529:474,978...485,333
Ensembl chrNW_004936529:471,913...485,389
G
D
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 chr20:40,443,245...40,449,859
Ensembl chr20:40,442,386...40,449,542
G
B
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 3:48,586,112...48,606,811
Ensembl chr 3:49,676,282...49,688,548
G
C
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 chrNW_004955532:755,997...766,202
Ensembl chrNW_004955532:755,997...764,855
G
R
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
M
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 9:108,685,515...108,696,044
Ensembl chr 9:108,685,567...108,696,043
G
H
NCKIPSD
NCK interacting protein with SH3 domain
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,673,844...48,685,915
Ensembl chr 3:48,673,844...48,686,364
G
N
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 chrNW_004624730:3,069,083...3,070,675
Ensembl chrNW_004624730:3,069,115...3,070,675
G
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 chr22:10,421,359...10,423,626
Ensembl chr22:10,421,996...10,423,510
G
P
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 chr13:31,656,941...31,658,087
Ensembl chr13:31,656,948...31,659,220
G
S
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 chrNW_004936529:746,620...748,145
Ensembl chrNW_004936529:747,021...748,695
G
D
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 chr20:40,141,550...40,143,207
Ensembl chr20:40,141,552...40,172,553
G
B
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 3:48,945,667...48,947,933
Ensembl chr 3:50,026,989...50,029,260
G
C
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 chrNW_004955532:1,045,854...1,046,738
Ensembl chrNW_004955532:1,045,852...1,046,594
G
R
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
M
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 9:108,442,786...108,444,635
Ensembl chr 9:108,442,736...108,444,633
G
H
NDUFAF3
NADH:ubiquinone oxidoreductase complex assembly factor 3
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:49,020,452...49,023,495
Ensembl chr 3:49,020,459...49,023,495
G
N
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 chrNW_004624730:73,414,124...73,421,161
Ensembl chrNW_004624730:73,414,798...73,419,261
G
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 chr22:9,685,583...9,692,993
Ensembl chr22:9,681,953...9,692,172
G
P
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 chr13:31,048,367...31,053,285
Ensembl chr13:31,046,948...31,053,130
G
S
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 chrNW_004936529:88,929...96,207
Ensembl chrNW_004936529:88,949...96,236
G
D
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 chr20:40,769,394...40,778,802
Ensembl chr20:40,769,501...40,776,496
G
B
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 3:48,206,365...48,217,618
Ensembl chr 3:49,290,069...49,299,831
G
C
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 chrNW_004955420:24,301,079...24,306,370
Ensembl chrNW_004955420:24,301,081...24,306,493
G
R
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 8:118,708,092...118,717,756
Ensembl chr 8:109,832,589...109,839,301
G
M
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 9:109,661,830...109,672,042
Ensembl chr 9:109,661,817...109,672,184
G
H
NME6
NME/NM23 nucleoside diphosphate kinase 6
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,288,402...48,301,367
Ensembl chr 3:48,290,722...48,301,685
G
P
NPG4
protegrin 4
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr13:30,932,411...30,934,626
Ensembl chr13:30,932,232...30,987,873
G
N
P4htm
prolyl 4-hydroxylase, transmembrane
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004624730:3,042,699...3,056,632
Ensembl chrNW_004624730:3,043,222...3,056,645
G
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 chr22:10,387,828...10,407,476
Ensembl chr22:10,388,932...10,407,507
G
P
P4HTM
prolyl 4-hydroxylase, transmembrane
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr13:31,627,230...31,642,251
Ensembl chr13:31,627,225...31,642,399
G
S
P4htm
prolyl 4-hydroxylase, transmembrane
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004936529:716,407...732,010
Ensembl chrNW_004936529:716,433...731,795
G
D
P4HTM
prolyl 4-hydroxylase, transmembrane
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr20:40,157,952...40,172,624
Ensembl chr20:40,157,952...40,172,599
G
B
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 3:48,914,547...48,931,723
Ensembl chr 3:49,993,219...50,013,272
G
C
P4htm
prolyl 4-hydroxylase, transmembrane
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004955532:1,015,259...1,029,749
Ensembl chrNW_004955532:1,015,259...1,029,749
G
R
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 8:118,153,158...118,172,199
Ensembl chr 8:109,274,626...109,292,473
G
M
P4htm
prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 9:108,456,025...108,475,482
Ensembl chr 9:108,456,061...108,474,866
G
H
P4HTM
prolyl 4-hydroxylase, transmembrane
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,989,908...49,007,153
Ensembl chr 3:48,989,889...49,007,153
G
N
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 chrNW_004624730:2,519,661...2,566,664
Ensembl chrNW_004624730:2,519,678...2,563,059
G
