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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:Malformations of Cortical Development, Group I
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Accession:DOID:9005611 term browser browse the term
Definition:Cortical malformations secondary to abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS in NEUROGENESIS. This group includes congenital MICROCEPHALIES; MICROLISSENCEPHALIES, megalencephalies, HEMIMEGALENCEPHALIES and cortical dysplasias with balloon cells.
Synonyms:exact_synonym: Abnormal Proliferation Cortical Malformations;   Cortical Malformations, Group I;   Malformations Due to Abnormal Neuronal and Glial Proliferation or Apoptosis;   Malformations Secondary to Abnormal Neuronal and Glial Proliferation or Apoptosis
 primary_id: MESH:D065703


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Al-Raqad Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcps decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Al-Raqad syndrome | ClinVar Annotator: match by term: DCPS-related condition OMIM
ClinVar		 PMID:25701870 PMID:25712129 PMID:25741868 PMID:28492532 PMID:30289615 NCBI chr 9:35,035,710...35,087,283
Ensembl chr 9:35,035,704...35,087,357 		JBrowse link
Amish Lethal Microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 ISO ClinVar Annotator: match by term: Amish lethal microcephaly | ClinVar Annotator: match by term: Microcephaly, Amish type | ClinVar Annotator: match by term: SLC25A19-related condition | ClinVar Annotator: match by term: THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE)
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:12185364 PMID:19798730 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:115,504,991...115,519,122
Ensembl chr11:115,505,004...115,519,121 		JBrowse link
Arboleda-Tham syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat6a K(lysine) acetyltransferase 6A ISO ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | ClinVar Annotator: match by term: KAT6A syndrome | ClinVar Annotator: match by term: KAT6A-related condition | ClinVar Annotator: match by term: KAT6A-related neurodevelopmental disorder with multiple anomalies OMIM
ClinVar		 PMID:17374998 PMID:23431171 PMID:25728775 PMID:25728777 PMID:25741868 More... NCBI chr 8:23,349,458...23,433,275
Ensembl chr 8:23,349,551...23,433,275 		JBrowse link
Asparagine Synthetase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asns asparagine synthetase ISO OMIM NCBI chr 6:7,675,169...7,693,209
Ensembl chr 6:7,675,169...7,693,254 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Asparagine synthetase deficiency ClinVar PMID:25741868 PMID:28492532 PMID:33864888 NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991 		JBrowse link
autosomal dominant intellectual developmental disorder 63 with macrocephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trio triple functional domain (PTPRF interacting) ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY OMIM
ClinVar		 PMID:25741868 PMID:26721934 PMID:27418539 PMID:28492532 PMID:28796471 More... NCBI chr15:27,730,735...28,025,954
Ensembl chr15:27,730,737...28,025,934 		JBrowse link
autosomal dominant primary microcephaly 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb1 lamin B1 ISO ClinVar Annotator: match by term: LMNB1-related primary microcephaly | ClinVar Annotator: match by term: Microcephaly 26, primary, autosomal dominant OMIM
ClinVar		 PMID:25741868 PMID:32910914 PMID:33033404 NCBI chr18:56,840,885...56,886,496
Ensembl chr18:56,840,885...56,886,496 		JBrowse link
autosomal dominant primary microcephaly 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb2 lamin B2 susceptibility ISO ClinVar Annotator: match by term: Microcephaly 27, primary, autosomal dominant ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:33033404 NCBI chr10:80,737,197...80,754,079
Ensembl chr10:80,737,037...80,754,079 		JBrowse link
Baralle-Macken Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copb1 coatomer protein complex, subunit beta 1 ISO ClinVar Annotator: match by term: Baralle-Macken syndrome OMIM
ClinVar		 PMID:25741868 PMID:33632302 NCBI chr 7:113,814,794...113,853,915
Ensembl chr 7:113,814,794...113,853,946 		JBrowse link
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome OMIM
ClinVar		 PMID:25488817 PMID:25527630 PMID:25741868 PMID:25792360 PMID:28170084 More... NCBI chr 7:44,526,189...44,544,771
Ensembl chr 7:44,526,189...44,542,136 		JBrowse link
Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome ClinVar PMID:15241795 PMID:16571647 PMID:16905551 PMID:17701892 PMID:18435798 More... NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		JBrowse link
G Thoc6 THO complex 6 ISO ClinVar Annotator: match by term: THOC6-related condition | ClinVar Annotator: match by term: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:21270786 PMID:23621916 PMID:25741868 More... NCBI chr17:23,887,592...23,892,891
Ensembl chr17:23,887,588...23,892,856 		JBrowse link
Bloom syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Blm Bloom syndrome, RecQ like helicase ISO
IAGP 		ClinVar Annotator: match by term: BLM-related condition | ClinVar Annotator: match by term: Bloom syndrome | ClinVar Annotator: match by term: Bloom-Torre-Machacek syndrome
OMIM:210900
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:2678854 PMID:7585968 PMID:7799980 PMID:9285778 PMID:9388480 More... RGD:1599420, RGD:1580056 NCBI chr 7:80,104,839...80,184,896
Ensembl chr 7:80,104,481...80,184,867 		JBrowse link
G Nsmce2 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase IAGP OMIM:210900 MouseDO NCBI chr15:59,246,047...59,473,538
Ensembl chr15:59,246,096...59,473,533 		JBrowse link
G Ung uracil DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2106500 NCBI chr 5:114,268,427...114,277,382
Ensembl chr 5:114,268,447...114,277,384 		JBrowse link
brain small vessel disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a2 collagen, type IV, alpha 2 susceptibility ISO ClinVar Annotator: match by term: COL4A2-related condition | ClinVar Annotator: match by term: COL4A2-related disorder | ClinVar Annotator: match by term: Porencephaly 2 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22209246 PMID:22209247 More... NCBI chr 8:11,362,878...11,499,287
Ensembl chr 8:11,362,805...11,499,287 		JBrowse link
Cardiofacioneurodevelopmental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc32 coiled-coil domain containing 32 ISO ClinVar Annotator: match by term: Cardiofacioneurodevelopmental syndrome OMIM
ClinVar		 PMID:25741868 PMID:32307552 PMID:35451546 NCBI chr 2:118,848,260...118,859,887
Ensembl chr 2:118,848,260...118,859,874 		JBrowse link
Christianson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549 PMID:18414213 PMID:19241098 PMID:19564592 PMID:20397747 More... NCBI chr  X:159,567,241...159,777,673
Ensembl chr  X:159,554,919...159,777,700 		JBrowse link
G Hivep2 human immunodeficiency virus type I enhancer binding protein 2 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:25741868 NCBI chr10:13,841,819...14,027,122
Ensembl chr10:13,841,819...14,027,118 		JBrowse link
G Slc9a6 solute carrier family 9 (sodium/hydrogen exchanger), member 6 ISO
IAGP 		ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: SLC9A6-related condition
ClinVar Annotator: match by term: Angelman syndrome-like | ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: SLC9A6-related condition
ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type
CTD Direct Evidence: marker/mechanism
OMIM:300243 		OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:10528855 PMID:15319456 PMID:15358621 PMID:16019685 More... NCBI chr  X:55,654,921...55,709,590
Ensembl chr  X:55,655,117...55,709,590 		JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: VAN ASPEREN SYNDROME ClinVar PMID:7655472 PMID:10678181 PMID:10712197 PMID:16199547 PMID:17311297 More... NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		JBrowse link
G Rnf135 ring finger protein 135 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome 		CTD
ClinVar		 PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chr11:80,074,652...80,090,581
Ensembl chr11:80,074,677...80,090,583 		JBrowse link
chromosome 1q21.1 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja5 gap junction protein, alpha 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome 		CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 3:96,939,718...96,960,950
Ensembl chr 3:96,812,009...96,984,732 		JBrowse link
G Gja8 gap junction protein, alpha 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 1q21.1 Deletion | ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome 		CTD
ClinVar		 PMID:25741868 PMID:26694549 PMID:28492532 PMID:28827829 PMID:29464339 NCBI chr 3:96,820,882...96,833,367
Ensembl chr 3:96,820,882...96,833,336 		JBrowse link
CK syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: CK syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH THIN BODY HABITUS AND CORTICAL MALFORMATION OMIM
ClinVar		 PMID:18414213 PMID:19377476 PMID:21129721 PMID:21290788 PMID:25741868 More... NCBI chr  X:71,962,127...72,002,134
Ensembl chr  X:71,962,163...72,002,120 		JBrowse link
cleft palate, cardiac defects, and intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Meis2 Meis homeobox 2 ISO ClinVar Annotator: match by term: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | ClinVar Annotator: match by term: MEIS2-related disorder
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:24678003 PMID:25712757 PMID:25741868 More... NCBI chr 2:115,691,745...115,897,925
Ensembl chr 2:115,693,545...115,896,320 		JBrowse link
Cohen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: VPS13B-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr15:36,175,629...36,235,767
Ensembl chr15:36,178,245...36,235,767 		JBrowse link
G Vps13b vacuolar protein sorting 13B ISO
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: PEPPER SYNDROME | ClinVar Annotator: match by term: Pepper syndrome | ClinVar Annotator: match by term: VPS13B-related condition
OMIM:216550 		OMIM
CTD
ClinVar
MouseDO		 PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 More... NCBI chr15:35,371,264...35,931,375
Ensembl chr15:35,371,306...35,931,375 		JBrowse link
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanogenesis associated transcription factor ISO ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness ClinVar
OMIM		 PMID:2440678 PMID:8659547 PMID:16199547 PMID:20127975 PMID:22012259 More... NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
Cowden syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9002682 NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
G Gm36566 predicted gene, 36566 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar NCBI chr19:32,731,847...32,734,812 JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:20538126 PMID:21376320 PMID:25487149 PMID:25647241 PMID:25741868 More... NCBI chr 9:21,634,872...21,661,215
Ensembl chr 9:21,634,779...21,661,215 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:15520168 PMID:22658544 PMID:22729222 PMID:23100325 PMID:23946963 More... NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635 		JBrowse link
G Pten phosphatase and tensin homolog susceptibility IMP
ISO
IAGP 		ClinVar Annotator: match by term: Cowden syndrome 1 | ClinVar Annotator: match by term: Hamartomatous polyposis | ClinVar Annotator: match by term: Lhermitte-Duclos disease | ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome
CTD Direct Evidence: marker/mechanism
OMIM:153480
DNA:deletion:exon:c.950_953delTACT (human)
mRNA:spice variants:lymphocyte (human)
DNA:missense mutation, nonsense mutations:cds:p.G129E, p.E157X, p.R233X (human)
DNA:deletions:multiple (human) 		OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:947011 PMID:1097835 PMID:1147684 PMID:1336932 PMID:1945792 More... RGD:1302552, RGD:12859041, RGD:12859035, RGD:12802361, RGD:12802356 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Sdhb succinate dehydrogenase complex, subunit B, iron sulfur (Ip) ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:19802898 PMID:20923864 PMID:21979946 PMID:23072324 PMID:23512077 More... NCBI chr 4:140,688,582...140,706,509
Ensembl chr 4:140,688,514...140,706,504 		JBrowse link
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Manf mesencephalic astrocyte-derived neurotrophic factor ISO ClinVar Annotator: match by term: Diabetes, deafness, developmental delay, and short stature syndrome OMIM
ClinVar		 PMID:25741868 PMID:26077850 PMID:33500254 NCBI chr 9:106,765,952...106,769,137
Ensembl chr 9:106,715,511...106,769,178 		JBrowse link
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdh12 protocadherin 12 ISO ClinVar Annotator: match by term: Diencephalic-mesencephalic junction dysplasia syndrome 1 | ClinVar Annotator: match by term: PCDH12-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30178464 NCBI chr18:38,400,145...38,417,454
Ensembl chr18:38,400,142...38,417,455 		JBrowse link
Faundes-Banka Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif5a eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Faundes-Banka syndrome OMIM
ClinVar		 PMID:25741868 PMID:33547280 NCBI chr11:69,807,538...69,812,784
Ensembl chr11:69,807,540...69,812,784 		JBrowse link
Feingold syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE | ClinVar Annotator: match by term: OCULODIGITOESOPHAGODUODENAL SYNDROME | ClinVar Annotator: match by term: ODED SYNDROME 		CTD
ClinVar		 PMID:1459449 PMID:15821734 PMID:18470948 PMID:18671284 PMID:19852433 More... NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915 		JBrowse link
Feingold Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived ISO ClinVar Annotator: match by term: MYCN-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915 		JBrowse link
Feingold Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir17hg Mir17 host gene (non-protein coding) ISO ClinVar Annotator: match by term: BRACHYDACTYLY WITH SHORT STATURE AND MICROCEPHALY ClinVar PMID:21892160 PMID:23495052 PMID:25741868 NCBI chr14:115,281,822...115,284,160
Ensembl chr14:115,278,211...115,284,162 		JBrowse link
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase, Na+/K+ transporting, alpha 2 polypeptide ISO ClinVar Annotator: match by term: Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies OMIM
ClinVar		 PMID:15159495 PMID:15174025 PMID:17142831 PMID:18414213 PMID:18728015 More... NCBI chr 1:172,099,276...172,125,631
Ensembl chr 1:172,099,276...172,125,631 		JBrowse link
Filippi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ckap2l cytoskeleton associated protein 2-like ISO ClinVar Annotator: match by term: CKAP2L-related condition | ClinVar Annotator: match by term: Filippi syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 More... NCBI chr 2:129,110,130...129,139,148
Ensembl chr 2:129,110,130...129,139,132 		JBrowse link
Focal Cortical Dysplasia of Taylor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO protein:decreased expression, altered localization:cerebral cortex: RGD PMID:22752548 RGD:9068443 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebral cortex RGD PMID:22459050 RGD:8547829 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: CORTICAL DYSPLASIA OF TAYLOR | ClinVar Annotator: match by term: Cortical dysplasia of Taylor
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:16199547 PMID:17360675 PMID:20190810 PMID:23322780 PMID:23636326 More... NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: CORTICAL DYSPLASIA OF TAYLOR | ClinVar Annotator: match by term: Cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia type II
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 More... NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CORTICAL DYSPLASIA OF TAYLOR | ClinVar Annotator: match by term: Cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia type II 		CTD
ClinVar
OMIM		 PMID:8824881 PMID:9302281 PMID:9463313 PMID:9536098 PMID:9829910 More... NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604 		JBrowse link
Focal Cortical Dysplasia of Taylor, Type IIB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Cortical dysplasia of Taylor with balloon cells ClinVar PMID:9328481 PMID:9863590 PMID:9924605 PMID:10227394 PMID:10533067 More... NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179 		JBrowse link
Galloway-Mowat syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:31481669 NCBI chr12:102,719,534...102,724,069
Ensembl chr12:102,719,534...102,724,062 		JBrowse link
G Lage3 L antigen family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:73,395,768...73,397,224
Ensembl chr  X:73,394,882...73,397,224 		JBrowse link
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:28106320 PMID:28492532 NCBI chr 8:124,623,862...124,676,019
Ensembl chr 8:124,623,862...124,676,004 		JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Galloway-Mowat syndrome 		CTD
ClinVar		 PMID:17897280 PMID:25741868 PMID:28272532 PMID:28492532 PMID:28805828 More... NCBI chr14:51,152,831...51,162,350
Ensembl chr14:51,143,935...51,162,350 		JBrowse link
G Tprkb Tp53rk binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 6:85,888,842...85,907,266
Ensembl chr 6:85,888,847...85,907,266 		JBrowse link
G Trp53rka transformation related protein 53 regulating kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 2:165,332,032...165,335,244
Ensembl chr 2:165,332,030...165,335,244 		JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chr17:31,713,296...31,738,946
Ensembl chr17:31,713,296...31,738,954 		JBrowse link
G Wdr73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Galloway-Mowat syndrome 		CTD