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 chr22:9,920,252...9,962,243
Ensembl chr22:9,919,764...9,957,543
G
P
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 chr13:31,212,553...31,259,785
Ensembl chr13:31,212,552...31,259,749
G
S
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 chrNW_004936529:304,090...346,281
Ensembl chrNW_004936529:303,843...342,935
G
D
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 chr20:40,556,548...40,587,036
Ensembl chr20:40,556,790...40,585,652
G
B
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 3:48,439,542...48,479,501
Ensembl chr 3:49,521,550...49,560,711
G
C
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 chrNW_004955532:606,597...644,238
Ensembl chrNW_004955532:606,643...644,027
G
R
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 8:118,522,371...118,565,478
Ensembl chr 8:109,643,937...109,685,634
G
M
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 9:108,817,336...108,861,302
Ensembl chr 9:108,820,846...108,861,296
G
H
PFKFB4
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,517,684...48,563,136
Ensembl chr 3:48,517,684...48,562,015
G
N
Plxnb1
plexin B1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004624730:2,368,329...2,396,284
Ensembl chrNW_004624730:2,371,147...2,391,308
G
G
PLXNB1
plexin B1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:9,805,358...9,833,102
Ensembl chr22:9,806,907...9,827,640
G
P
PLXNB1
plexin B1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr13:31,113,910...31,140,133
Ensembl chr13:31,113,914...31,140,220
G
S
Plxnb1
plexin B1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004936529:197,834...226,064
Ensembl chrNW_004936529:200,210...221,227
G
D
PLXNB1
plexin B1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr20:40,658,938...40,685,219
Ensembl chr20:40,661,772...40,684,265
G
B
PLXNB1
plexin B1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,325,892...48,352,128
Ensembl chr 3:49,408,666...49,434,913
G
C
Plxnb1
plexin B1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004955532:471,652...499,525
Ensembl chrNW_004955532:474,354...494,527
G
R
Plxnb1
plexin B1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:118,621,961...118,647,491
Ensembl chr 8:109,744,697...109,769,027
G
M
Plxnb1
plexin B1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 9:108,922,915...108,948,983
Ensembl chr 9:108,924,457...108,948,985
G
H
PLXNB1
plexin B1
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,403,854...48,430,310
Ensembl chr 3:48,403,854...48,430,086
G
N
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 chrNW_004624730:2,743,921...2,807,270
G
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 chr22:10,153,951...10,251,438
Ensembl chr22:10,150,378...10,251,397
G
P
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 chr13:31,427,786...31,517,005
Ensembl chr13:31,426,213...31,517,122
G
S
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 chrNW_004936529:528,138...601,078
Ensembl chrNW_004936529:528,114...601,122
G
D
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 chr20:40,277,655...40,388,156
Ensembl chr20:40,277,906...40,384,633
G
B
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 3:48,665,421...48,774,111
Ensembl chr 3:49,747,611...49,854,382
G
C
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 chrNW_004955532:827,112...896,487
Ensembl chrNW_004955532:827,418...852,845
G
R
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 8:118,271,608...118,337,332
Ensembl chr 8:109,395,833...109,455,628
G
M
Prkar2a
protein kinase, cAMP dependent regulatory, type II alpha
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 9:108,569,342...108,627,643
Ensembl chr 9:108,566,513...108,627,635
G
H
PRKAR2A
protein kinase cAMP-dependent type II regulatory subunit alpha
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,744,591...48,847,874
Ensembl chr 3:48,744,597...48,847,874
G
N
Prss50
serine protease 50
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004624730:74,494,152...74,497,473
G
P
PRSS50
serine protease 50
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr13:29,633,575...29,638,994
Ensembl chr13:29,632,886...29,639,045
G
S
Prss50
serine protease 50
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004936596:541,918...544,866
Ensembl chrNW_004936596:541,918...546,364
G
D
PRSS50
serine protease 50
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr20:42,046,177...42,051,517
G
B
PRSS50
serine protease 50
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:46,610,119...46,616,435
Ensembl chr 3:47,713,699...47,719,315
G
C
Prss50
serine protease 50
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004955420:25,424,082...25,427,705
G
R
Prss50
serine protease 50
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:119,719,574...119,727,269
Ensembl chr 8:110,842,671...110,848,802
G
M
Prss50
serine protease 50
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 9:110,687,032...110,693,697
Ensembl chr 9:110,687,035...110,693,697
G
H
PRSS50
serine protease 50
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:46,712,117...46,717,869
Ensembl chr 3:46,712,117...46,717,869
G
N
Pth1r
parathyroid hormone 1 receptor
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004624730:74,371,614...74,392,344
Ensembl chrNW_004624730:74,371,294...74,390,262
G
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 chr22:8,287,877...8,309,736
Ensembl chr22:8,289,398...8,311,256
G
P
PTH1R
parathyroid hormone 1 receptor
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr13:29,749,940...29,775,361
Ensembl chr13:29,753,326...29,775,348
G
S
Pth1r
parathyroid hormone 1 receptor
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004936596:674,088...693,191
Ensembl chrNW_004936596:674,088...693,213
G
D
PTH1R
parathyroid hormone 1 receptor
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr20:41,905,265...41,924,712
Ensembl chr20:41,905,273...41,925,794
G
B
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 3:46,777,945...46,804,039
Ensembl chr 3:47,894,901...47,905,431
G
C
Pth1r
parathyroid hormone 1 receptor
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004955420:25,274,269...25,291,984
Ensembl chrNW_004955420:25,273,431...25,296,471
G
R
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 8:119,572,295...119,597,405
Ensembl chr 8:110,697,485...110,719,729
G
M
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 9:110,551,132...110,576,213
Ensembl chr 9:110,551,153...110,576,213
G
H
PTH1R
parathyroid hormone 1 receptor
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799
G
N
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 chrNW_004624730:73,975,490...74,004,454
Ensembl chrNW_004624730:73,975,655...74,004,572
G
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 chr22:8,788,927...8,821,566
Ensembl chr22:8,788,961...8,821,316
G
P
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 chr13:30,190,659...30,252,980
Ensembl chr13:30,190,755...30,253,113
G
S
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 chrNW_004936596:1,094,285...1,124,483
Ensembl chrNW_004936596:1,094,205...1,124,712
G
D
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 chr20:41,485,959...41,511,250
Ensembl chr20:41,485,195...41,587,003
G
B
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 3:47,280,706...47,314,268
Ensembl chr 3:48,379,810...48,413,488
G
C
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 chrNW_004955420:24,869,737...24,897,196
Ensembl chrNW_004955420:24,869,894...24,897,102
G
R
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 8:119,239,213...119,261,675
Ensembl chr 8:110,360,804...110,383,271
G
M
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 9:110,214,152...110,237,278
Ensembl chr 9:110,214,150...110,237,281
G
H
PTPN23
protein tyrosine phosphatase non-receptor type 23
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:47,381,021...47,413,435
Ensembl chr 3:47,381,011...47,413,435
G
N
Qars1
glutaminyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 PMID:25471517 PMID:25741868 PMID:26467025 PMID:26869582 PMID:27572814 PMID:28492532 PMID:28620870 PMID:29875423 PMID:30755392 PMID:31618474 PMID:32042906 PMID:33057194 PMID:33256324 PMID:35982159 PMID:36474027 PMID:36672771 More...
NCBI chrNW_004624730:3,123,877...3,130,787
Ensembl chrNW_004624730:3,120,958...3,130,757
G
G
QARS1
glutaminyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 PMID:25471517 PMID:25741868 PMID:26467025 PMID:26869582 PMID:27572814 PMID:28492532 PMID:28620870 PMID:29875423 PMID:30755392 PMID:31618474 PMID:32042906 PMID:33057194 PMID:33256324 PMID:35982159 PMID:36474027 PMID:36672771 More...
NCBI chr22:10,497,921...10,507,673
Ensembl chr22:10,497,658...10,507,325
G
P
QARS1
glutaminyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 PMID:25471517 PMID:25741868 PMID:26467025 PMID:26869582 PMID:27572814 PMID:28492532 PMID:28620870 PMID:29875423 PMID:30755392 PMID:31618474 PMID:32042906 PMID:33057194 PMID:33256324 PMID:35982159 PMID:36474027 PMID:36672771 More...
NCBI chr13:31,715,686...31,723,200
Ensembl chr13:31,715,689...31,723,197
G
S
Qars1
glutaminyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 PMID:25471517 PMID:25741868 PMID:26467025 PMID:26869582 PMID:27572814 PMID:28492532 PMID:28620870 PMID:29875423 PMID:30755392 PMID:31618474 PMID:32042906 PMID:33057194 PMID:33256324 PMID:35982159 PMID:36474027 PMID:36672771 More...
NCBI chrNW_004936529:802,753...810,270
Ensembl chrNW_004936529:802,759...810,265
G
D
QARS1
glutaminyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 PMID:25471517 PMID:25741868 PMID:26467025 PMID:26869582 PMID:27572814 PMID:28492532 PMID:28620870 PMID:29875423 PMID:30755392 PMID:31618474 PMID:32042906 PMID:33057194 PMID:33256324 PMID:35982159 PMID:36474027 PMID:36672771 More...
NCBI chr20:40,077,856...40,085,100
Ensembl chr20:40,078,163...40,085,099
G
B
QARS1
glutaminyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 PMID:25471517 PMID:25741868 PMID:26467025 PMID:26869582 PMID:27572814 PMID:28492532 PMID:28620870 PMID:29875423 PMID:30755392 PMID:31618474 PMID:32042906 PMID:33057194 PMID:33256324 PMID:35982159 PMID:36474027 PMID:36672771 More...
NCBI chr 3:49,020,310...49,029,443
Ensembl chr 3:50,100,216...50,125,112
G
C
Qars1
glutaminyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 PMID:25471517 PMID:25741868 PMID:26467025 PMID:26869582 PMID:27572814 PMID:28492532 PMID:28620870 PMID:29875423 PMID:30755392 PMID:31618474 PMID:32042906 PMID:33057194 PMID:33256324 PMID:35982159 PMID:36474027 PMID:36672771 More...