ClinVar		 PMID:25466283 PMID:25741868 NCBI chr 7:80,540,471...80,551,017
Ensembl chr 7:80,540,471...80,551,017 		JBrowse link
G Zfp592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr 7:80,643,432...80,694,912
Ensembl chr 7:80,643,429...80,694,912 		JBrowse link
Galloway-Mowat syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eng endoglin ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 More... NCBI chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681 		JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 | ClinVar Annotator: match by term: WDR73-related condition OMIM
ClinVar		 PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 More... NCBI chr 7:80,540,471...80,551,017
Ensembl chr 7:80,540,471...80,551,017 		JBrowse link
G Zfp592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chr 7:80,643,432...80,694,912
Ensembl chr 7:80,643,429...80,694,912 		JBrowse link
Galloway-Mowat Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Yrdc yrdC domain containing (E.coli) ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 | ClinVar Annotator: match by term: YRDC-related condition OMIM
ClinVar		 PMID:28492532 PMID:31481669 PMID:34545459 NCBI chr 4:124,744,552...124,749,035
Ensembl chr 4:124,744,472...124,749,035 		JBrowse link
Galloway-Mowat syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked | ClinVar Annotator: match by term: LAGE3-related condition OMIM
ClinVar		 PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828 NCBI chr  X:73,395,768...73,397,224
Ensembl chr  X:73,394,882...73,397,224 		JBrowse link
Galloway-Mowat syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 | ClinVar Annotator: match by term: OSGEP-related condition OMIM
ClinVar		 PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More... NCBI chr14:51,152,831...51,162,350
Ensembl chr14:51,143,935...51,162,350 		JBrowse link
Galloway-Mowat syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp53rka transformation related protein 53 regulating kinase A ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 | ClinVar Annotator: match by term: TP53RK-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 PMID:36873107 NCBI chr 2:165,332,032...165,335,244
Ensembl chr 2:165,332,030...165,335,244 		JBrowse link
Galloway-Mowat syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tprkb Tp53rk binding protein ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 5 | ClinVar Annotator: match by term: TPRKB-related disorder OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 NCBI chr 6:85,888,842...85,907,266
Ensembl chr 6:85,888,847...85,907,266 		JBrowse link
Galloway-Mowat Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 OMIM
ClinVar		 PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 More... NCBI chr17:31,713,296...31,738,946
Ensembl chr17:31,713,296...31,738,954 		JBrowse link
Galloway-Mowat Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 7 OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:28492532 More... NCBI chr10:117,586,526...117,628,607
Ensembl chr10:117,586,526...117,628,610 		JBrowse link
Galloway-Mowat Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 | ClinVar Annotator: match by term: NUP133-related condition OMIM
ClinVar		 PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 NCBI chr 8:124,623,862...124,676,019
Ensembl chr 8:124,623,862...124,676,004 		JBrowse link
Galloway-Mowat Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 9 OMIM
ClinVar		 PMID:25741868 PMID:31481669 NCBI chr12:102,719,534...102,724,069
Ensembl chr12:102,719,534...102,724,062 		JBrowse link
Hemimegalencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxp1 forkhead box P1 ISO protein:altered expression:neocortex (human) RGD PMID:22759905 RGD:11560525 NCBI chr 6:98,902,303...99,510,587
Ensembl chr 6:98,902,299...99,499,682 		JBrowse link
G Grin1 glutamate receptor, ionotropic, NMDA1 (zeta 1) ISO ClinVar Annotator: match by term: Hemimegalencephaly ClinVar PMID:25741868 NCBI chr 2:25,181,189...25,209,199
Ensembl chr 2:25,181,193...25,209,199 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Unilateral Megalencephaly ClinVar PMID:24631838 PMID:25799227 PMID:28864461 PMID:29281825 NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Unilateral Megalencephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635 		JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Hemimegalencephaly ClinVar PMID:25741868 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Rheb Ras homolog enriched in brain ISO ClinVar Annotator: match by term: Hemimegalencephaly ClinVar PMID:30414531 NCBI chr 5:25,007,821...25,047,359
Ensembl chr 5:25,007,821...25,047,622
Ensembl chr 5:25,007,821...25,047,622 		JBrowse link
G Rps6 ribosomal protein S6 ISO ClinVar Annotator: match by term: Hemimegalencephaly ClinVar NCBI chr 4:86,772,336...86,775,604
Ensembl chr 4:86,772,897...86,775,649 		JBrowse link
Heyn-Sproul-Jackson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt3a DNA methyltransferase 3A ISO ClinVar Annotator: match by term: Heyn-Sproul-Jackson syndrome OMIM
ClinVar		 PMID:11836534 PMID:15456878 PMID:16357870 PMID:23849776 PMID:25741868 More... NCBI chr12:3,851,559...3,964,442
Ensembl chr12:3,856,007...3,964,443 		JBrowse link
Hoyeraal-Hreidarsson Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:35007328 NCBI chr 3:103,707,921...103,716,703
Ensembl chr 3:103,707,921...103,716,760 		JBrowse link
G Dkc1 dyskeratosis congenita 1, dyskerin ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:7607282 PMID:10583221 PMID:12437656 PMID:16332973 PMID:19734544 More... NCBI chr  X:74,139,460...74,153,382
Ensembl chr  X:74,139,460...74,153,383 		JBrowse link
G Pot1a protection of telomeres 1A ISO ClinVar Annotator: match by term: Cerebellar hypoplasia with pancytopenia ClinVar PMID:25741868 PMID:28492532 PMID:29625052 PMID:32155570 PMID:36113475 NCBI chr 6:25,743,939...25,809,280
Ensembl chr 6:25,743,736...25,809,245 		JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO DNA:nonsense mutation, missense mutation:cds:c.C2920T:p.R974X, c.G1476T:p.M492I (human) RGD PMID:23959892 RGD:152977765 NCBI chr 2:180,961,504...180,998,409
Ensembl chr 2:180,961,532...180,998,409 		JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar hypoplasia with pancytopenia 		CTD
ClinVar		 PMID:17785587 PMID:20502709 PMID:25741868 PMID:28492532 PMID:34890115 More... NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962 		JBrowse link
G Tinf2 Terf1 (TRF1)-interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr14:55,912,120...55,919,265
Ensembl chr14:55,912,146...55,919,277 		JBrowse link
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eefsec eukaryotic elongation factor, selenocysteine-tRNA-specific ISO ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ClinVar PMID:25741868 PMID:39753114 NCBI chr 6:88,234,318...88,423,489
Ensembl chr 6:88,234,316...88,423,521 		JBrowse link
G Med17 mediator complex subunit 17 ISO ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | ClinVar Annotator: match by term: MED17-related condition OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:20950787 PMID:25741868 PMID:26004231 More... NCBI chr 9:15,171,647...15,194,576
Ensembl chr 9:15,171,647...15,191,227 		JBrowse link
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pus7 pseudouridylate synthase 7 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | ClinVar Annotator: match by term: PUS7-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30526862 PMID:30778726 PMID:35144859 NCBI chr 5:23,945,163...23,988,709
Ensembl chr 5:23,945,646...23,988,709 		JBrowse link
Intellectual Developmental Disorder with Autism and Macrocephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with autism and macrocephaly OMIM
ClinVar		 PMID:18414213 PMID:22495309 PMID:23160955 PMID:24998929 PMID:25326635 More... NCBI chr14:52,435,608...52,495,499
Ensembl chr14:52,435,608...52,495,237 		JBrowse link
Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phf21a PHD finger protein 21A ISO ClinVar Annotator: match by term: Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | ClinVar Annotator: match by term: PHF21A-related condition OMIM
ClinVar		 PMID:2857172 PMID:22770980 PMID:25741868 PMID:28492532 PMID:30487643 More... NCBI chr 2:92,014,096...92,195,011
Ensembl chr 2:92,014,451...92,195,011 		JBrowse link
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with macrocephaly, seizures, and speech delay ClinVar PMID:25741868 NCBI chr 2:29,084,738...29,138,111
Ensembl chr 2:29,084,553...29,143,017 		JBrowse link
G Pak1 p21 (RAC1) activated kinase 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with macrocephaly, seizures, and speech delay | ClinVar Annotator: match by term: PAK1-related condition | ClinVar Annotator: match by term: PAK1-related neurodevelopmental disorders OMIM
ClinVar		 PMID:10975528 PMID:25741868 PMID:28492532 PMID:30290153 PMID:31504246 More... NCBI chr 7:97,437,748...97,561,588
Ensembl chr 7:97,437,748...97,561,588 		JBrowse link
Juberg-Hayward Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 ISO ClinVar Annotator: match by term: Cleft lip/palate with abnormal thumbs and microcephaly | ClinVar Annotator: match by term: Juberg-Hayward syndrome | ClinVar Annotator: match by term: Orocraniodigital syndrome OMIM
ClinVar		 PMID:1642282 PMID:15821733 PMID:16380922 PMID:18411254 PMID:18414213 More... NCBI chr14:66,056,476...66,071,418
Ensembl chr14:66,056,487...66,071,443 		JBrowse link
G Flna filamin, alpha ISO ClinVar Annotator: match by term: Cranio-oro-digital syndrome
ClinVar Annotator: match by term: Cleft lip/palate with abnormal thumbs and microcephaly | ClinVar Annotator: match by term: Cranio-oro-digital syndrome 		ClinVar PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
Kaufman oculocerebrofacial syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pafah1b1 platelet-activating factor acetylhydrolase, isoform 1b, subunit 1 ISO ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome ClinVar PMID:11115846 NCBI chr11:74,564,775...74,615,210
Ensembl chr11:74,564,775...74,615,496 		JBrowse link
G Ube3b ubiquitin protein ligase E3B ISO
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome | ClinVar Annotator: match by term: Oculocerebrofacial syndrome, Kaufman type | ClinVar Annotator: match by term: UBE3B-related condition
OMIM:244450 		CTD
ClinVar
MouseDO
OMIM		 PMID:1694631 PMID:9536098 PMID:14556252 PMID:16199547 PMID:17576681 More... NCBI chr 5:114,518,578...114,559,226
Ensembl chr 5:114,518,668...114,559,230 		JBrowse link
Kniest Like Dysplasia Lethal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspg2 perlecan (heparan sulfate proteoglycan 2) ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 More... NCBI chr 4:137,196,062...137,297,941
Ensembl chr 4:137,196,080...137,297,941 		JBrowse link
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekhg2 pleckstrin homology domain containing, family G (with RhoGef domain) member 2 ISO ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia | ClinVar Annotator: match by term: PLEKHG2-related condition OMIM
ClinVar		 PMID:25741868 PMID:26573021 PMID:28492532 PMID:34326120 PMID:35203342 NCBI chr 7:28,059,028...28,072,818
Ensembl chr 7:28,059,029...28,072,024 		JBrowse link
Li-Takada-Miyake syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gon4l gon-4 like ISO ClinVar Annotator: match by term: GON4L-related disorder | ClinVar Annotator: match by term: LI-TAKADA-MIYAKE SYNDROME ClinVar
OMIM		 PMID:39500882 NCBI chr 3:88,742,531...88,817,406
Ensembl chr 3:88,742,535...88,817,410 		JBrowse link
linear skin defects with multiple congenital anomalies 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox7b cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: COX7B-related condition | ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 2 OMIM
ClinVar		 PMID:9747372 PMID:23122588 PMID:25741868 PMID:28492532 NCBI chr  X:105,059,306...105,066,056
Ensembl chr  X:105,059,306...105,066,056 		JBrowse link
lissencephaly 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation ClinVar PMID:10873396 PMID:22412862 PMID:25741868 PMID:28492532 NCBI chr11:71,919,527...71,933,184
Ensembl chr11:71,918,789...71,928,335 		JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation ClinVar PMID:18414213 PMID:18976153 PMID:19181906 PMID:19464101 PMID:20981092 More... NCBI chr17:27,057,638...27,063,962
Ensembl chr17:27,057,638...27,063,983 		JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Lissencephaly 3 | ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation | ClinVar Annotator: match by term: Lissencephaly type 3 | ClinVar Annotator: match by term: TUBA1A-associated tubulinopathy | ClinVar Annotator: match by term: TUBA1A-related condition | ClinVar Annotator: match by term: Tubulinopathy-associated dysgyria
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds 		OMIM
ClinVar
CTD
RGD		 PMID:17218254 PMID:17584854 PMID:18199681 PMID:18414213 PMID:18669490 More... RGD:11067701 NCBI chr15:98,847,728...98,851,382
Ensembl chr15:98,847,718...98,851,584 		JBrowse link
lissencephaly 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh11 myosin, heavy polypeptide 11, smooth muscle ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) ClinVar NCBI chr16:14,012,392...14,109,227
Ensembl chr16:14,012,399...14,109,236 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) | ClinVar Annotator: match by term: NDE1-related condition OMIM
ClinVar		 PMID:18414213 PMID:21529751 PMID:21529752 PMID:24033266 PMID:25326635 More... NCBI chr16:13,981,139...14,010,792
Ensembl chr16:13,981,139...14,010,792 		JBrowse link
lissencephaly 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Katnb1 katanin p80 (WD40-containing) subunit B 1 ISO ClinVar Annotator: match by term: KATNB1-related condition | ClinVar Annotator: match by term: Lissencephaly 6 with microcephaly OMIM
ClinVar		 PMID:25521378 PMID:25521379 PMID:25741868 PMID:28492532 NCBI chr 8:95,807,804...95,826,502
Ensembl chr 8:95,807,814...95,829,777 		JBrowse link
Lui-Jee-Baron syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spin4 spindlin family, member 4 ISO OMIM NCBI chr  X:94,066,113...94,070,288
Ensembl chr  X:94,066,116...94,070,288 		JBrowse link
Luscan-Lumish Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Setd2 SET domain containing 2 ISO ClinVar Annotator: match by term: Luscan-Lumish syndrome | ClinVar Annotator: match by term: Luscan-lumish syndrome | ClinVar Annotator: match by term: SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:20864444 PMID:22495309 PMID:23160955 More... NCBI chr 9:110,361,368...110,447,703
Ensembl chr 9:110,358,262...110,447,701 		JBrowse link
Macrocephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP-binding cassette, sub-family C member 8 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chr 7:45,753,952...45,829,441
Ensembl chr 7:45,753,947...45,829,457 		JBrowse link
G Abcc9 ATP-binding cassette, sub-family C member 9 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:22608503 PMID:22610116 PMID:23307537 PMID:25741868 PMID:25790160 More... NCBI chr 6:142,533,592...142,648,472
Ensembl chr 6:142,533,588...142,648,041 		JBrowse link
G Akt3 thymoma viral proto-oncogene 3 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chr 1:176,847,642...177,091,688
Ensembl chr 1:176,847,639...177,085,769 		JBrowse link
G Ankrd11 ankyrin repeat domain 11 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:123,610,060...123,769,023
Ensembl chr 8:123,610,561...123,769,016 		JBrowse link
G Ccnd2 cyclin D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29642246 NCBI chr 6:127,102,125...127,131,913
Ensembl chr 6:127,102,125...127,129,156 		JBrowse link
G Chd8 chromodomain helicase DNA binding protein 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Macrocephaly 		CTD
ClinVar		 PMID:24998929 PMID:25741868 PMID:30670789 PMID:32267004 NCBI chr14:52,435,608...52,495,499
Ensembl chr14:52,435,608...52,495,237 		JBrowse link
G Col11a2 collagen, type XI, alpha 2 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:24033266 PMID:28492532 NCBI chr17:34,257,462...34,285,659
Ensembl chr17:34,258,411...34,285,659 		JBrowse link
G Fam177a family with sequence similarity 177, member A ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25558065 NCBI chr12:55,171,313...55,188,889
Ensembl chr12:55,171,254...55,188,889 		JBrowse link
G Foxo4 forkhead box O4 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 NCBI chr  X:100,297,855...100,304,479
Ensembl chr  X:100,298,134...100,304,479 		JBrowse link
G Kcna6 potassium voltage-gated channel, shaker-related, subfamily, member 6 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 NCBI chr 6:126,685,292...126,717,610
Ensembl chr 6:126,685,292...126,717,637 		JBrowse link
G Lrp10 low-density lipoprotein receptor-related protein 10 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:26076356 NCBI chr14:54,701,260...54,707,749
Ensembl chr14:54,701,594...54,708,954 		JBrowse link
G Map1b microtubule-associated protein 1B ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 NCBI chr13:99,557,972...99,653,110
Ensembl chr13:99,557,954...99,653,048 		JBrowse link
G Morc4 microrchidia 4 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 NCBI chr  X:138,722,384...138,772,440
Ensembl chr  X:138,722,381...138,772,426 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 PMID:28492532 PMID:33077954 PMID:34197453 NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140 		JBrowse link
G Nfia nuclear factor I/A ISO ClinVar Annotator: match by term: Macrocephaly ClinVar NCBI chr 4:97,469,534...98,007,113