NCBI chrNW_004955532:1,093,444...1,100,591
Ensembl chrNW_004955532:1,092,125...1,100,603
G
R
Qars1
glutaminyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 PMID:25471517 PMID:25741868 PMID:26467025 PMID:26869582 PMID:27572814 PMID:28492532 PMID:28620870 PMID:29875423 PMID:30755392 PMID:31618474 PMID:32042906 PMID:33057194 PMID:33256324 PMID:35982159 PMID:36474027 PMID:36672771 More...
NCBI chr 8:118,086,243...118,094,274
Ensembl chr 8:109,207,705...109,215,739
G
M
Qars1
glutaminyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 PMID:25471517 PMID:25741868 PMID:26467025 PMID:26869582 PMID:27572814 PMID:28492532 PMID:28620870 PMID:29875423 PMID:30755392 PMID:31618474 PMID:32042906 PMID:33057194 PMID:33256324 PMID:35982159 PMID:36474027 PMID:36672771 More...
NCBI chr 9:108,385,204...108,393,140
Ensembl chr 9:108,384,905...108,393,140
G
H
QARS1
glutaminyl-tRNA synthetase 1
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 PMID:25471517 PMID:25741868 PMID:26467025 PMID:26869582 PMID:27572814 PMID:28492532 PMID:28620870 PMID:29875423 PMID:30755392 PMID:31618474 PMID:32042906 PMID:33057194 PMID:33256324 PMID:35982159 PMID:36474027 PMID:36672771 More...
NCBI chr 3:49,095,932...49,104,757
Ensembl chr 3:49,095,932...49,105,130
G
N
Qrich1
glutamine rich 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004624730:3,076,106...3,123,002
G
G
QRICH1
glutamine rich 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:10,430,015...10,496,127
Ensembl chr22:10,430,774...10,478,690
G
S
Qrich1
glutamine rich 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004936529:753,842...802,405
Ensembl chrNW_004936529:753,844...801,861
G
D
QRICH1
glutamine rich 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr20:40,086,141...40,135,810
Ensembl chr20:40,097,149...40,135,140
G
B
QRICH1
glutamine rich 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,954,345...49,018,745
Ensembl chr 3:50,035,676...50,097,596
G
C
Qrich1
glutamine rich 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004955532:1,052,174...1,092,211
Ensembl chrNW_004955532:1,052,174...1,091,449
G
R
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
M
Qrich1
glutamine-rich 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 9:108,394,010...108,437,366
Ensembl chr 9:108,394,005...108,437,362
G
H
QRICH1
glutamine rich 1
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:49,029,707...49,094,373
Ensembl chr 3:49,029,707...49,094,363
G
N
Rtp3
receptor transporter protein 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004624730:74,605,692...74,609,946
G
G
RTP3
receptor transporter protein 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:7,925,733...7,930,132
Ensembl chr22:7,926,804...7,931,187
G
P
RTP3
receptor transporter protein 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr13:29,471,568...29,476,277
G
S
Rtp3
receptor transporter protein 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004936596:392,885...408,892
G
D
RTP3
receptor transporter protein 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr20:42,197,170...42,202,569
Ensembl chr20:42,197,409...42,202,543
G
B
RTP3
receptor transporter protein 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:46,397,231...46,400,221
Ensembl chr 3:47,502,087...47,505,062
G
C
Rtp3
receptor transporter protein 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004955420:25,545,752...25,550,044
G
R
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 8:119,847,947...119,853,549
Ensembl chr 8:110,970,160...110,974,699
G
M
Rtp3
receptor transporter protein 3
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 9:110,814,003...110,818,781
Ensembl chr 9:110,814,003...110,819,651
G
H
RTP3
receptor transporter protein 3
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:46,497,976...46,500,950
Ensembl chr 3:46,494,611...46,500,950
G
N
Sacm1l
SAC1 like phosphatidylinositide phosphatase
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004624730:75,107,294...75,169,527
Ensembl chrNW_004624730:75,113,012...75,169,561
G
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 chr22:7,159,701...7,214,368
Ensembl chr22:7,159,809...7,214,555
G
P
SACM1L
SAC1 like phosphatidylinositide phosphatase
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr13:28,816,977...28,906,503
Ensembl chr13:28,817,132...28,891,685
G
S
Sacm1l
SAC1 like phosphatidylinositide phosphatase
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004936695:196,238...253,128
G
D
SACM1L
SAC1 like phosphatidylinositide phosphatase
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr20:42,731,674...42,791,455
Ensembl chr20:42,720,249...42,791,402
G
B
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 3:45,596,775...45,652,482
Ensembl chr 3:46,704,565...46,760,104
G
C
Sacm1l
SAC1 like phosphatidylinositide phosphatase
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004955420:26,231,597...26,280,516
Ensembl chrNW_004955420:26,229,840...26,280,516
G
R
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
M
Sacm1l
SAC1 suppressor of actin mutations 1-like (yeast)
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 9:123,358,818...123,421,665
Ensembl chr 9:123,358,824...123,421,665
G
H
SACM1L
SAC1 like phosphatidylinositide phosphatase
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:45,689,396...45,745,409
Ensembl chr 3:45,689,056...45,745,412
G
N
Scap
SREBF chaperone
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004624730:73,926,978...73,975,337
Ensembl chrNW_004624730:73,927,010...73,975,337
G
G
SCAP
SREBF chaperone
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:8,821,809...8,887,538
Ensembl chr22:8,818,980...8,850,202
G
P
SCAP
SREBF chaperone
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr13:30,253,262...30,320,625
Ensembl chr13:30,253,268...30,320,526
G
S
Scap
SREBF chaperone
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004936596:1,124,573...1,180,219
Ensembl chrNW_004936596:1,122,042...1,180,297
G
D
SCAP
SREBF chaperone
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr20:41,418,507...41,485,681
Ensembl chr20:41,418,536...41,487,024
G
B
SCAP
SREBF chaperone
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:47,314,535...47,379,455
Ensembl chr 3:48,414,012...48,479,845
G
C
Scap
SREBF chaperone
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004955420:24,813,683...24,869,602
Ensembl chrNW_004955420:24,813,534...24,869,480
G
R
Scap
SREBF chaperone
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:119,184,366...119,239,086
Ensembl chr 8:110,306,031...110,360,666
G
M
Scap
SREBF chaperone
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 9:110,162,356...110,214,017
Ensembl chr 9:110,162,356...110,214,018
G
H
SCAP
SREBF chaperone
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:47,413,681...47,477,127
Ensembl chr 3:47,413,681...47,477,126
G
N
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 chrNW_004624730:74,187,981...74,277,857
Ensembl chrNW_004624730:74,187,995...74,277,200
G
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 chr22:8,421,178...8,567,221
Ensembl chr22:8,420,960...8,567,201
G
P
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 chr13:29,884,708...29,996,285
Ensembl chr13:29,884,719...29,996,359
G
S
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 chrNW_004936596:795,940...898,823
Ensembl chrNW_004936596:796,601...883,373
G
D
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 chr20:41,675,539...41,800,697
Ensembl chr20:41,675,599...41,800,612
G
B
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 3:46,916,615...47,064,046
Ensembl chr 3:48,018,517...48,163,999
G
C
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 chrNW_004955420:25,070,626...25,178,410
Ensembl chrNW_004955420:25,090,798...25,177,760
G
R
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 8:119,390,207...119,475,863
Ensembl chr 8:110,511,772...110,597,489
G
M
Setd2
SET domain containing 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 9:110,361,368...110,447,703
Ensembl chr 9:110,358,262...110,447,701
G
H
SETD2
SET domain containing 2, histone lysine methyltransferase
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113
G
N
Shisa5
shisa family member 5
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004624730:2,416,486...2,448,836
Ensembl chrNW_004624730:2,413,014...2,449,065
G
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 chr22:9,871,882...9,905,733
Ensembl chr22:9,873,019...9,905,308
G
P
SHISA5
shisa family member 5
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr13:31,180,844...31,205,724
Ensembl chr13:31,180,846...31,205,731
G
S
Shisa5
shisa family member 5
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004936529:266,671...292,103
Ensembl chrNW_004936529:266,456...269,732
G
D
SHISA5
shisa family member 5
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr20:40,604,183...40,624,607
Ensembl chr20:40,601,626...40,623,601
G
B
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 3:48,389,924...48,426,064
Ensembl chr 3:49,471,604...49,508,840
G
C
Shisa5
shisa family member 5
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004955532:535,992...544,542
G
R
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 8:118,569,975...118,584,880
Ensembl chr 8:109,691,522...109,706,408
G
M
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 9:108,867,635...108,886,860
Ensembl chr 9:108,867,633...108,886,845
G
H
SHISA5
shisa family member 5
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,467,876...48,504,810
Ensembl chr 3:48,467,798...48,504,826
G
N
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 chrNW_004624730:2,833,785...2,860,711
Ensembl chrNW_004624730:2,832,233...2,860,796
G
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 chr22:10,261,772...10,300,878
Ensembl chr22:10,261,634...10,300,778
G
P
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 chr13:31,523,820...31,553,289
Ensembl chr13:31,523,821...31,553,286
G
S
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 chrNW_004936529:607,035...631,872
Ensembl chrNW_004936529:606,804...631,991
G
D
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 chr20:40,244,222...40,271,100
Ensembl chr20:40,244,229...40,270,433
G
B
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 3:48,782,960...48,824,616
Ensembl chr 3:49,863,259...49,901,839
G
C
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 chrNW_004955532:902,937...933,675
Ensembl chrNW_004955532:902,937...921,174
G
R
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 8:118,243,573...118,265,027
Ensembl chr 8:109,365,002...109,386,512
G
M
Slc25a20
solute carrier family 25 (mitochondrial carnitine/acylcarnitine translocase), member 20
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 9:108,539,335...108,561,841
Ensembl chr 9:108,539,287...108,561,840
G
H
SLC25A20
solute carrier family 25 member 20
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,856,926...48,898,882
Ensembl chr 3:48,856,926...48,898,904
G
N
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 chrNW_004624730:2,639,940...2,649,358