Ensembl chr 4:97,660,971...98,007,111 		JBrowse link
G Nfib nuclear factor I/B ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 PMID:30388402 PMID:39825153 NCBI chr 4:82,208,410...82,424,988
Ensembl chr 4:82,208,410...82,623,987 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Megalencephaly, autosomal dominant ClinVar PMID:21270786 PMID:25741868 PMID:27631024 PMID:27981572 PMID:28492532 More... NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635 		JBrowse link
G Pten phosphatase and tensin homolog ISO DNA:missense mutation:cds:p.M134I (human)
ClinVar Annotator: match by term: Macrocephaly 		ClinVar
RGD		 PMID:10772390 PMID:21828076 PMID:25741868 PMID:28492532 PMID:23124040 RGD:12859034 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Slc25a22 solute carrier family 25 (mitochondrial carrier, glutamate), member 22 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:141,009,662...141,017,787
Ensembl chr 7:141,009,657...141,017,805 		JBrowse link
G Trit1 tRNA isopentenyltransferase 1 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 PMID:30977854 PMID:36047296 NCBI chr 4:122,910,342...122,948,742
Ensembl chr 4:122,910,390...122,948,742 		JBrowse link
G Wdfy3 WD repeat and FYVE domain containing 3 ISO ClinVar Annotator: match by term: Macrocephaly ClinVar PMID:25741868 PMID:31327001 NCBI chr 5:101,980,819...102,220,081
Ensembl chr 5:101,980,822...102,217,787 		JBrowse link
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Macrocephaly with multiple epiphyseal dysplasia and distinctive facies
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9689990 PMID:16199547 PMID:19666503 PMID:21552264 PMID:21633164 More... NCBI chr 7:79,347,846...79,365,520
Ensembl chr 7:79,347,846...79,365,468 		JBrowse link
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfib nuclear factor I/B ISO ClinVar Annotator: match by term: Macrocephaly, acquired, with impaired intellectual development | ClinVar Annotator: match by term: NFIB-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30388402 PMID:39825153 NCBI chr 4:82,208,410...82,424,988
Ensembl chr 4:82,208,410...82,623,987 		JBrowse link
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rin2 Ras and Rab interactor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MACS SYNDROME | ClinVar Annotator: match by term: RIN2-related condition | ClinVar Annotator: match by term: TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS 		OMIM
CTD
ClinVar		 PMID:19631308 PMID:20424861 PMID:20954239 PMID:24449201 PMID:25741868 More... NCBI chr 2:145,613,647...145,729,536
Ensembl chr 2:145,517,135...145,729,536 		JBrowse link
Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erc1 ELKS/RAB6-interacting/CAST family member 1 ISO ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation ClinVar PMID:25741868 NCBI chr 6:119,547,757...119,830,985
Ensembl chr 6:119,547,757...119,825,128 		JBrowse link
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: HERC1-related disorder | ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation OMIM
ClinVar		 PMID:25741868 PMID:26138117 PMID:26153217 PMID:27108999 PMID:28492532 More... NCBI chr 9:66,257,694...66,416,057
Ensembl chr 9:66,257,732...66,416,057 		JBrowse link
MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb7a zinc finger and BTB domain containing 7a ISO ClinVar Annotator: match by term: Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin OMIM
ClinVar		 PMID:25741868 PMID:31645653 PMID:34515416 NCBI chr10:80,971,113...80,988,056
Ensembl chr10:80,971,054...80,988,829 		JBrowse link
macrocephaly-autism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pten phosphatase and tensin homolog ISO
IAGP 		DNA:missense mutations:cds:p.H93R, p.D252G, p.F241S (human)
ClinVar Annotator: match by term: Macrocephaly-autism syndrome | ClinVar Annotator: match by term: Macrocephaly/autism syndrome
CTD Direct Evidence: marker/mechanism
OMIM:605309 		OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:1336932 PMID:9140396 PMID:9241266 PMID:9259288 PMID:9399897 More... RGD:12832751 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Wdfy3 WD repeat and FYVE domain containing 3 ISO ClinVar Annotator: match by term: Macrocephaly-autism syndrome ClinVar PMID:32720330 NCBI chr 5:101,980,819...102,220,081
Ensembl chr 5:101,980,822...102,217,787 		JBrowse link
mandibulofacial dysostosis, Guion-Almeida type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO ClinVar Annotator: match by term: EFTUD2-related condition | ClinVar Annotator: match by term: Mandibulofacial dysostosis-microcephaly syndrome
DNA:mutations:multiple (human) 		OMIM
ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:16760738 PMID:17576681 PMID:19334086 More... RGD:10045557 NCBI chr11:102,729,298...102,771,999
Ensembl chr11:102,729,299...102,771,811 		JBrowse link
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability ClinVar PMID:26153217 PMID:27108999 NCBI chr 9:66,257,694...66,416,057
Ensembl chr 9:66,257,732...66,416,057 		JBrowse link
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 thymoma viral proto-oncogene 3 ISO ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome ClinVar PMID:22729224 PMID:23745724 PMID:25416470 PMID:25523067 PMID:28086757 More... NCBI chr 1:176,847,642...177,091,688
Ensembl chr 1:176,847,639...177,085,769 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION | ClinVar Annotator: match by term: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME | ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome | ClinVar Annotator: match by term: PIK3CA related overgrowth spectrum OMIM
ClinVar		 PMID:15016963 PMID:15520168 PMID:15608678 PMID:15930273 PMID:16353168 More... NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Vascular Malformations and Overgrowth ClinVar PMID:25741868 PMID:34040190 NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725 		JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Megalencephaly cutis marmorata telangiectatica congenita ClinVar PMID:16357568 PMID:21984976 PMID:22729224 PMID:24497998 PMID:25741868 More... NCBI chr 8:71,220,820...71,229,356
Ensembl chr 8:71,220,820...71,229,357 		JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION ClinVar PMID:24469055 PMID:25741868 PMID:28492532 NCBI chr 3:88,624,154...88,638,354
Ensembl chr 3:88,624,145...88,638,356 		JBrowse link
Megalencephaly-Polydactyly Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived ISO ClinVar Annotator: match by term: Megalencephaly-polydactyly syndrome OMIM
ClinVar		 PMID:18470948 PMID:20301770 PMID:25741868 PMID:28492532 NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915 		JBrowse link
MEHMO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2s3x eukaryotic translation initiation factor 2, subunit 3, structural gene X-linked ISO ClinVar Annotator: match by term: EIF2S3-related condition | ClinVar Annotator: match by term: MEHMO syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:23063529 PMID:25741868 PMID:25741869 PMID:27333055 PMID:28055140 More... NCBI chr  X:93,232,315...93,256,257
Ensembl chr  X:93,232,313...93,256,468 		JBrowse link
Microcephalic Osteodysplastic Primordial Dwarfism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcnt pericentrin (kendrin) ISO ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr10:76,187,098...76,279,988
Ensembl chr10:76,187,097...76,278,620 		JBrowse link
microcephalic osteodysplastic primordial dwarfism type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta ISO ClinVar Annotator: match by term: Brachymelic primordial dwarfism ClinVar PMID:22958901 PMID:24111713 PMID:25741868 PMID:28492532 PMID:28798025 More... NCBI chr14:55,208,141...55,232,083
Ensembl chr14:55,208,141...55,232,083 		JBrowse link
G Ryr2 ryanodine receptor 2, cardiac ISO ClinVar Annotator: match by term: MOPD I ClinVar PMID:25741868 PMID:26743238 PMID:28492532 PMID:28771489 PMID:30615648 More... NCBI chr13:11,567,985...12,121,831
Ensembl chr13:11,567,988...12,121,831 		JBrowse link
microcephalic osteodysplastic primordial dwarfism type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcnt pericentrin (kendrin) ISO
IAGP 		ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II | ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities | ClinVar Annotator: match by term: OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II | ClinVar Annotator: match by term: PCNT-related condition
CTD Direct Evidence: marker/mechanism
OMIM:210720
DNA:frameshift mutations, nonsense mutation:exon:p.E220X (658G>T), 1887del, 3568_3569insT (human)
DNA:frameshift mutations, nonsense mutations, splice-site mutations:exon, intron:multiple
DNA:mutations: :multiple
DNA:deletion, nonsense mutations:exon:p.K3154del (c.9460_9462del), p.E1154X (c.3460G>T), p.P1923X (c.5765C>T) (human) 		OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:9536098 PMID:12210304 PMID:15372530 PMID:16199547 PMID:17576681 More... RGD:11537403, RGD:11537402, RGD:11537401, RGD:11537400 NCBI chr10:76,187,098...76,279,988
Ensembl chr10:76,187,097...76,278,620 		JBrowse link
Microcephalic Osteodysplastic Primordial Dwarfism, Type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh11 myosin, heavy polypeptide 11, smooth muscle ISO ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE ClinVar PMID:25741868 PMID:28492532 NCBI chr16:14,012,392...14,109,227
Ensembl chr16:14,012,399...14,109,236 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE ClinVar PMID:25741868 PMID:28492532 NCBI chr16:13,981,139...14,010,792
Ensembl chr16:13,981,139...14,010,792 		JBrowse link
G Ryr2 ryanodine receptor 2, cardiac ISO ClinVar Annotator: match by term: MOPD III ClinVar PMID:25351510 PMID:25741868 PMID:28237968 PMID:28492532 PMID:31195250 More... NCBI chr13:11,567,985...12,121,831
Ensembl chr13:11,567,988...12,121,831 		JBrowse link
microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aaas achalasia, adrenocortical insufficiency, alacrimia ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr15:102,246,682...102,259,194
Ensembl chr15:102,246,687...102,259,206 		JBrowse link
G Abl1 c-abl oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:33223528 NCBI chr 2:31,578,256...31,697,105
Ensembl chr 2:31,578,388...31,694,239 		JBrowse link
G Acadsb acyl-Coenzyme A dehydrogenase, short/branched chain ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:131,012,330...131,047,940
Ensembl chr 7:131,012,330...131,050,673 		JBrowse link
G Ace angiotensin I converting enzyme ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790 		JBrowse link
G Actg1 actin, gamma, cytoplasmic 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:120,236,513...120,239,321
Ensembl chr11:120,236,516...120,239,368 		JBrowse link
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:89,622,321...89,660,756
Ensembl chr 3:89,622,329...89,660,753 		JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:77,126,561...77,254,125
Ensembl chr10:77,126,560...77,254,104 		JBrowse link
G Add3 adducin 3 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr19:53,128,874...53,235,518
Ensembl chr19:53,128,874...53,235,830 		JBrowse link
G Adgrl2 adhesion G protein-coupled receptor L2 IMP RGD PMID:30340542 RGD:13838661 NCBI chr 3:148,521,491...149,150,832
Ensembl chr 3:148,521,219...148,696,191 		JBrowse link
G Adnp activity-dependent neuroprotective protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 2:168,022,885...168,049,032
Ensembl chr 2:168,022,906...168,049,032 		JBrowse link
G Agt angiotensinogen ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445 		JBrowse link
G Alg13 asparagine-linked glycosylation 13 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:23033978 PMID:23934111 PMID:24781210 PMID:24896178 PMID:25732998 More... NCBI chr  X:143,100,962...143,157,446
Ensembl chr  X:143,100,800...143,157,446 		JBrowse link
G Alpl alkaline phosphatase, liver/bone/kidney ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:9452105 PMID:11760847 PMID:12162492 PMID:18455459 PMID:18769927 More... NCBI chr 4:137,469,042...137,523,695
Ensembl chr 4:137,469,044...137,523,695 		JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:59,201,915...59,276,390
Ensembl chr 1:59,202,085...59,276,390 		JBrowse link
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:107,981,375...107,993,982
Ensembl chr 3:107,981,378...107,993,967 		JBrowse link
G Ank1 ankyrin 1, erythroid ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:23,464,852...23,640,517
Ensembl chr 8:23,464,860...23,640,513 		JBrowse link
G Ankle2 ankyrin repeat and LEM domain containing 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:23806086 PMID:24088041 PMID:25259927 NCBI chr 5:110,378,847...110,404,517
Ensembl chr 5:110,378,870...110,404,513 		JBrowse link
G Ap4m1 adaptor-related protein complex AP-4, mu 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24700674 PMID:25558065 PMID:25741868 PMID:32979048 NCBI chr 5:138,170,283...138,178,691
Ensembl chr 5:138,170,264...138,178,691 		JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 9:44,653,440...44,679,105
Ensembl chr 9:44,652,861...44,679,142 		JBrowse link
G Arfgef2 ARF guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:166,647,371...166,739,972
Ensembl chr 2:166,647,508...166,739,972 		JBrowse link
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 3:88,500,427...88,556,839
Ensembl chr 3:88,513,273...88,555,359 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr17:5,044,481...5,397,931
Ensembl chr17:5,044,607...5,397,931 		JBrowse link
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr15:96,185,403...96,303,344
Ensembl chr15:96,185,399...96,302,873 		JBrowse link
G Arvcf armadillo repeat gene deleted in velocardiofacial syndrome ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr16:18,166,046...18,225,826
Ensembl chr16:18,166,046...18,225,826 		JBrowse link
G Aspm abnormal spindle microtubule assembly treatment IMP
ISO
IAGP 		ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive
OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 		ClinVar
MouseDO
RGD		 PMID:19028728 PMID:20301772 PMID:20679666 PMID:22823409 PMID:23611254 More... RGD:13439744, RGD:13439744 NCBI chr 1:139,381,450...139,421,826
Ensembl chr 1:139,382,510...139,421,829 		JBrowse link
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 2:153,187,750...153,245,927
Ensembl chr 2:153,187,749...153,245,927 		JBrowse link
G Atm ataxia telangiectasia mutated ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:19781682 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30287823 More... NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040 		JBrowse link
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:60,291,450...60,309,427
Ensembl chr11:60,291,452...60,309,283 		JBrowse link
G Atr ataxia telangiectasia and Rad3 related ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:95,739,655...95,834,813
Ensembl chr 9:95,739,650...95,833,834 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr  X:104,841,221...104,972,978
Ensembl chr  X:104,841,221...104,973,009 		JBrowse link
G Bcap31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:72,729,784...72,761,464
Ensembl chr  X:72,729,784...72,759,781 		JBrowse link
G Bcl11b B cell leukemia/lymphoma 11B ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr12:107,876,662...107,970,404
Ensembl chr12:107,876,662...107,969,861 		JBrowse link
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:22277967 PMID:25741868 PMID:28492532 PMID:31316545 PMID:32581362 More... NCBI chr 1:74,627,448...74,631,602
Ensembl chr 1:74,627,448...74,631,602 		JBrowse link
G Blm Bloom syndrome, RecQ like helicase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32566746 NCBI chr 7:80,104,839...80,184,896
Ensembl chr 7:80,104,481...80,184,867 		JBrowse link
G Bptf bromodomain PHD finger transcription factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:106,923,907...107,022,982
Ensembl chr11:106,923,907...107,022,953 		JBrowse link
G Bub1b BUB1B, mitotic checkpoint serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15475955 NCBI chr 2:118,428,684...118,472,073
Ensembl chr 2:118,428,692...118,472,072 		JBrowse link
G Camk2b calcium/calmodulin-dependent protein kinase II, beta ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:29100089 PMID:30842224 PMID:31036916 More... NCBI chr11:5,919,642...6,016,401
Ensembl chr11:5,919,644...6,016,362 		JBrowse link
G Cars2 cysteinyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:11,564,017...11,600,781
Ensembl chr 8:11,563,977...11,600,783 		JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19165920 NCBI chr  X:13,383,319...13,713,020
Ensembl chr  X:13,383,319...13,717,606 		JBrowse link
G Cbl Casitas B-lineage lymphoma ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:43,819,715...43,898,317
Ensembl chr 5:43,819,688...43,898,314 		JBrowse link
G Ccdc88a coiled coil domain containing 88A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:29,323,521...29,460,808
Ensembl chr11:29,323,658...29,460,808 		JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr16:18,599,202...18,632,371
Ensembl chr16:18,599,197...18,630,737 		JBrowse link
G Cdc6 cell division cycle 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr11:98,798,627...98,814,768
Ensembl chr11:98,798,627...98,814,766 		JBrowse link
G Cdk19 cyclin dependent kinase 19 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:40,225,283...40,359,814
Ensembl chr10:40,215,560...40,359,814 		JBrowse link
G Cdk5rap2 CDK5 regulatory subunit associated protein 2 ISO
IAGP 		DNA:mutations:splice junction:c.383+1G>C,c.4005-9A>G(human)
ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive
OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 		ClinVar
MouseDO
RGD		 PMID:18414213 PMID:20301772 PMID:25741868 PMID:28492532 PMID:32581362 More... RGD:13450906 NCBI chr 4:70,135,092...70,328,672
Ensembl chr 4:70,135,093...70,328,680 		JBrowse link
G Cdon cell adhesion molecule-related/down-regulated by oncogenes ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 9:35,332,836...35,418,948
Ensembl chr 9:35,332,424...35,418,948 		JBrowse link
G Cenpf centromere protein F ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:189,372,803...189,420,302
Ensembl chr 1:189,372,803...189,420,283 		JBrowse link
G Cep152 centrosomal protein 152 ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar PMID:25741868 NCBI chr 2:125,391,784...125,467,081
Ensembl chr 2:125,405,008...125,467,033 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:31970223 NCBI chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		JBrowse link
G Cep63 centrosomal protein 63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983783 NCBI chr 9:102,461,784...102,503,748
Ensembl chr 9:102,461,787...102,503,733 		JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar NCBI chr 7:73,076,400...73,191,494
Ensembl chr 7:73,076,386...73,191,578 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659 		JBrowse link
G Cit citron ISO RGD PMID:10219263 RGD:13204836 NCBI chr 5:115,983,284...116,147,012
Ensembl chr 5:115,983,337...116,147,006 		JBrowse link
G Clcn4 chloride channel, voltage-sensitive 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:7,285,308...7,303,837
Ensembl chr 7:7,285,308...7,303,850 		JBrowse link
G Col4a1 collagen, type IV, alpha 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826 		JBrowse link
G Col7a1 collagen, type VII, alpha 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:12787275 PMID:22266148 PMID:25741868 PMID:28492532 PMID:28830826 More... NCBI chr 9:108,782,654...108,813,943
Ensembl chr 9:108,782,654...108,813,943 		JBrowse link
G Copb2 COPI coat complex subunit beta 2 IAGP OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 MouseDO NCBI chr 9:98,445,784...98,470,428
Ensembl chr 9:98,445,774...98,470,435 		JBrowse link
G Cpap centrosome assembly and centriole elongation protein ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr14:56,764,218...56,812,950
Ensembl chr14:56,764,218...56,812,882 		JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:107,761,179...107,780,786
Ensembl chr 4:107,761,178...107,780,807 		JBrowse link
G Cspp1 centrosome and spindle pole associated protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:10,108,194...10,206,996
Ensembl chr 1:10,108,212...10,206,993 		JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Progressive microcephaly ClinVar PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 More... NCBI chr10:78,261,504...78,263,456
Ensembl chr10:78,261,503...78,263,456 		JBrowse link
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26633546 PMID:27480277 More... NCBI chr 8:123,202,882...123,209,831
Ensembl chr 8:123,202,882...123,210,877 		JBrowse link
G Ddx11 DEAD/H box helicase 11 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr17:66,430,508...66,459,169
Ensembl chr17:66,430,515...66,459,169 		JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Congenital microcephaly | ClinVar Annotator: match by term: Microcephaly ClinVar PMID:9634533 PMID:9653161 PMID:10602371 PMID:10677299 PMID:10814720 More... NCBI chr 7:143,376,827...143,402,147
Ensembl chr 7:143,376,882...143,402,147 		JBrowse link
G Diaph1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24781755 PMID:25558065 PMID:25741868 PMID:28492532 PMID:34515852 NCBI chr18:37,976,654...38,068,573
Ensembl chr18:37,976,654...38,068,529 		JBrowse link
G Dna2 DNA replication helicase/nuclease 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr10:62,782,762...62,809,967
Ensembl chr10:62,782,805...62,809,964 		JBrowse link
G Dnm1l dynamin 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17460227 NCBI chr16:16,130,092...16,176,863
Ensembl chr16:16,130,094...16,176,823 		JBrowse link
G Dnmt3a DNA methyltransferase 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:30478443 NCBI chr12:3,851,559...3,964,442
Ensembl chr12:3,856,007...3,964,443 		JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:21,711,476...21,764,006
Ensembl chr 9:21,711,156...21,763,931 		JBrowse link
G Donson downstream neighbor of SON ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly 		CTD
ClinVar		 PMID:25741868 PMID:27040692 PMID:28191891 PMID:28331220 PMID:28492532 More... NCBI chr16:91,463,744...91,485,702
Ensembl chr16:91,473,696...91,485,658 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23603762 NCBI chr12:110,567,829...110,633,378
Ensembl chr12:110,567,886...110,633,379 		JBrowse link
G Dyrk1a dual-specificity tyrosine phosphorylation regulated kinase 1a ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25167861 PMID:25326635 PMID:25641759 PMID:25741868 PMID:25920557 More... NCBI chr16:94,370,770...94,496,378
Ensembl chr16:94,370,869...94,496,376 		JBrowse link
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO associated with mandibulofacial dysostosis, Guion-Almeida type;DNA:mutations:cds:multiple RGD PMID:24470203 RGD:155791662 NCBI chr11:102,729,298...102,771,999
Ensembl chr11:102,729,299...102,771,811 		JBrowse link
G Eif2b1 eukaryotic translation initiation factor 2B, subunit alpha ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 5:124,708,277...124,717,194
Ensembl chr 5:124,708,276...124,717,194 		JBrowse link
G Elac2 elaC ribonuclease Z 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr11:64,869,856...64,892,906
Ensembl chr11:64,869,864...64,892,895 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278 		JBrowse link
G Epg5 ectopic P-granules 5 autophagy tethering factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr18:77,981,618...78,080,539
Ensembl chr18:77,981,680...78,078,228 		JBrowse link
G Epm2a epilepsy, progressive myoclonic epilepsy, type 2 gene alpha ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr10:11,218,435...11,335,408
Ensembl chr10:11,219,148...11,335,388 		JBrowse link
G Ercc4 excision repair cross-complementing rodent repair deficiency, complementation group 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:28767289 NCBI chr16:12,927,600...12,969,873
Ensembl chr16:12,927,548...12,968,481 		JBrowse link
G Ercc6 excision repair cross-complementing rodent repair deficiency, complementation group 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10739753 PMID:18628313 NCBI chr14:32,235,248...32,302,947
Ensembl chr14:32,235,478...32,302,947 		JBrowse link
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr15:52,931,657...53,209,579
Ensembl chr15:52,927,434...53,209,555 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr  X:74,213,950...74,426,342
Ensembl chr  X:74,216,321...74,426,221 		JBrowse link
G Fam111a family with sequence similarity 111, member A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr19:12,550,874...12,567,133
Ensembl chr19:12,523,104...12,567,132 		JBrowse link
G Fance Fanconi anemia, complementation group E ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr17:28,532,504...28,545,548
Ensembl chr17:28,532,493...28,545,546 		JBrowse link
G Fanci Fanconi anemia, complementation group I ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:79,042,056...79,100,013
Ensembl chr 7:79,041,677...79,100,012 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:38,939,867...39,066,134
Ensembl chr 3:38,941,089...39,066,134 		JBrowse link
G Fcna ficolin A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 2:25,514,677...25,525,448
Ensembl chr 2:25,514,678...25,518,042 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354 		JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 5:108,842,051...108,854,816
Ensembl chr 5:108,840,248...108,854,790 		JBrowse link
G Fh1 fumarate hydratase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:30548481 NCBI chr 1:175,428,944...175,453,201
Ensembl chr 1:175,427,940...175,453,201 		JBrowse link
G Flna filamin, alpha ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
G Foxg1 forkhead box G1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital microcephaly 		CTD
ClinVar		 PMID:18627055 PMID:25741868 NCBI chr12:49,429,666...49,433,650
Ensembl chr12:49,429,443...49,433,644 		JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:96,518,622...96,932,592
Ensembl chr 5:96,521,814...96,932,587 		JBrowse link
G Frem1 Fras1 related extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 4:82,816,157...82,970,743
Ensembl chr 4:82,816,164...82,970,576 		JBrowse link
G Frem2 Fras1 related extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:53,421,359...53,566,014
Ensembl chr 3:53,421,359...53,564,776 		JBrowse link
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 2:4,022,461...4,618,854
Ensembl chr 2:4,022,528...4,618,854 		JBrowse link
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:18672102 PMID:19302747 PMID:19678963 PMID:21110066 PMID:21519287 More... NCBI chr14:63,436,363...63,509,161
Ensembl chr14:63,436,371...63,509,141 		JBrowse link
G Gemin4 gem nuclear organelle associated protein 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25558065 PMID:25741868 PMID:27878435 NCBI chr11:76,101,397...76,108,398
Ensembl chr11:76,101,397...76,108,490 		JBrowse link
G Gli2 GLI-Kruppel family member GLI2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:118,761,791...118,987,578
Ensembl chr 1:118,761,862...118,981,349 		JBrowse link
G Gnao1 guanine nucleotide binding protein, alpha O ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:23993195 PMID:25741868 PMID:25966631 PMID:26060304 PMID:27072799 More... NCBI chr 8:94,537,213...94,696,016
Ensembl chr 8:94,536,594...94,696,016 		JBrowse link
G Gnb1 guanine nucleotide binding protein (G protein), beta 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:27108799 PMID:28492532 PMID:30194818 PMID:31735425 More... NCBI chr 4:155,575,514...155,643,726
Ensembl chr 4:155,575,818...155,643,726 		JBrowse link
G Grin2a glutamate receptor, ionotropic, NMDA2A (epsilon 1) ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr16:9,385,765...9,813,744
Ensembl chr16:9,385,762...9,813,424 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr10:119,289,810...119,923,172
Ensembl chr10:119,289,735...119,923,166 		JBrowse link
G H4c14 H4 clustered histone 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28920961 NCBI chr 3:96,170,250...96,170,633
Ensembl chr 3:96,168,998...96,170,627 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chr18:36,899,581...36,916,258
Ensembl chr18:36,899,581...36,916,258 		JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:91,856,501...92,123,424
Ensembl chr 1:91,856,501...92,123,421 		JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:2323782 PMID:15571220 PMID:17027311 PMID:22157001 PMID:23975452 More... NCBI chr  X:52,076,955...52,110,537
Ensembl chr  X:52,077,014...52,110,536 		JBrowse link
G Hspg2 perlecan (heparan sulfate proteoglycan 2) ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:137,196,062...137,297,941
Ensembl chr 4:137,196,080...137,297,941 		JBrowse link
G Iba57 IBA57 homolog, iron-sulfur cluster assembly ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:59,046,194...59,055,391
Ensembl chr11:59,046,195...59,054,565 		JBrowse link
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:115,830,340...115,903,660
Ensembl chr 6:115,830,431...115,903,660 		JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr17:25,235,056...25,318,461
Ensembl chr17:25,235,059...25,318,469 		JBrowse link
G Ift74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:94,491,503...94,581,470
Ensembl chr 4:94,502,728...94,581,466 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO DNA:nonsense mutation,haploinsufficiency :cds: RGD PMID:20668042 RGD:8548823 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
G Ino80 INO80 complex subunit ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:25558065 PMID:25741868 NCBI chr 2:119,203,523...119,308,168
Ensembl chr 2:119,203,523...119,308,168 		JBrowse link
G Iqsec2 IQ motif and Sec7 domain 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr  X:150,927,179...151,008,233
Ensembl chr  X:150,927,193...151,008,232 		JBrowse link
G Itgb6 integrin beta 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 2:60,428,636...60,553,005
Ensembl chr 2:60,428,636...60,552,987 		JBrowse link
G Jarid2 jumonji and AT-rich interaction domain containing 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr13:44,881,817...45,075,119
Ensembl chr13:44,882,950...45,075,119 		JBrowse link
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr19:37,364,830...37,410,311
Ensembl chr19:37,364,851...37,410,307 		JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr11:70,591,170...70,622,796
Ensembl chr11:70,591,374...70,622,790 		JBrowse link
G Kif20b kinesin family member 20B IAGP OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 MouseDO NCBI chr19:34,899,735...34,953,150
Ensembl chr19:34,899,761...34,953,145 		JBrowse link
G Kif23 kinesin family member 23 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:26539891 NCBI chr 9:61,824,559...61,854,078
Ensembl chr 9:61,823,187...61,854,056 		JBrowse link
G Kif2a kinesin family member 2A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly 		CTD
ClinVar		 PMID:23603762 PMID:25741868 PMID:28492532 NCBI chr13:107,095,504...107,158,931
Ensembl chr13:107,095,504...107,158,634 		JBrowse link
G Kif5c kinesin family member 5C ISO CTD Direct Evidence: marker/mechanism CTD PMID:23603762 NCBI chr 2:49,509,298...49,664,790
Ensembl chr 2:49,509,310...49,664,790 		JBrowse link
G Kifbp kinesin family binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:15883926 NCBI chr10:62,394,249...62,414,846
Ensembl chr10:62,374,405...62,414,236 		JBrowse link
G Kmt2a lysine (K)-specific methyltransferase 2A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 9:44,714,652...44,793,492
Ensembl chr 9:44,714,652...44,792,594 		JBrowse link
G Kmt2c lysine (K)-specific methyltransferase 2C ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:39013459 NCBI chr 5:25,476,793...25,703,853
Ensembl chr 5:25,476,796...25,703,781 		JBrowse link
G Kmt2d lysine (K)-specific methyltransferase 2D ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:21671394 PMID:22126750 PMID:25741868 PMID:28492532 PMID:30107592 NCBI chr15:98,729,550...98,771,958
Ensembl chr15:98,729,550...98,769,085 		JBrowse link
G Knl1 kinetochore scaffold 1 ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 2:118,877,600...118,940,978
Ensembl chr 2:118,877,600...118,935,982 		JBrowse link
G Lars1 leucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr18:42,335,363...42,395,302
Ensembl chr18:42,335,363...42,395,259 		JBrowse link
G Lins1 lines homolog 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:66,339,565...66,367,004
Ensembl chr 7:66,339,637...66,367,004 		JBrowse link
G Lmnb1 lamin B1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr18:56,840,885...56,886,496
Ensembl chr18:56,840,885...56,886,496 		JBrowse link
G Lrp5 low density lipoprotein receptor-related protein 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr19:3,634,825...3,736,574
Ensembl chr19:3,634,828...3,736,564 		JBrowse link
G Masp1 MBL associated serine protease 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr16:23,261,778...23,340,127
Ensembl chr16:23,268,167...23,339,565 		JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:48,839,511...49,209,702
Ensembl chr 2:48,839,520...49,215,417 		JBrowse link
G Mcm4 minichromosome maintenance complex component 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr16:15,441,761...15,455,264
Ensembl chr16:15,441,761...15,455,264 		JBrowse link
G Mcph1 microcephaly, primary autosomal recessive 1 no_association ISO
IAGP
IMP 		DNA:nonsense mutation:cds:p.S25X (human)
ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive
OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703
DNA:SNP: :c.940G>C (g.37995G>C) (human) 		ClinVar
MouseDO
RGD		 PMID:25741868 PMID:12046007 PMID:23683352 PMID:19267414 RGD:9589021, RGD:13204745, RGD:13204744 NCBI chr 8:18,645,132...18,858,110
Ensembl chr 8:18,645,147...18,853,205 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:11007980 PMID:11071498 PMID:11309367 PMID:11772708 PMID:11805248 More... NCBI chr  X:73,070,198...73,129,296
Ensembl chr  X:73,070,198...73,129,296 		JBrowse link
G Med17 mediator complex subunit 17 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:15,171,647...15,194,576
Ensembl chr 9:15,171,647...15,191,227 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17215403 More... NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161 		JBrowse link
G Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly 		CTD
ClinVar		 PMID:25741868 PMID:26005865 PMID:26005868 NCBI chr 4:122,840,643...122,855,844
Ensembl chr 4:122,840,643...122,854,981 		JBrowse link
G Mipep mitochondrial intermediate peptidase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr14:61,022,011...61,142,930
Ensembl chr14:61,022,022...61,142,927 		JBrowse link
G Mir17hg Mir17 host gene (non-protein coding) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21892160 NCBI chr14:115,281,822...115,284,160
Ensembl chr14:115,278,211...115,284,162 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:24608809 PMID:25741868 PMID:28492532 PMID:30076350 PMID:33584783 NCBI chr11:87,744,007...87,754,629
Ensembl chr11:87,744,041...87,754,629 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:65,343,064...65,360,336
Ensembl chr 9:65,343,064...65,360,336 		JBrowse link
G Nacc1 nucleus accumbens associated 1, BEN and BTB (POZ) domain containing ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:85,397,106...85,414,528
Ensembl chr 8:85,397,108...85,414,531 		JBrowse link
G Nat8l N-acetyltransferase 8-like ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 5:34,153,328...34,163,260
Ensembl chr 5:34,153,328...34,163,260 		JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 More... NCBI chr 4:15,955,388...15,992,589
Ensembl chr 4:15,957,925...15,992,589 		JBrowse link
G Nepro nucleolus and neural progenitor protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr16:44,544,645...44,559,994
Ensembl chr16:44,544,664...44,557,647 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:30308447 NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		JBrowse link
G Npas4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr19:5,034,381...5,053,467
Ensembl chr19:5,034,383...5,040,344 		JBrowse link
G Nsd1 nuclear receptor-binding SET-domain protein 1 ISO associated with Growth Disorders;DNA:duplications:multiple (human)
ClinVar Annotator: match by term: Microcephaly 		ClinVar
RGD		 PMID:25741868 PMID:23599694 RGD:9590157 NCBI chr13:55,357,595...55,466,138
Ensembl chr13:55,357,595...55,466,138 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 5:33,974,286...34,055,310
Ensembl chr 5:33,978,069...34,055,319 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr19:46,873,829...47,003,613
Ensembl chr19:46,871,756...47,003,592 		JBrowse link
G Nup188 nucleoporin 188 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:32275884 NCBI chr 2:30,176,419...30,234,278
Ensembl chr 2:30,176,409...30,234,278 		JBrowse link
G Nup214 nucleoporin 214 ISO ClinVar Annotator: match by term: Progressive microcephaly ClinVar PMID:25741868 PMID:31178128 NCBI chr 2:31,864,446...31,943,204
Ensembl chr 2:31,864,448...31,943,987 		JBrowse link
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar PMID:24824130 PMID:25741868 NCBI chr10:52,293,643...52,316,288
Ensembl chr10:52,293,643...52,316,279 		JBrowse link
G Orc1 origin recognition complex, subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358633 NCBI chr 4:108,436,651...108,472,030
Ensembl chr 4:108,436,620...108,472,030 		JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:19965921 PMID:25741868 PMID:28492532 NCBI chr14:48,894,238...48,905,101
Ensembl chr14:48,895,134...48,911,276 		JBrowse link
G Pak3 p21 (RAC1) activated kinase 3 ISO ClinVar Annotator: match by term: Microcephaly ClinVar NCBI chr  X:142,301,370...142,580,792
Ensembl chr  X:142,301,587...142,580,792 		JBrowse link
G Pclo piccolo (presynaptic cytomatrix protein) ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:14,564,924...14,913,479
Ensembl chr 5:14,564,932...14,913,473 		JBrowse link
G Pcnt pericentrin (kendrin) ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr10:76,187,098...76,279,988
Ensembl chr10:76,187,097...76,278,620 		JBrowse link
G Pdgfrb platelet derived growth factor receptor, beta polypeptide ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar NCBI chr  X:72,836,963...72,868,649
Ensembl chr  X:72,836,965...72,868,575 		JBrowse link
G Pex16 peroxisomal biogenesis factor 16 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:92,205,043...92,211,563
Ensembl chr 2:92,205,021...92,211,562 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:32901917 PMID:33584783 PMID:35346031 NCBI chr 6:124,373,774...124,392,878
Ensembl chr 6:124,373,775...124,392,026 		JBrowse link
G Plekhg2 pleckstrin homology domain containing, family G (with RhoGef domain) member 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:28,059,028...28,072,818
Ensembl chr 7:28,059,029...28,072,024 		JBrowse link
G Plk4 polo like kinase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly 		CTD
ClinVar		 PMID:25344692 PMID:25741868 NCBI chr 3:40,754,463...40,771,318
Ensembl chr 3:40,754,454...40,771,318 		JBrowse link
G Pnkp polynucleotide kinase 3'- phosphatase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20118933 NCBI chr 7:44,505,903...44,514,761
Ensembl chr 7:44,506,563...44,512,416 		JBrowse link
G Poc1a POC1 centriolar protein A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 9:106,156,177...106,227,721
Ensembl chr 9:106,158,260...106,227,720 		JBrowse link
G Ppil1 peptidylprolyl isomerase (cyclophilin)-like 1 IAGP MouseDO NCBI chr17:29,469,809...29,482,945
Ensembl chr17:29,469,777...29,483,160 		JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14634649 PMID:15024694 PMID:16740914 NCBI chr  X:7,760,759...7,765,469
Ensembl chr  X:7,760,758...7,765,508 		JBrowse link
G Prdm16 PR domain containing 16 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:154,400,579...154,721,851
Ensembl chr 4:154,400,582...154,721,330 		JBrowse link
G Prkdc protein kinase, DNA activated, catalytic polypeptide ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr16:15,455,698...15,660,103
Ensembl chr16:15,455,730...15,660,099 		JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:32077105 PMID:34089226 NCBI chr19:15,882,487...15,902,423
Ensembl chr19:15,882,042...15,924,701 		JBrowse link
G Ptdss1 phosphatidylserine synthase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr13:67,080,894...67,146,465
Ensembl chr13:67,080,894...67,146,465 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:11704759 PMID:11992261 PMID:12717436 PMID:14644997 PMID:15928039 More... NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:21739576 PMID:24913064 PMID:25741868 PMID:28492532 NCBI chr11:120,527,591...120,534,602
Ensembl chr11:120,526,538...120,534,595 		JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase family, member 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:180,731,839...180,735,653
Ensembl chr 1:180,731,858...180,735,653 		JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:108,385,204...108,393,140
Ensembl chr 9:108,384,905...108,393,140 		JBrowse link
G Rab11a RAB11A, member RAS oncogene family ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:25741868 NCBI chr 9:64,622,582...64,645,038
Ensembl chr 9:64,622,581...64,645,040 		JBrowse link
G Rab3gap2 RAB3 GTPase activating protein subunit 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:184,936,287...185,018,953
Ensembl chr 1:184,936,314...185,018,956 		JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:32566746 PMID:33309985 PMID:37253112 NCBI chr11:87,267,471...87,295,780
Ensembl chr11:87,267,471...87,295,780 		JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 2:101,468,597...101,479,877
Ensembl chr 2:101,468,627...101,479,846 		JBrowse link
G Rbbp8 retinoblastoma binding protein 8, endonuclease ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr18:11,766,333...11,876,264
Ensembl chr18:11,766,333...11,878,278 		JBrowse link
G Rbm28 RNA binding motif protein 28 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 6:29,123,572...29,164,975
Ensembl chr 6:29,123,575...29,165,005 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:30217742 PMID:32164334 NCBI chr 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679 		JBrowse link
G Rfx7 regulatory factor X, 7 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 9:72,439,346...72,530,231
Ensembl chr 9:72,439,522...72,530,111 		JBrowse link
G Rpgrip1 retinitis pigmentosa GTPase regulator interacting protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr14:52,341,698...52,398,796
Ensembl chr14:52,348,161...52,401,003 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890 		JBrowse link
G Rreb1 ras responsive element binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr13:37,962,362...38,135,981
Ensembl chr13:37,962,376...38,135,981 		JBrowse link
G Rttn rotatin ISO ClinVar Annotator: match by term: Congenital microcephaly | ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:26608784 PMID:26846091 PMID:28492532 NCBI chr18:88,989,860...89,149,140
Ensembl chr18:88,989,914...89,149,140 		JBrowse link
G Sall1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:89,753,867...89,770,790
Ensembl chr 8:89,753,863...89,770,790 		JBrowse link
G Samd9l sterile alpha motif domain containing 9-like ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:3,372,257...3,399,458
Ensembl chr 6:3,372,257...3,399,572 		JBrowse link
G Sbds SBDS ribosome maturation factor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... NCBI chr 5:130,274,573...130,284,371
Ensembl chr 5:130,274,572...130,284,371 		JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:23749797 PMID:25741868 PMID:28492532 NCBI chr15:89,171,138...89,199,514
Ensembl chr15:89,172,439...89,199,514 		JBrowse link
G Scarf2 scavenger receptor class F, member 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr16:17,615,146...17,626,158
Ensembl chr16:17,615,146...17,626,157 		JBrowse link
G Scn4a sodium channel, voltage-gated, type IV, alpha ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr11:106,208,374...106,256,385
Ensembl chr11:106,209,418...106,244,114 		JBrowse link
G Scrib scribbled planar cell polarity ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr15:75,919,011...75,941,633
Ensembl chr15:75,919,007...75,941,633 		JBrowse link
G Sdhd succinate dehydrogenase complex, subunit D, integral membrane protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:50,507,640...50,515,149
Ensembl chr 9:50,507,657...50,515,112 		JBrowse link
G Sec24c SEC24 homolog C, COPII coat complex component ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr14:20,722,709...20,744,920
Ensembl chr14:20,724,376...20,744,920 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:113,054,326...113,130,393
Ensembl chr 6:113,054,326...113,130,396 		JBrowse link
G Sim1 single-minded family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:50,770,794...50,865,252
Ensembl chr10:50,770,850...50,865,248 		JBrowse link
G Sin3a transcriptional regulator, SIN3A (yeast) ISO CTD Direct Evidence: marker/mechanism CTD PMID:27399968 NCBI chr 9:56,979,271...57,035,652
Ensembl chr 9:56,979,324...57,035,650 		JBrowse link
G Slc12a5 solute carrier family 12, member 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:164,802,766...164,841,651
Ensembl chr 2:164,802,722...164,841,651 		JBrowse link
G Slc13a5 solute carrier family 13 (sodium-dependent citrate transporter), member 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr11:72,132,816...72,158,092
Ensembl chr11:72,132,815...72,158,048 		JBrowse link
G Slc1a4 solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:20,252,180...20,282,713
Ensembl chr11:20,252,180...20,282,713 		JBrowse link
G Slc25a19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 ISO Microcephaly, Amish type, OMIM:607196;DNA:point mutation:exon:G177A RGD PMID:12185364 RGD:1624242 NCBI chr11:115,504,991...115,519,122
Ensembl chr11:115,505,004...115,519,121 		JBrowse link
G Slc2a1 solute carrier family 2 (facilitated glucose transporter), member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly 		CTD
ClinVar		 PMID:9462754 PMID:10980529 PMID:20129935 PMID:21832227 PMID:25326635 More... NCBI chr 4:118,966,001...118,994,527
Ensembl chr 4:118,965,908...118,995,180 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr16:3,796,969...3,821,708
Ensembl chr16:3,796,969...3,821,634 		JBrowse link
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr19:26,582,578...26,755,721
Ensembl chr19:26,582,450...26,755,722 		JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:21,527,377...21,615,526
Ensembl chr 9:21,527,465...21,615,526 		JBrowse link
G Smarcal1 SNF2 related chromatin remodeling ATPase like 1 ISO ClinVar Annotator: match by term: Congenital microcephaly ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr 1:72,575,593...72,675,949
Ensembl chr 1:72,622,410...72,672,293 		JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:17273969 PMID:19701948 PMID:24124034 PMID:25125236 PMID:25741868 More... NCBI chr  X:150,799,386...150,844,969
Ensembl chr  X:150,799,424...150,845,690 		JBrowse link
G Smo smoothened, frizzled class receptor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364 		JBrowse link
G Spock1 sparc/osteonectin, cwcv and kazal-like domains proteoglycan 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr13:57,569,008...58,056,194
Ensembl chr13:57,569,008...58,056,146 		JBrowse link
G Sptan1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:29,855,572...29,921,463
Ensembl chr 2:29,855,572...29,921,463 		JBrowse link
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr13:53,486,784...53,531,401
Ensembl chr13:53,486,784...53,531,433 		JBrowse link
G Srcap Snf2-related CREBBP activator protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:127,111,155...127,160,391
Ensembl chr 7:127,111,155...127,160,391 		JBrowse link
G Stambp STAM binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23542699 NCBI chr 6:83,520,188...83,552,781
Ensembl chr 6:83,520,193...83,549,711 		JBrowse link
G Stil Scl/Tal1 interrupting locus ISO ClinVar Annotator: match by term: Primary Microcephaly, Recessive ClinVar NCBI chr 4:114,857,287...114,900,404
Ensembl chr 4:114,857,356...114,900,393 		JBrowse link
G Stt3a STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:36,640,640...36,678,918
Ensembl chr 9:36,640,640...36,678,975 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 2:32,677,619...32,737,249
Ensembl chr 2:32,677,614...32,737,257 		JBrowse link
G Svbp small vasohibin binding protein ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:30607023 PMID:31363758 NCBI chr 4:119,052,507...119,058,495
Ensembl chr 4:119,052,503...119,058,495 		JBrowse link
G Taf2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr15:54,878,525...54,935,580
Ensembl chr15:54,878,527...54,935,548 		JBrowse link
G Taf8 TATA-box binding protein associated factor 8 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:29648665 PMID:35759269 NCBI chr17:47,794,289...47,813,216
Ensembl chr17:47,794,289...47,813,217 		JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr10:55,890,389...56,106,495
Ensembl chr10:55,890,389...56,104,785 		JBrowse link
G Tbcd tubulin-specific chaperone d ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666370 PMID:27666374 NCBI chr11:121,342,817...121,507,996
Ensembl chr11:121,342,775...121,507,990 		JBrowse link
G Tbl2 transducin (beta)-like 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 5:135,178,288...135,192,727
Ensembl chr 5:135,178,511...135,194,614 		JBrowse link
G Tbx2 T-box 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr11:85,723,441...85,732,774
Ensembl chr11:85,723,377...85,732,774 		JBrowse link
G Tcf4 transcription factor 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly 		CTD
ClinVar		 PMID:18728071 PMID:21671391 PMID:22045651 PMID:22460224 PMID:25741868 More... NCBI chr18:69,476,500...69,821,038
Ensembl chr18:69,476,427...69,822,150 		JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr18:60,946,827...60,982,055
Ensembl chr18:60,946,827...60,982,043 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:124,736,812...124,765,803
Ensembl chr 5:124,736,812...124,765,803 		JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr12:110,855,681...110,938,828
Ensembl chr12:110,855,698...110,938,828 		JBrowse link
G Telo2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr17:25,318,543...25,334,951
Ensembl chr17:25,318,544...25,334,941 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:30426156 NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962 		JBrowse link
G Tfap2c transcription factor AP-2, gamma ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 2:172,387,599...172,400,542
Ensembl chr 2:172,391,513...172,400,542 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,363...12,090,020 		JBrowse link
G Traip TRAF-interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26595769 NCBI chr 9:107,828,158...107,849,469
Ensembl chr 9:107,827,335...107,849,469 		JBrowse link
G Trio triple functional domain (PTPRF interacting) ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:32581362 NCBI chr15:27,730,735...28,025,954
Ensembl chr15:27,730,737...28,025,934 		JBrowse link
G Trps1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr15:50,518,149...50,754,027
Ensembl chr15:50,518,148...50,753,859 		JBrowse link
G Tsen2 tRNA splicing endonuclease subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chr 6:115,521,652...115,555,297
Ensembl chr 6:115,521,625...115,555,589 		JBrowse link
G Tsen34 tRNA splicing endonuclease subunit 34 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chr 7:3,696,300...3,704,033
Ensembl chr 7:3,695,862...3,704,023 		JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly 		CTD
ClinVar		 PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 More... NCBI chr11:115,704,563...115,713,928
Ensembl chr11:115,705,550...115,713,920 		JBrowse link
G Tti2 TELO2 interacting protein 2 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 8:31,640,344...31,654,731
Ensembl chr 8:31,640,343...31,654,730 		JBrowse link
G Tuba1a tubulin, alpha 1A ISO associated with Lissencephaly;DNA:missense mutations:cds: RGD PMID:18728072 RGD:11069114 NCBI chr15:98,847,728...98,851,382
Ensembl chr15:98,847,718...98,851,584 		JBrowse link
G Tuba8 tubulin, alpha 8 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:31481326 NCBI chr 6:121,187,666...121,209,304
Ensembl chr 6:121,187,655...121,203,813 		JBrowse link
G Tubb4a tubulin, beta 4A class IVA ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25085639 PMID:25326637 PMID:25741868 PMID:28492532 PMID:28973395 More... NCBI chr17:57,387,061...57,394,600