Ensembl chrNW_004624730:2,640,208...2,649,203
G
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 chr22:10,035,676...10,046,274
Ensembl chr22:10,035,478...10,045,304
G
P
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 chr13:31,319,287...31,330,649
Ensembl chr13:31,317,877...31,330,580
G
S
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 chrNW_004936529:425,839...435,590
Ensembl chrNW_004936529:424,720...435,293
G
B
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 3:48,547,277...48,557,099
Ensembl chr 3:49,629,237...49,639,039
G
C
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 chrNW_004955532:713,725...723,190
Ensembl chrNW_004955532:713,215...722,817
G
R
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 8:118,438,110...118,448,271
Ensembl chr 8:109,559,642...109,569,778
G
M
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 9:108,731,239...108,742,117
Ensembl chr 9:108,730,482...108,742,117
G
H
SLC26A6
solute carrier family 26 member 6
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,625,723...48,635,461
Ensembl chr 3:48,625,723...48,635,493
G
N
Slc6a20
solute carrier family 6 member 20
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004624730:75,081,189...75,107,288
Ensembl chrNW_004624730:75,084,748...75,109,112
G
G
SLC6A20
solute carrier family 6 member 20
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:7,228,039...7,265,441
Ensembl chr22:7,228,517...7,265,031
G
P
SLC6A20
solute carrier family 6 member 20
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr13:28,897,831...28,945,191
Ensembl chr13:28,899,821...28,945,187
G
S
Slc6a20
solute carrier family 6 member 20
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004936695:146,571...193,428
Ensembl chrNW_004936695:146,421...195,121
G
D
SLC6A20
solute carrier family 6 member 20
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr20:42,702,368...42,725,804
Ensembl chr20:42,702,379...42,724,658
G
B
SLC6A20
solute carrier family 6 member 20
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:45,663,830...45,703,576
Ensembl chr 3:46,770,067...46,811,158
G
H
SLC6A20
solute carrier family 6 member 20
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:45,755,449...45,796,536
Ensembl chr 3:45,755,449...45,796,574
G
R
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 8:132,159,768...132,200,016
Ensembl chr 8:123,281,472...123,322,573
G
M
Slc6a20b
solute carrier family 6 (neurotransmitter transporter), member 20B
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 9:123,422,888...123,461,603
Ensembl chr 9:123,419,865...123,461,630
G
N
Smarcc1
SWI/SNF related BAF chromatin remodeling complex subunit C1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004624730:73,696,734...73,856,082
Ensembl chrNW_004624730:73,696,749...73,856,082
G
G
SMARCC1
SWI/SNF related BAF chromatin remodeling complex subunit C1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:8,987,936...9,167,689
Ensembl chr22:8,987,012...9,134,946
G
P
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 chr13:30,409,979...30,576,270
Ensembl chr13:30,409,983...30,576,327
G
S
Smarcc1
SWI/SNF related BAF chromatin remodeling complex subunit C1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004936596:1,257,723...1,407,358
Ensembl chrNW_004936596:1,255,054...1,408,038
G
D
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 chr20:41,165,593...41,337,237
Ensembl chr20:41,165,522...41,335,917
G
B
SMARCC1
SWI/SNF related BAF chromatin remodeling complex subunit C1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:47,487,948...47,683,623
Ensembl chr 3:48,590,221...48,781,248
G
C
Smarcc1
SWI/SNF related BAF chromatin remodeling complex subunit C1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004955420:24,594,057...24,729,108
Ensembl chrNW_004955420:24,593,830...24,729,108
G
R
Smarcc1
SWI/SNF related BAF chromatin remodeling complex subunit C1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:118,986,917...119,093,161
Ensembl chr 8:110,111,122...110,214,720
G
M
Smarcc1
SWI/SNF related BAF chromatin remodeling complex subunit C1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 9:109,961,129...110,069,773
Ensembl chr 9:109,946,776...110,069,246
G
H
SMARCC1
SWI/SNF related BAF chromatin remodeling complex subunit C1
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:47,585,269...47,781,893
Ensembl chr 3:47,585,269...47,782,106
G
N
Spink8
serine peptidase inhibitor Kazal type 8 (putative)
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004624730:73,399,530...73,409,788
G
G
SPINK8
serine peptidase inhibitor Kazal type 8 (putative)
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:9,702,931...9,734,555
Ensembl chr22:9,703,065...9,726,287
G
D
SPINK8
serine peptidase inhibitor Kazal type 8 (putative)
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr20:40,737,192...40,753,887
Ensembl chr20:40,737,264...40,753,712
G
B
SPINK8
serine peptidase inhibitor Kazal type 8 (putative)
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,219,663...48,249,064
Ensembl chr 3:49,304,505...49,327,704
G
C
Spink8
serine peptidase inhibitor Kazal type 8 (putative)
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004955420:24,283,223...24,298,948
G
R
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
M
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 9:109,641,271...109,655,696
Ensembl chr 9:109,641,348...109,655,701
G
H
SPINK8
serine peptidase inhibitor Kazal type 8 (putative)