Ensembl chr17:57,387,066...57,394,782 		JBrowse link
G Tubb5 tubulin, beta 5 class I IAGP OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 MouseDO NCBI chr17:36,144,812...36,149,193
Ensembl chr17:36,144,813...36,149,198 		JBrowse link
G Tubg1 tubulin, gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23603762 NCBI chr11:101,010,725...101,017,249
Ensembl chr11:101,010,764...101,017,245 		JBrowse link
G Tubgcp5 tubulin, gamma complex component 5 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 7:55,443,873...55,481,207
Ensembl chr 7:55,443,902...55,481,425 		JBrowse link
G Tubgcp6 tubulin, gamma complex component 6 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr15:88,983,300...89,007,411
Ensembl chr15:88,982,560...89,007,315 		JBrowse link
G Ubr1 ubiquitin protein ligase E3 component n-recognin 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:120,690,753...120,801,246
Ensembl chr 2:120,690,750...120,801,196 		JBrowse link
G Unc80 unc-80, NALCN activator ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 1:66,507,093...66,738,309
Ensembl chr 1:66,507,526...66,738,307 		JBrowse link
G Vars1 valyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:30275004 NCBI chr17:35,219,895...35,235,304
Ensembl chr17:35,219,963...35,235,298 		JBrowse link
G Vldlr very low density lipoprotein receptor ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr19:27,190,070...27,231,631
Ensembl chr19:27,193,884...27,231,631 		JBrowse link
G Vps13b vacuolar protein sorting 13B ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:25741868 PMID:28492532 More... NCBI chr15:35,371,264...35,931,375
Ensembl chr15:35,371,306...35,931,375 		JBrowse link
G Vps33b vacuolar protein sorting 33B ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:79,919,369...79,941,323
Ensembl chr 7:79,919,397...79,941,502 		JBrowse link
G Vps53 VPS53 GARP complex subunit ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 NCBI chr11:75,937,052...76,070,464
Ensembl chr11:75,937,052...76,070,473 		JBrowse link
G Wdfy3 WD repeat and FYVE domain containing 3 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 5:101,980,819...102,220,081
Ensembl chr 5:101,980,822...102,217,787 		JBrowse link
G Wdr11 WD repeat domain 11 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:34413497 NCBI chr 7:129,193,373...129,237,462
Ensembl chr 7:129,193,587...129,237,462 		JBrowse link
G Wdr62 WD repeat domain 62 IMP
ISO 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive 		CTD
ClinVar
RGD		 PMID:20890278 PMID:20890279 PMID:24875059 RGD:11541053 NCBI chr 7:29,939,563...29,980,243
Ensembl chr 7:29,939,563...29,979,844 		JBrowse link
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:32581362 NCBI chr11:75,331,769...75,345,544
Ensembl chr11:75,331,770...75,345,543 		JBrowse link
G Xirp1 xin actin-binding repeat containing 1 ISO ClinVar Annotator: match by term: Classical primary microcephaly ClinVar PMID:25558065 PMID:25741868 NCBI chr 9:119,842,821...119,852,660
Ensembl chr 9:119,842,821...119,852,664 		JBrowse link
G Yme1l1 YME1-like 1 (S. cerevisiae) ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 NCBI chr 2:23,046,517...23,089,272
Ensembl chr 2:23,046,381...23,089,272 		JBrowse link
G Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide ISO ClinVar Annotator: match by term: Microcephaly ClinVar PMID:25741868 PMID:28492532 PMID:31926053 PMID:33590706 PMID:34580403 More... NCBI chr 5:135,937,233...135,963,495
Ensembl chr 5:135,937,263...135,963,470 		JBrowse link
G Zc4h2 zinc finger, C4H2 domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:26056227 NCBI chr  X:94,682,793...94,702,115
Ensembl chr  X:94,682,799...94,702,115 		JBrowse link
G Zfp668 zinc finger protein 668 ISO ClinVar Annotator: match by term: Progressive microcephaly ClinVar PMID:26633546 PMID:34313816 NCBI chr 7:127,460,197...127,476,008
Ensembl chr 7:127,462,219...127,476,000 		JBrowse link
Microcephaly and Chorioretinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubgcp6 tubulin, gamma complex component 6 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy with or without intellectual disability ClinVar PMID:25344692 PMID:25741868 PMID:28492532 NCBI chr15:88,983,300...89,007,411
Ensembl chr15:88,982,560...89,007,315 		JBrowse link
microcephaly and chorioretinopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 1 ClinVar PMID:25741868 NCBI chr19:37,364,830...37,410,311
Ensembl chr19:37,364,851...37,410,307 		JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 1 ClinVar PMID:25741868 PMID:28492532 PMID:28805828 PMID:36063408 NCBI chr14:51,152,831...51,162,350
Ensembl chr14:51,143,935...51,162,350 		JBrowse link
G Plk4 polo like kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:40,754,463...40,771,318
Ensembl chr 3:40,754,454...40,771,318 		JBrowse link
G Tubgcp4 tubulin, gamma complex component 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:121,001,124...121,029,251
Ensembl chr 2:121,001,135...121,029,251 		JBrowse link
G Tubgcp6 tubulin, gamma complex component 6 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 1 | ClinVar Annotator: match by term: TUBGCP6-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:5936364 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22279524 More... NCBI chr15:88,983,300...89,007,411
Ensembl chr15:88,982,560...89,007,315 		JBrowse link
microcephaly and chorioretinopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plk4 polo like kinase 4 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 2 | ClinVar Annotator: match by term: PLK4-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25320347 PMID:25344692 PMID:25741868 More... NCBI chr 3:40,754,463...40,771,318
Ensembl chr 3:40,754,454...40,771,318 		JBrowse link
microcephaly and chorioretinopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubgcp4 tubulin, gamma complex component 4 ISO ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 3 | ClinVar Annotator: match by term: TUBGCP4-related condition OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:25817018 PMID:28492532 NCBI chr 2:121,001,124...121,029,251
Ensembl chr 2:121,001,135...121,029,251 		JBrowse link
Microcephaly with Mental Retardation and Digital Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbbp8 retinoblastoma binding protein 8, endonuclease ISO ClinVar Annotator: match by term: Jawad syndrome | ClinVar Annotator: match by term: RBBP8-related disorder
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:18071751 PMID:18414213 PMID:21998596 More... NCBI chr18:11,766,333...11,876,264
Ensembl chr18:11,766,333...11,878,278 		JBrowse link
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: KIF11-related condition | ClinVar Annotator: match by term: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Microcephaly lymphedema chorioretinal dysplasia | ClinVar Annotator: match by term: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation OMIM
ClinVar		 PMID:9536098 PMID:15930898 PMID:16199547 PMID:17576681 PMID:22284827 More... NCBI chr19:37,364,830...37,410,311
Ensembl chr19:37,364,851...37,410,307 		JBrowse link
Microcephaly with Simplified Gyral Pattern term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh4 cadherin 4 ISO ClinVar Annotator: match by term: Simplified gyral pattern ClinVar PMID:29706646 NCBI chr 2:179,084,228...179,541,166
Ensembl chr 2:179,084,224...179,541,166 		JBrowse link
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcna4 potassium voltage-gated channel, shaker-related subfamily, member 4 ISO ClinVar Annotator: match by term: Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum OMIM
ClinVar		 PMID:23181898 PMID:25741868 PMID:27582084 NCBI chr 2:107,120,934...107,157,149
Ensembl chr 2:107,120,984...107,128,847 		JBrowse link
Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msmo1 methylsterol monoxygenase 1 ISO ClinVar Annotator: match by term: MSMO1-related condition | ClinVar Annotator: match by term: Microcephaly, congenital cataract, and psoriasiform dermatitis OMIM
ClinVar		 PMID:21285510 PMID:24144731 PMID:25741868 PMID:28492532 NCBI chr 8:65,171,157...65,186,822
Ensembl chr 8:65,171,173...65,186,826 		JBrowse link
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cars1 cysteinyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly, developmental delay, and brittle hair syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30824121 NCBI chr 7:143,110,967...143,153,827
Ensembl chr 7:143,110,967...143,153,827 		JBrowse link
Microcephaly, Epilepsy, and Diabetes Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ier3ip1 immediate early response 3 interacting protein 1 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome ClinVar PMID:9536098 PMID:16972080 PMID:17576681 PMID:21835305 PMID:22991235 More... NCBI chr18:77,017,723...77,029,310
Ensembl chr18:77,017,713...77,029,308 		JBrowse link
Microcephaly, Epilepsy, and Diabetes Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ier3ip1 immediate early response 3 interacting protein 1 ISO ClinVar Annotator: match by term: IER3IP1-related condition | ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome 1 OMIM
ClinVar		 PMID:16972080 PMID:21835305 PMID:22991235 PMID:23771172 PMID:24138066 More... NCBI chr18:77,017,723...77,029,310
Ensembl chr18:77,017,713...77,029,308 		JBrowse link
Microcephaly, Epilepsy, and Diabetes Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Yipf5 Yip1 domain family, member 5 ISO ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:33164986 NCBI chr18:40,337,918...40,352,452
Ensembl chr18:40,336,949...40,352,482 		JBrowse link
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: CTU2-related condition | ClinVar Annotator: match by term: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25081361 PMID:25741868 PMID:26633546 More... NCBI chr 8:123,202,882...123,209,831
Ensembl chr 8:123,202,882...123,210,877 		JBrowse link
microcephaly, growth deficiency, seizures, and brain malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Microcephaly, growth deficiency, seizures, and brain malformations | ClinVar Annotator: match by term: WDR4-related condition OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:26416026 PMID:28492532 PMID:29597095 More... NCBI chr17:31,713,296...31,738,946
Ensembl chr17:31,713,296...31,738,954 		JBrowse link
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Top3a topoisomerase (DNA) III alpha ISO ClinVar Annotator: match by term: Microcephaly, growth restriction, and increased sister chromatid exchange 2 | ClinVar Annotator: match by term: TOP3A-related condition OMIM
ClinVar		 PMID:25741868 PMID:26689913 PMID:28492532 PMID:30057030 PMID:37013609 NCBI chr11:60,629,014...60,668,099
Ensembl chr11:60,630,884...60,668,191 		JBrowse link
microcephaly, seizures, and developmental delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nusap1 nucleolar and spindle associated protein 1 ISO ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay ClinVar PMID:25741868 NCBI chr 2:119,449,205...119,480,646
Ensembl chr 2:119,448,779...119,481,725 		JBrowse link
G Pnkp polynucleotide kinase 3'- phosphatase ISO ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay OMIM
ClinVar		 PMID:9536098 PMID:10446192 PMID:11112660 PMID:11704758 PMID:15136689 More... NCBI chr 7:44,505,903...44,514,761
Ensembl chr 7:44,506,563...44,512,416 		JBrowse link
Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trmt10a tRNA methyltransferase 10A ISO ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 1 | ClinVar Annotator: match by term: TRMT10A-related condition OMIM
ClinVar		 PMID:24204302 PMID:25053765 PMID:25741868 PMID:26535115 PMID:28492532 More... NCBI chr 3:137,849,214...137,865,582
Ensembl chr 3:137,849,209...137,865,582 		JBrowse link
Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp1r15b protein phosphatase 1, regulatory subunit 15B ISO ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 2 | ClinVar Annotator: match by term: PPP1R15B-related condition OMIM
ClinVar		 PMID:25741868 PMID:26159176 PMID:26307080 PMID:28492532 NCBI chr 1:133,058,904...133,067,538
Ensembl chr 1:133,058,881...133,067,521 		JBrowse link
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rttn rotatin ISO ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures | ClinVar Annotator: match by term: RTTN-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22939636 More... NCBI chr18:88,989,860...89,149,140
Ensembl chr18:88,989,914...89,149,140 		JBrowse link
Microcephaly-Capillary Malformation Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stambp STAM binding protein ISO ClinVar Annotator: match by term: Microcephaly-capillary malformation syndrome | ClinVar Annotator: match by term: STAMBP-related condition OMIM
ClinVar		 PMID:18414213 PMID:21271646 PMID:21815250 PMID:23542699 PMID:25326635 More... NCBI chr 6:83,520,188...83,552,781
Ensembl chr 6:83,520,193...83,549,711 		JBrowse link
microcephaly-micromelia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Donson downstream neighbor of SON ISO ClinVar Annotator: match by term: Microcephaly-micromelia syndrome OMIM
ClinVar		 PMID:25741868 PMID:27040692 PMID:28191891 PMID:28331220 PMID:28492532 More... NCBI chr16:91,463,744...91,485,702
Ensembl chr16:91,473,696...91,485,658 		JBrowse link
Microhydranencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nde1 nudE neurodevelopment protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYDRANENCEPHALY AND MICROCEPHALY | ClinVar Annotator: match by term: Hydranencephaly and microcephaly 		OMIM
CTD
ClinVar		 PMID:10762554 PMID:18414213 PMID:22526350 PMID:25326635 PMID:25332407 More... NCBI chr16:13,981,139...14,010,792
Ensembl chr16:13,981,139...14,010,792 		JBrowse link
mosaic variegated aneuploidy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bub1b BUB1B, mitotic checkpoint serine/threonine kinase ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome | ClinVar Annotator: match by term: Warburton-Anyane-Yeboa syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:15475955 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 2:118,428,684...118,472,073
Ensembl chr 2:118,428,692...118,472,072 		JBrowse link
G Cep57 centrosomal protein 57 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:21552266 PMID:28553959 NCBI chr 9:13,717,979...13,738,698
Ensembl chr 9:13,719,088...13,738,403 		JBrowse link
G Trip13 thyroid hormone receptor interactor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553959 NCBI chr13:74,060,577...74,085,855
Ensembl chr13:74,059,466...74,085,903 		JBrowse link
mosaic variegated aneuploidy syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bub1b BUB1B, mitotic checkpoint serine/threonine kinase ISO
IAGP 		ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1
OMIM:257300 		OMIM
ClinVar
MouseDO		 PMID:9521327 PMID:9536098 PMID:9916837 PMID:11169558 PMID:15475955 More... NCBI chr 2:118,428,684...118,472,073
Ensembl chr 2:118,428,692...118,472,072 		JBrowse link
G Cep57 centrosomal protein 57 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:12116237 PMID:21552266 PMID:24259107 PMID:25741868 PMID:28492532 More... NCBI chr 9:13,717,979...13,738,698
Ensembl chr 9:13,719,088...13,738,403 		JBrowse link
G Mad1l1 MAD1 mitotic arrest deficient 1-like 1 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:25741868 NCBI chr 5:139,994,444...140,307,346
Ensembl chr 5:139,994,444...140,307,307 		JBrowse link
mosaic variegated aneuploidy syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep57 centrosomal protein 57 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 2 OMIM
ClinVar		 PMID:9536098 PMID:12116237 PMID:16199547 PMID:17576681 PMID:21552266 More... NCBI chr 9:13,717,979...13,738,698
Ensembl chr 9:13,719,088...13,738,403 		JBrowse link
mosaic variegated aneuploidy syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip13 thyroid hormone receptor interactor 13 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 3 | ClinVar Annotator: match by term: TRIP13-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28553959 More... NCBI chr13:74,060,577...74,085,855
Ensembl chr13:74,059,466...74,085,903 		JBrowse link
mosaic variegated aneuploidy syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 4 OMIM
ClinVar		 PMID:34009673 NCBI chr 9:44,321,456...44,329,390
Ensembl chr 9:44,321,456...44,329,866 		JBrowse link
Mosaic Variegated Aneuploidy Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slf2 SMC5-SMC6 complex localization factor 2 ISO ClinVar Annotator: match by term: Atelis syndrome 1 OMIM
ClinVar		 PMID:36333305 NCBI chr19:44,906,948...44,972,225
Ensembl chr19:44,919,558...44,972,225 		JBrowse link
Mosaic Variegated Aneuploidy Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smc5 structural maintenance of chromosomes 5 ISO ClinVar Annotator: match by term: Atelis syndrome 2 OMIM
ClinVar		 PMID:36333305 NCBI chr19:23,183,817...23,251,286
Ensembl chr19:23,183,815...23,251,261 		JBrowse link
mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mad1l1 MAD1 mitotic arrest deficient 1-like 1 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition OMIM
ClinVar		 PMID:25741868 PMID:36322655 NCBI chr 5:139,994,444...140,307,346
Ensembl chr 5:139,994,444...140,307,307 		JBrowse link
Mowat-Wilson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp activity-dependent neuroprotective protein ISO ClinVar Annotator: match by term: Hirschsprung disease mental retardation syndrome ClinVar PMID:25741868 NCBI chr 2:168,022,885...168,049,032
Ensembl chr 2:168,022,906...168,049,032 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO
IAGP 		ClinVar Annotator: match by term: Mowat-Wilson syndrome | ClinVar Annotator: match by term: ZEB2-related condition
OMIM:235730
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:2030158 PMID:9536098 PMID:9719364 PMID:11279515 PMID:11448942 More... NCBI chr 2:44,873,523...45,007,378
Ensembl chr 2:44,873,644...45,007,407 		JBrowse link
Nabais Sa-de Vries Syndrome, Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spop speckle-type BTB/POZ protein ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and dysmorphic facies | ClinVar Annotator: match by term: SPOP-related condition | ClinVar Annotator: match by term: SPOP-related neurodevelopmental condition OMIM
ClinVar		 PMID:25741868 PMID:32109420 NCBI chr11:95,304,909...95,384,236
Ensembl chr11:95,304,906...95,384,232 		JBrowse link
Neu-Laxova syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phgdh 3-phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: Neu-Laxova syndrome 1 | ClinVar Annotator: match by term: PHGDH-related disorder
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chr 3:98,220,487...98,247,285
Ensembl chr 3:98,220,486...98,247,306 		JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:15,882,487...15,902,423
Ensembl chr19:15,882,042...15,924,701 		JBrowse link
NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dtymk deoxythymidylate kinase ISO ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with progressive microcephaly OMIM
ClinVar		 PMID:25741868 PMID:31271740 PMID:34918187 PMID:34926941 NCBI chr 1:93,720,298...93,730,246
Ensembl chr 1:93,720,298...93,729,656 		JBrowse link
Neurodevelopmental disorder with ataxia and brain abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpmt1 protein tyrosine phosphatase, mitochondrial 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH ATAXIA AND BRAIN ABNORMALITIES ClinVar
OMIM		 PMID:39279645 NCBI chr 2:90,741,057...90,748,395
Ensembl chr 2:90,739,060...90,748,389 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Svbp small vasohibin binding protein ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly OMIM
ClinVar		 PMID:25741868 PMID:30607023 PMID:31363758 PMID:39412222 NCBI chr 4:119,052,507...119,058,495
Ensembl chr 4:119,052,503...119,058,495 		JBrowse link
Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gtf3c3 general transcription factor IIIC, polypeptide 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, BRAIN ANOMALIES, AND SEIZURES ClinVar
OMIM		 PMID:25741868 PMID:28097321 PMID:28940097 PMID:30552426 PMID:39636576 More... NCBI chr 1:54,435,036...54,478,185
Ensembl chr 1:54,435,163...54,478,130 		JBrowse link
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trappc4 trafficking protein particle complex 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy OMIM
ClinVar		 PMID:25741868 PMID:31794024 PMID:32125366 PMID:32901138 PMID:34878169 NCBI chr 9:44,315,057...44,318,629
Ensembl chr 9:44,314,995...44,318,897 		JBrowse link
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures OMIM
ClinVar		 PMID:25741868 PMID:32220291 PMID:32719099 NCBI chr10:77,126,561...77,254,125
Ensembl chr10:77,126,560...77,254,104 		JBrowse link
G Cpsf3 cleavage and polyadenylation specificity factor 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, microcephaly, and seizures ClinVar PMID:35121750 NCBI chr12:21,336,298...21,365,057
Ensembl chr12:21,335,392...21,365,057 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tti1 TELO2 interacting protein 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and movement abnormalities OMIM
ClinVar		 PMID:25741868 PMID:26539891 PMID:36724785 NCBI chr 2:157,823,723...157,870,382
Ensembl chr 2:157,823,723...157,870,353 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wars1 tryptophanyl-tRNA synthetase1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities | ClinVar Annotator: match by term: WARS1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:34585293 PMID:35790048 PMID:35815345 NCBI chr12:108,825,956...108,860,095
Ensembl chr12:108,825,956...108,860,100 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync1i2 dynein cytoplasmic 1 intermediate chain 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and structural brain anomalies OMIM
ClinVar		 PMID:25741868 PMID:31079899 NCBI chr 2:71,041,999...71,093,647
Ensembl chr 2:71,042,050...71,093,647 		JBrowse link
neurodevelopmental disorder with microcephaly, absent speech, and hypotonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flvcr1 feline leukemia virus subgroup C cellular receptor 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:39306721 NCBI chr 1:190,738,029...190,758,387
Ensembl chr 1:190,738,044...190,758,355 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg1 adhesion G protein-coupled receptor G1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 8:95,701,321...95,740,836
Ensembl chr 8:95,701,379...95,740,845 		JBrowse link
G Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25657822 PMID:25741868 PMID:27770071 PMID:28492532 PMID:34837432 NCBI chr  X:159,567,241...159,777,673
Ensembl chr  X:159,554,919...159,777,700 		JBrowse link
G Col4a1 collagen, type IV, alpha 1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25741868 NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861 		JBrowse link
G Dcx doublecortin ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:11175293 PMID:11468322 PMID:18414213 PMID:18685874 PMID:23365099 More... NCBI chr  X:142,638,838...142,716,392
Ensembl chr  X:142,638,838...142,716,307 		JBrowse link
G Ddx3x DEAD box helicase 3, X-linked ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr  X:13,147,261...13,160,222
Ensembl chr  X:13,147,209...13,160,291 		JBrowse link
G Depdc5 DEP domain containing 5 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 5:33,020,996...33,151,581
Ensembl chr 5:33,021,045...33,151,580 		JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr12:110,567,829...110,633,378
Ensembl chr12:110,567,886...110,633,379 		JBrowse link
G Flna filamin, alpha ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
G Foxg1 forkhead box G1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:19806373 PMID:21441262 PMID:22190898 PMID:23757202 PMID:24836831 More... NCBI chr12:49,429,666...49,433,650
Ensembl chr12:49,429,443...49,433,644 		JBrowse link
G Grin2a glutamate receptor, ionotropic, NMDA2A (epsilon 1) ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:7574460 PMID:16199547 PMID:23933818 PMID:23933819 PMID:23933820 More... NCBI chr16:9,385,765...9,813,744
Ensembl chr16:9,385,762...9,813,424 		JBrowse link
G Kcnc1 potassium voltage gated channel, Shaw-related subfamily, member 1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:28492532 NCBI chr 7:46,045,643...46,088,130
Ensembl chr 7:46,045,921...46,088,128 		JBrowse link
G Kif2a kinesin family member 2A ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr13:107,095,504...107,158,931
Ensembl chr13:107,095,504...107,158,634 		JBrowse link
G Pafah1b1 platelet-activating factor acetylhydrolase, isoform 1b, subunit 1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:28492532 NCBI chr11:74,564,775...74,615,210
Ensembl chr11:74,564,775...74,615,496 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25741868 PMID:26704558 PMID:28492532 NCBI chr  X:132,483,609...132,589,802
Ensembl chr  X:132,483,609...132,589,736 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:22228622 PMID:22729224 PMID:22949682 PMID:25326635 PMID:25326637 More... NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635 		JBrowse link
G Pnkp polynucleotide kinase 3'- phosphatase ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:11112660 PMID:15749016 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr 7:44,505,903...44,514,761
Ensembl chr 7:44,506,563...44,512,416 		JBrowse link
G Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr  X:36,454,875...36,456,120
Ensembl chr  X:36,454,898...36,456,120 		JBrowse link
G Scn2a sodium channel, voltage-gated, type II, alpha ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr 2:65,451,108...65,597,791
Ensembl chr 2:65,451,115...65,597,791 		JBrowse link
G Scn8a sodium channel, voltage-gated, type VIII, alpha ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25741868 PMID:28492532 PMID:31904124 PMID:35701389 NCBI chr15:100,766,600...100,943,819
Ensembl chr15:100,767,739...100,943,819 		JBrowse link
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr19:26,582,578...26,755,721
Ensembl chr19:26,582,450...26,755,722 		JBrowse link
G Smpd4 sphingomyelin phosphodiesterase 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies OMIM
ClinVar		 PMID:25741868 PMID:31495489 PMID:37880672 NCBI chr16:17,437,218...17,462,694
Ensembl chr16:17,437,218...17,462,692 		JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:25741868 NCBI chr15:98,847,728...98,851,382
Ensembl chr15:98,847,718...98,851,584 		JBrowse link
G Tubb2a tubulin, beta 2A class IIA ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar NCBI chr13:34,258,261...34,261,991
Ensembl chr13:34,258,257...34,261,990 		JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:18414213 PMID:25741868 PMID:26130693 PMID:28492532 PMID:28677066 More... NCBI chr 8:124,138,292...124,148,754
Ensembl chr 8:124,138,163...124,148,754 		JBrowse link
G Wdr62 WD repeat domain 62 ISO ClinVar Annotator: match by term: Abnormality of the cerebrum ClinVar PMID:18414213 PMID:25741868 PMID:28492532 PMID:31589614 PMID:33502066 More... NCBI chr 7:29,939,563...29,980,243
Ensembl chr 7:29,939,563...29,979,844 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sars1 seryl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, ataxia, and seizures | ClinVar Annotator: match by term: SARS1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28236339 PMID:28492532 PMID:34570399 PMID:35790048 More... NCBI chr 3:108,332,180...108,352,575
Ensembl chr 3:108,332,181...108,352,525 		JBrowse link
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gemin4 gem nuclear organelle associated protein 4 ISO ClinVar Annotator: match by term: GEMIN4-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:27878435 PMID:28492532 PMID:30237576 NCBI chr11:76,101,397...76,108,398
Ensembl chr11:76,101,397...76,108,490 		JBrowse link
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dohh deoxyhypusine hydroxylase/monooxygenase ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment OMIM
ClinVar		 PMID:25741868 PMID:35858628 NCBI chr10:81,220,268...81,224,186
Ensembl chr10:81,220,262...81,224,186 		JBrowse link
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmx2 thioredoxin-related transmembrane protein 2 ISO OMIM NCBI chr 2:84,501,655...84,509,172
Ensembl chr 2:84,501,660...84,509,484 		JBrowse link
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mthfs 5, 10-methenyltetrahydrofolate synthetase ISO OMIM NCBI chr 9:89,093,243...89,122,278
Ensembl chr 9:89,092,729...89,259,766 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmb1 proteasome (prosome, macropain) subunit, beta type 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and absent language ClinVar
OMIM		 PMID:32129449 NCBI chr17:15,695,983...15,718,538
Ensembl chr17:15,695,283...15,720,013 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync1i2 dynein cytoplasmic 1 intermediate chain 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies ClinVar PMID:25741868 PMID:31079899 NCBI chr 2:71,041,999...71,093,647
Ensembl chr 2:71,042,050...71,093,647 		JBrowse link
G Prune1 prune exopolyphosphatase ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | ClinVar Annotator: match by term: PRUNE1-related condition OMIM
ClinVar		 PMID:25741868 PMID:26539891 PMID:28211990 PMID:28334956 PMID:28492532 More... NCBI chr 3:95,160,985...95,190,817
Ensembl chr 3:95,160,985...95,189,387 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpsf3 cleavage and polyadenylation specificity factor 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures OMIM
ClinVar		 PMID:25741868 NCBI chr12:21,336,298...21,365,057
Ensembl chr12:21,335,392...21,365,057 		JBrowse link
Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nars1 asparaginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32738225 PMID:32788587 PMID:33001864 More... NCBI chr18:64,632,726...64,649,586
Ensembl chr18:64,632,718...64,649,723 		JBrowse link
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nars1 asparaginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: NARS1-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32738225 PMID:39825153 NCBI chr18:64,632,726...64,649,586
Ensembl chr18:64,632,718...64,649,723 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chka choline kinase alpha ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures ClinVar
OMIM		 PMID:25741868 PMID:35202461 NCBI chr19:3,901,585...3,944,368
Ensembl chr19:3,901,773...3,944,369 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exoc8 exocyst complex component 8 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32103185 NCBI chr 8:125,617,038...125,624,444
Ensembl chr 8:125,619,847...125,624,444 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps50 VPS50 EARP/GARPII complex subunit ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis OMIM
ClinVar		 PMID:25741868 PMID:34037727 NCBI chr 6:3,498,393...3,603,531
Ensembl chr 6:3,498,382...3,603,531 		JBrowse link
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies ClinVar PMID:23545411 PMID:25741868 PMID:27334371 PMID:27389779 PMID:29395664 More... NCBI chr 1:53,846,031...54,234,193
Ensembl chr 1:53,846,035...54,234,327 		JBrowse link
G Plaa phospholipase A2, activating protein ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | ClinVar Annotator: match by term: PLAA-related condition OMIM
ClinVar		 PMID:25741868 PMID:28007986 PMID:28413018 PMID:28492532 PMID:31322726 NCBI chr 4:94,453,371...94,491,410
Ensembl chr 4:94,455,751...94,491,481 		JBrowse link
G Trappc4 trafficking protein particle complex 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies ClinVar PMID:25741868 PMID:31794024 PMID:32125366 PMID:32901138 NCBI chr 9:44,315,057...44,318,629
Ensembl chr 9:44,314,995...44,318,897 		JBrowse link
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppfibp1 PTPRF interacting protein, binding protein 1 (liprin beta 1) ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities ClinVar
OMIM		 PMID:25741868 PMID:35830857 NCBI chr 6:146,788,107...146,933,523
Ensembl chr 6:146,789,985...146,933,523 		JBrowse link
Nijmegen Breakage Syndrome-Like Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rad50 RAD50 double strand break repair protein ISO ClinVar Annotator: match by term: Nijmegen breakage syndrome-like disorder | ClinVar Annotator: match by term: RAD50 DEFICIENCY
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1887849 PMID:9536098 PMID:14684699 PMID:15855896 PMID:16199547 More... NCBI chr11:53,540,346...53,598,146
Ensembl chr11:53,540,346...53,598,146 		JBrowse link
non-syndromic X-linked intellectual disability 93 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brwd3 bromodomain and WD repeat domain containing 3 ISO ClinVar Annotator: match by term: BRWD3-related condition | ClinVar Annotator: match by term: BRWD3-related disorder | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH MACROCEPHALY | ClinVar Annotator: match by term: X-linked intellectual developmental disorder-93
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:7943039 PMID:17668385 PMID:18414213 PMID:23425632 PMID:24462886 More... NCBI chr  X:107,779,451...107,877,965
Ensembl chr  X:107,780,622...107,877,978 		JBrowse link
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubgcp2 tubulin, gamma complex component 2 ISO ClinVar Annotator: match by term: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | ClinVar Annotator: match by term: TUBGCP2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31630790 PMID:32368696 PMID:33458610 NCBI chr 7:139,575,868...139,616,587
Ensembl chr 7:139,575,868...139,616,582 		JBrowse link
PHGDH deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phgdh 3-phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: PHGDH deficiency
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chr 3:98,220,487...98,247,285
Ensembl chr 3:98,220,486...98,247,306 		JBrowse link
Polydactyly-Macrocephaly Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Max Max protein ISO ClinVar Annotator: match by term: Polydactyly-macrocephaly syndrome ClinVar
OMIM		 PMID:25741868 PMID:27903915 PMID:28492532 PMID:38141607 NCBI chr12:76,984,045...77,009,123
Ensembl chr12:76,984,043...77,008,975 		JBrowse link
polyhydramnios, megalencephaly, and symptomatic epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Strada STE20-related kinase adaptor alpha ISO ClinVar Annotator: match by term: PMSE SYNDROME | ClinVar Annotator: match by term: Polyhydramnios, megalencephaly, and symptomatic epilepsy
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17522105 PMID:17576681 PMID:25741868 More... NCBI chr11:106,053,739...106,084,460
Ensembl chr11:106,054,156...106,092,994 		JBrowse link
porencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen, type IV, alpha 1 IAGP
ISO 		OMIM:175780 | OMIM:614483
ClinVar Annotator: match by term: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Porencephaly
CTD Direct Evidence: marker/mechanism 		MouseDO
ClinVar
CTD		 PMID:607595 PMID:2211826 PMID:3691802 PMID:7695699 PMID:8218237 More... NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826 		JBrowse link
G Col4a2 collagen, type IV, alpha 2 ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:c.2399G>A,p.G800E(human) 		CTD