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,306,842...48,333,661
Ensembl chr 3:48,306,842...48,333,661
G
D
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 chr27:40,713,865...40,714,228
Ensembl chr27:40,713,879...40,714,073
G
B
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 3:48,362,222...48,366,235
Ensembl chr 3:49,445,111...49,448,009
G
C
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 chrNW_004955420:16,389,256...16,389,553
G
R
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
M
Tma7
translational machinery associated 7
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 9:108,907,056...108,911,449
Ensembl chr 9:108,903,636...108,911,655
G
H
TMA7
translation machinery associated 7 homolog
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,440,257...48,444,208
Ensembl chr 3:48,440,257...48,444,208
G
N
Tmem89
transmembrane protein 89
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004624730:2,634,999...2,637,832
Ensembl chrNW_004624730:2,636,577...2,637,473
G
G
TMEM89
transmembrane protein 89
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:10,029,176...10,030,420
Ensembl chr22:10,029,181...10,030,078
G
P
TMEM89
transmembrane protein 89
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr13:31,315,148...31,316,849
Ensembl chr13:31,315,737...31,316,740
G
S
Tmem89
transmembrane protein 89
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004936529:422,145...424,320
Ensembl chrNW_004936529:423,025...423,958
G
D
TMEM89
transmembrane protein 89
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr20:40,496,844...40,497,742
Ensembl chr20:40,496,844...40,497,742
G
B
TMEM89
transmembrane protein 89
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,542,058...48,543,674
Ensembl chr 3:49,624,215...49,625,444
G
R
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
M
Tmem89
transmembrane protein 89
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 9:108,743,687...108,744,631
Ensembl chr 9:108,743,687...108,744,631
G
H
TMEM89
transmembrane protein 89
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,620,759...48,621,769
Ensembl chr 3:48,620,759...48,621,769
G
N
Tmie
transmembrane inner ear
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004624730:74,498,257...74,506,180
Ensembl chrNW_004624730:74,498,281...74,505,041
G
G
TMIE
transmembrane inner ear
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:8,114,995...8,133,827
G
P
TMIE
transmembrane inner ear
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr13:29,623,905...29,633,016
Ensembl chr13:29,624,154...29,633,013
G
S
Tmie
transmembrane inner ear
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004936596:531,260...540,608
Ensembl chrNW_004936596:531,254...541,693
G
D
TMIE
transmembrane inner ear
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr20:42,052,607...42,061,424
Ensembl chr20:42,053,817...42,061,262
G
B
TMIE
transmembrane inner ear
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:46,590,527...46,608,981
G
C
Tmie
transmembrane inner ear
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004955420:25,428,542...25,435,701
Ensembl chrNW_004955420:25,428,503...25,435,701
G
R
Tmie
transmembrane inner ear
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:119,728,123...119,743,219
Ensembl chr 8:110,850,034...110,864,803
G
M
Tmie
transmembrane inner ear
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 9:110,694,755...110,709,141
Ensembl chr 9:110,694,779...110,709,181
G
H
TMIE
transmembrane inner ear
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:46,693,778...46,710,886
Ensembl chr 3:46,694,528...46,710,886
G
N
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 chrNW_004624730:2,431,270...2,433,010
Ensembl chrNW_004624730:2,431,999...2,432,959
G
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 chr22:9,869,502...9,871,659
G
P
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 chr13:31,177,604...31,180,764
Ensembl chr13:31,179,291...31,180,747
G
S
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 chrNW_004936529:264,535...266,451
Ensembl chrNW_004936529:264,468...266,422
G
D
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 chr20:40,624,845...40,626,840
Ensembl chr20:40,624,891...40,626,906
G
B
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 3:48,387,762...48,389,693
Ensembl chr 3:49,470,222...49,471,331
G
C
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 chrNW_004955532:533,877...535,767
Ensembl chrNW_004955532:533,877...535,767
G
R
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 8:118,585,082...118,586,382
Ensembl chr 8:109,706,613...109,708,796
G
M
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 9:108,887,000...108,888,791
Ensembl chr 9:108,887,001...108,888,802
G
H
TREX1
three prime repair exonuclease 1
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
G
N
Ucn2
urocortin 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004624730:2,567,154...2,568,387
G
G
UCN2
urocortin 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:9,962,339...9,964,553
G
P
UCN2
urocortin 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr13:31,261,196...31,261,824
Ensembl chr13:31,261,196...31,261,534
G
S
Ucn2
urocortin 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004936529:347,411...348,040
G
D
UCN2
urocortin 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr20:40,551,060...40,552,920
G
B
UCN2
urocortin 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,484,628...48,485,179
G
C
Ucn2
urocortin 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004955532:648,845...650,020
G
R
Ucn2
urocortin 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 8:118,516,111...118,517,660
Ensembl chr 8:109,638,285...109,639,172
G
M
Ucn2
urocortin 2
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 9:108,815,231...108,816,232
Ensembl chr 9:108,815,078...108,816,232
G
H
UCN2
urocortin 2
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,561,718...48,563,781
Ensembl chr 3:48,561,718...48,563,781
G
G
UQCRC1
ubiquinol-cytochrome c reductase core protein I
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:10,000,432...10,012,524
Ensembl chr22:10,000,864...10,012,202
G
P
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 chr13:31,298,449...31,308,719
Ensembl chr13:31,298,449...31,309,516
G
D
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 chr20:40,507,767...40,515,854
Ensembl chr20:40,506,907...40,520,110
G
R
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 8:118,468,223...118,479,968
Ensembl chr 8:109,589,706...109,601,480
G
M
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 9:108,765,716...108,778,709
Ensembl chr 9:108,765,701...108,778,691
G
H
UQCRC1
ubiquinol-cytochrome c reductase core protein 1
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,599,002...48,609,646
Ensembl chr 3:48,599,002...48,610,976
G
N
Wdr6
WD repeat domain 6
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004624730:3,058,947...3,063,709
Ensembl chrNW_004624730:3,055,610...3,063,153
G
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 chr22:10,407,421...10,416,295
Ensembl chr22:10,407,703...10,415,633
G
P
WDR6
WD repeat domain 6
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr13:31,642,207...31,651,367
Ensembl chr13:31,642,325...31,651,361
G
S
Wdr6
WD repeat domain 6
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004936529:731,958...741,334
Ensembl chrNW_004936529:730,716...745,427
G
D
WDR6
WD repeat domain 6
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr20:40,148,262...40,157,770
Ensembl chr20:40,148,928...40,157,650
G
B
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 3:48,931,669...48,940,591
Ensembl chr 3:50,013,708...50,021,367
G
C
Wdr6
WD repeat domain 6
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chrNW_004955532:1,029,857...1,039,020
Ensembl chrNW_004955532:1,028,466...1,039,020
G
R
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
M
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 9:108,449,510...108,455,862
Ensembl chr 9:108,449,510...108,455,938
G
H
WDR6
WD repeat domain 6
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:49,007,391...49,015,951
Ensembl chr 3:49,007,062...49,015,953
G
N
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 chrNW_004624730:74,913,815...74,921,198
Ensembl chrNW_004624730:74,915,383...74,919,308
G
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 chr22:7,495,008...7,503,202
Ensembl chr22:7,496,260...7,497,261
G
P
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 chr13:29,150,376...29,233,802
Ensembl chr13:29,150,379...29,159,637
G
S
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 chrNW_004936596:93,433...94,480
Ensembl chrNW_004936596:93,433...94,434
G
D
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 chr20:42,505,534...42,516,524
Ensembl chr20:42,511,431...42,512,423
G
B
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 3:45,922,985...45,934,332
Ensembl chr 3:47,033,084...47,034,085
G
R
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 8:132,357,020...132,393,596
Ensembl chr 8:123,479,590...123,487,226
G
M
Xcr1
chemokine (C motif) receptor 1
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 9:123,681,380...123,691,094
Ensembl chr 9:123,681,380...123,691,094
G
H
XCR1
X-C motif chemokine receptor 1
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:46,017,007...46,085,844
Ensembl chr 3:46,016,990...46,085,825
G
G
ZNF589
zinc finger protein 589
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr22:9,626,332...9,662,734
G
B
ZNF589
zinc finger protein 589
ISO
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,155,002...48,188,343
G
H
ZNF589
zinc finger protein 589
IAGP
ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
ClinVar
PMID:28492532
NCBI chr 3:48,241,104...48,270,990
Ensembl chr 3:48,241,100...48,299,253
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
288179
Developmental Disease
170851
Neurodevelopmental Disorders
76987
Developmental Disabilities
8201
cerebellar hypoplasia
1047
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY
10
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA
17
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA
10
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS
20
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy
641
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay
10
lissencephaly 7 with cerebellar hypoplasia
10
Path 2
disease
288179
disease of anatomical entity
271815
nervous system disease
190640
central nervous system disease
157774
brain disease
148547
disease of mental health
111500
Neurodevelopmental Disorders
76987
Developmental Disabilities
8201
cerebellar hypoplasia
1047
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY
10
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA
17
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA
10
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS
20
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy
641
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay
10
lissencephaly 7 with cerebellar hypoplasia
10