RGD		 PMID:26708157 RGD:13450938 NCBI chr 8:11,362,878...11,499,287
Ensembl chr 8:11,362,805...11,499,287 		JBrowse link
G Kat6b K(lysine) acetyltransferase 6B ISO ClinVar Annotator: match by term: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT ClinVar PMID:25741868 NCBI chr14:21,549,284...21,722,546
Ensembl chr14:21,531,502...21,722,546 		JBrowse link
primary autosomal dominant microcephaly 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdfy3 WD repeat and FYVE domain containing 3 ISO ClinVar Annotator: match by term: Microcephaly 18, primary, autosomal dominant | ClinVar Annotator: match by term: WDFY3-related disorder OMIM
ClinVar		 PMID:25741868 PMID:27008544 PMID:28492532 PMID:31327001 NCBI chr 5:101,980,819...102,220,081
Ensembl chr 5:101,980,822...102,217,787 		JBrowse link
primary autosomal recessive microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspm abnormal spindle microtubule assembly ISO DNA:mutations: :
ClinVar Annotator: match by term: Autosomal recessive primary microcephaly
DNA:insertion:cds:c.4195_4196insA (p.T1399NfsX20)(human) 		ClinVar
RGD		 PMID:15355437 PMID:16199547 PMID:18414213 PMID:19028728 PMID:20301772 More... RGD:13442485, RGD:13442486 NCBI chr 1:139,381,450...139,421,826
Ensembl chr 1:139,382,510...139,421,829 		JBrowse link
G Cit citron ISO ClinVar Annotator: match by term: Autosomal recessive primary microcephaly ClinVar PMID:25741868 PMID:27453579 PMID:27503289 NCBI chr 5:115,983,284...116,147,012
Ensembl chr 5:115,983,337...116,147,006 		JBrowse link
G Cpap centrosome assembly and centriole elongation protein ISO DNA:deletion mutation:cds:c.3243-46delTCAG (human)
ClinVar Annotator: match by term: Autosomal recessive primary microcephaly 		ClinVar
RGD		 PMID:18414213 PMID:24033266 PMID:16900296 RGD:11541115 NCBI chr14:56,764,218...56,812,950
Ensembl chr14:56,764,218...56,812,882 		JBrowse link
G Knl1 kinetochore scaffold 1 ISO DNA:mutation:cds: c.6125 G>A,p. M2041I(human) RGD PMID:22983954 RGD:9685043 NCBI chr 2:118,877,600...118,940,978
Ensembl chr 2:118,877,600...118,935,982 		JBrowse link
G Mcph1 microcephaly, primary autosomal recessive 1 ISO DNA:deletion: :p.R393Sfs*50 (human)
ClinVar Annotator: match by term: Autosomal recessive primary microcephaly
DNA:mutations:exon, intron:multiple 		ClinVar
RGD		 PMID:16199547 PMID:18414213 PMID:20978018 PMID:22855649 PMID:25741868 More... RGD:13204748, RGD:13204750 NCBI chr 8:18,645,132...18,858,110
Ensembl chr 8:18,645,147...18,853,205 		JBrowse link
G Taf13 TATA-box binding protein associated factor 13 ISO ClinVar Annotator: match by term: Autosomal recessive primary microcephaly ClinVar PMID:25741868 NCBI chr 3:108,479,015...108,489,384
Ensembl chr 3:108,479,014...108,490,538 		JBrowse link
G Wdr62 WD repeat domain 62 ISO DNA:duplication:cds: c.2527dupG (p.D843GfsX3)(human)
ClinVar Annotator: match by term: Autosomal recessive primary microcephaly
DNA:missense mutation:cds:c.1198G> A(p.E400K)(human) 		ClinVar
RGD		 PMID:20729831 PMID:21961505 PMID:23065275 PMID:24228726 PMID:25303973 More... RGD:11541051, RGD:11541056 NCBI chr 7:29,939,563...29,980,243
Ensembl chr 7:29,939,563...29,979,844 		JBrowse link
G Zfp335 zinc finger protein 335 ISO ClinVar Annotator: match by term: Autosomal recessive primary microcephaly ClinVar PMID:25741868 NCBI chr 2:164,733,802...164,756,034
Ensembl chr 2:164,733,802...164,753,677 		JBrowse link
primary autosomal recessive microcephaly 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspm abnormal spindle microtubule assembly ISO ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive ClinVar PMID:18414213 PMID:19028728 PMID:19332161 PMID:19770472 PMID:20301772 More... NCBI chr 1:139,381,450...139,421,826
Ensembl chr 1:139,382,510...139,421,829 		JBrowse link
G Cpap centrosome assembly and centriole elongation protein ISO ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive ClinVar PMID:12843329 PMID:15793586 PMID:20301772 PMID:22775483 PMID:25741868 NCBI chr14:56,764,218...56,812,950
Ensembl chr14:56,764,218...56,812,882 		JBrowse link
G Mcph1 microcephaly, primary autosomal recessive 1 ISO ClinVar Annotator: match by term: MCPH1-related condition | ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive
CTD Direct Evidence: marker/mechanism
DNA:insertion:exon:c.427insA (human) 		OMIM
ClinVar
CTD
RGD		 PMID:7693575 PMID:9536098 PMID:11857108 PMID:12046007 PMID:15199523 More... RGD:9589022 NCBI chr 8:18,645,132...18,858,110
Ensembl chr 8:18,645,147...18,853,205 		JBrowse link
primary autosomal recessive microcephaly 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp335 zinc finger protein 335 ISO ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 10 | ClinVar Annotator: match by term: ZNF335-related condition OMIM
ClinVar		 PMID:18414213 PMID:19131338 PMID:23178126 PMID:25741868 PMID:27540107 More... NCBI chr 2:164,733,802...164,756,034
Ensembl chr 2:164,733,802...164,753,677 		JBrowse link
primary autosomal recessive microcephaly 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phc1 polyhomeotic 1 ISO ClinVar Annotator: match by term: Microcephaly 11, primary, autosomal recessive | ClinVar Annotator: match by term: PHC1-related condition OMIM
ClinVar		 PMID:23418308 PMID:25558065 PMID:25741868 NCBI chr 6:122,294,690...122,317,551
Ensembl chr 6:122,294,690...122,317,520 		JBrowse link
primary autosomal recessive microcephaly 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk6 cyclin dependent kinase 6 ISO ClinVar Annotator: match by term: CDK6-related condition | ClinVar Annotator: match by term: Microcephaly 12, primary, autosomal recessive OMIM
ClinVar		 PMID:23918663 PMID:25741868 PMID:28492532 NCBI chr 5:3,391,004...3,581,008
Ensembl chr 5:3,391,485...3,581,008 		JBrowse link
primary autosomal recessive microcephaly 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpe centromere protein E ISO ClinVar Annotator: match by term: CENPE-related condition | ClinVar Annotator: match by term: Microcephaly 13, primary, autosomal recessive OMIM
ClinVar		 PMID:24748105 PMID:25741868 PMID:28492532 NCBI chr 3:134,918,324...134,979,301
Ensembl chr 3:134,918,298...134,979,372 		JBrowse link
primary autosomal recessive microcephaly 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sass6 SAS-6 centriolar assembly protein ISO ClinVar Annotator: match by term: Microcephaly 14, primary, autosomal recessive | ClinVar Annotator: match by term: SASS6-related condition OMIM
ClinVar		 PMID:24951542 PMID:25741868 PMID:28492532 PMID:30639237 NCBI chr 3:116,388,577...116,424,816
Ensembl chr 3:116,388,631...116,424,653 		JBrowse link
primary autosomal recessive microcephaly 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid ISO ClinVar Annotator: match by term: MFSD2A-related condition | ClinVar Annotator: match by term: Microcephaly 15, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:26005865 PMID:26005868 PMID:28492532 PMID:30043326 More... NCBI chr 4:122,840,643...122,855,844
Ensembl chr 4:122,840,643...122,854,981 		JBrowse link
primary autosomal recessive microcephaly 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankle2 ankyrin repeat and LEM domain containing 2 ISO ClinVar Annotator: match by term: ANKLE2-related condition | ClinVar Annotator: match by term: Microcephaly 16, primary, autosomal recessive OMIM
ClinVar		 PMID:23806086 PMID:24088041 PMID:25259927 PMID:25741868 PMID:28492532 More... NCBI chr 5:110,378,847...110,404,517
Ensembl chr 5:110,378,870...110,404,513 		JBrowse link
primary autosomal recessive microcephaly 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cit citron ISO ClinVar Annotator: match by term: CIT-related condition | ClinVar Annotator: match by term: Microcephaly 17, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:27453578 PMID:27453579 PMID:27503289 PMID:27519304 More... NCBI chr 5:115,983,284...116,147,012
Ensembl chr 5:115,983,337...116,147,006 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Microcephaly 17, primary, autosomal recessive ClinVar PMID:2021172 PMID:2215617 PMID:11139241 PMID:18175313 PMID:18385078 More... NCBI chr 6:115,903,741...115,916,999
Ensembl chr 6:115,908,709...115,916,997 		JBrowse link
primary autosomal recessive microcephaly 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copb2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: COPB2-related condition | ClinVar Annotator: match by term: Microcephaly 19, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29036432 PMID:34450031 NCBI chr 9:98,445,784...98,470,428
Ensembl chr 9:98,445,774...98,470,435 		JBrowse link
primary autosomal recessive microcephaly 2 with or without cortical malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr62 WD repeat domain 62 ISO
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | ClinVar Annotator: match by term: Microcephaly, cortical malformations, and intellectual disability | ClinVar Annotator: match by term: Primary Microcephaly 2 With or Without Cortical Malformations | ClinVar Annotator: match by term: Primary microcephaly type 2 | ClinVar Annotator: match by term: WDR62-related condition
ClinVar Annotator: match by term: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | ClinVar Annotator: match by term: Microcephaly, cortical malformations, and intellectual disability | ClinVar Annotator: match by term: Primary Microcephaly 2 With or Without Cortical Malformations | ClinVar Annotator: match by term: WDR62-related condition
OMIM:604317
DNA:nonsense, insertion, missense mutations:cds:c.1942 C>T,c.3936_3937insC, c.1313G>A,c.1531G>A(human)
DNA:mutation:cds:c.390G > A(human)
DNA:insertion,nonsense mutations:exons:c.535_536insA,c.900C>A(p.C300X)(human) 		OMIM
CTD
ClinVar
MouseDO
RGD		 PMID:3440221 PMID:9536098 PMID:10573015 PMID:16199547 PMID:17576681 More... RGD:11537475, RGD:11537473, RGD:11537472 NCBI chr 7:29,939,563...29,980,243
Ensembl chr 7:29,939,563...29,979,844 		JBrowse link
primary autosomal recessive microcephaly 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif14 kinesin family member 14 ISO ClinVar Annotator: match by term: Microcephaly 20, primary, autosomal recessive OMIM
ClinVar		 PMID:23308235 PMID:25741868 PMID:28492532 PMID:28892560 PMID:29343805 More... NCBI chr 1:136,394,044...136,483,676
Ensembl chr 1:136,394,081...136,459,249 		JBrowse link
primary autosomal recessive microcephaly 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncapd2 non-SMC condensin I complex, subunit D2 ISO ClinVar Annotator: match by term: Microcephaly 21, primary, autosomal recessive | ClinVar Annotator: match by term: NCAPD2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 6:125,144,970...125,169,062
Ensembl chr 6:125,144,970...125,168,664 		JBrowse link
primary autosomal recessive microcephaly 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncapd3 non-SMC condensin II complex, subunit D3 ISO ClinVar Annotator: match by term: Microcephaly 22, primary, autosomal recessive | ClinVar Annotator: match by term: NCAPD3-related condition OMIM
ClinVar		 PMID:25741868 PMID:27737959 PMID:28492532 NCBI chr 9:26,941,455...27,008,667
Ensembl chr 9:26,941,471...27,006,611 		JBrowse link
primary autosomal recessive microcephaly 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncaph non-SMC condensin I complex, subunit H ISO ClinVar Annotator: match by term: Microcephaly 23, primary, autosomal recessive | ClinVar Annotator: match by term: NCAPH-related condition OMIM
ClinVar		 PMID:25741868 PMID:27737959 NCBI chr 2:126,945,729...126,975,857
Ensembl chr 2:126,945,729...126,975,874 		JBrowse link
primary autosomal recessive microcephaly 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup37 nucleoporin 37 ISO ClinVar Annotator: match by term: Microcephaly 24, primary, autosomal recessive | ClinVar Annotator: match by term: NUP37-related condition OMIM
ClinVar		 PMID:25741868 PMID:30179222 NCBI chr10:87,982,838...88,014,257
Ensembl chr10:87,982,854...88,014,252 		JBrowse link
primary autosomal recessive microcephaly 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trappc14 trafficking protein particle complex 14 ISO ClinVar Annotator: match by term: Microcephaly 25, primary, autosomal recessive | ClinVar Annotator: match by term: TRAPPC14-related condition OMIM
ClinVar		 PMID:25741868 PMID:30715179 NCBI chr 5:138,257,920...138,262,323
Ensembl chr 5:138,257,918...138,262,295 		JBrowse link
primary autosomal recessive microcephaly 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rrp7a ribosomal RNA processing 7 homolog A ISO ClinVar Annotator: match by term: Microcephaly 28, primary, autosomal recessive OMIM
ClinVar		 PMID:33199730 NCBI chr15:83,000,047...83,007,002
Ensembl chr15:82,997,634...83,007,002 		JBrowse link
primary autosomal recessive microcephaly 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdcd6ip programmed cell death 6 interacting protein ISO OMIM NCBI chr 9:113,480,812...113,537,457
Ensembl chr 9:113,480,812...113,537,327 		JBrowse link
primary autosomal recessive microcephaly 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk5rap2 CDK5 regulatory subunit associated protein 2 ISO ClinVar Annotator: match by term: CDK5RAP2-related condition | ClinVar Annotator: match by term: Microcephaly 3, primary, autosomal recessive
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation:exon:243T>A(p.S81X)(human)
DNA:nonsense mutation:exon: c.4441C>T (p.R1481X)(human) 		OMIM
ClinVar
CTD
RGD		 PMID:10677332 PMID:15793586 PMID:16199547 PMID:17764569 PMID:18414213 More... RGD:13450905, RGD:11057920 NCBI chr 4:70,135,092...70,328,672
Ensembl chr 4:70,135,093...70,328,680 		JBrowse link
primary autosomal recessive microcephaly 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bub1 BUB1, mitotic checkpoint serine/threonine kinase ISO ClinVar Annotator: match by term: Microcephaly 30, primary, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:35044816 NCBI chr 2:127,642,117...127,673,790
Ensembl chr 2:127,643,036...127,673,785 		JBrowse link
primary autosomal recessive microcephaly 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Knl1 kinetochore scaffold 1 ISO ClinVar Annotator: match by term: KNL1-related condition | ClinVar Annotator: match by term: Microcephaly 4, primary, autosomal recessive
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:10521316 PMID:18414213 PMID:22983954 PMID:25741868 PMID:26626498 More... NCBI chr 2:118,877,600...118,940,978
Ensembl chr 2:118,877,600...118,935,982 		JBrowse link
primary autosomal recessive microcephaly 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspm abnormal spindle microtubule assembly treatment
susceptibility 		ISO ClinVar Annotator: match by term: ASPM-related condition | ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple 		OMIM
ClinVar
RGD
CTD		 PMID:9536098 PMID:11067780 PMID:12355089 PMID:14574646 PMID:15355437 More... RGD:13439744, RGD:1599300, RGD:13439741 NCBI chr 1:139,381,450...139,421,826
Ensembl chr 1:139,382,510...139,421,829 		JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive ClinVar PMID:25741868 NCBI chr 3:40,772,500...40,801,322
Ensembl chr 3:40,772,538...40,801,321 		JBrowse link
G Slc26a4 solute carrier family 26, member 4 ISO ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive ClinVar PMID:12676893 PMID:19287372 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:31,569,813...31,610,054
Ensembl chr12:31,569,826...31,609,968 		JBrowse link
primary autosomal recessive microcephaly 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpap centrosome assembly and centriole elongation protein ISO ClinVar Annotator: match by term: Microcephaly 6, primary, autosomal recessive
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:12843329 PMID:15793586 PMID:16900296 PMID:18414213 PMID:20301772 More... NCBI chr14:56,764,218...56,812,950
Ensembl chr14:56,764,218...56,812,882 		JBrowse link
primary autosomal recessive microcephaly 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stil Scl/Tal1 interrupting locus ISO ClinVar Annotator: match by term: Microcephaly 7, primary, autosomal recessive | ClinVar Annotator: match by term: STIL-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:18414213 PMID:19215732 PMID:20301772 PMID:22989186 PMID:23772360 More... NCBI chr 4:114,857,287...114,900,404
Ensembl chr 4:114,857,356...114,900,393 		JBrowse link
primary autosomal recessive microcephaly 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep135 centrosomal protein 135 ISO ClinVar Annotator: match by term: CEP135-related condition | ClinVar Annotator: match by term: Microcephaly 8, primary, autosomal recessive OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:22521416 PMID:25741868 PMID:26657937 More... NCBI chr 5:76,736,495...76,794,313
Ensembl chr 5:76,736,545...76,794,313 		JBrowse link
primary autosomal recessive microcephaly 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep152 centrosomal protein 152 ISO ClinVar Annotator: match by term: Microcephaly 9, primary, autosomal recessive OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:20598275 PMID:21131973 PMID:24033266 More... NCBI chr 2:125,391,784...125,467,081
Ensembl chr 2:125,405,008...125,467,033 		JBrowse link
primary microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cit citron susceptibility ISO DNA:splice-site mutation:intron (c.753+3A>T) (human)
DNA:splice-site mutation:intron (c.753+3A>T|c.1111+1G>A) (human) 		RGD PMID:27519304 PMID:27503289 RGD:11553038, RGD:11553519 NCBI chr 5:115,983,284...116,147,012
Ensembl chr 5:115,983,337...116,147,006 		JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:9634533 PMID:9653161 PMID:10677299 PMID:10995508 PMID:11078571 More... NCBI chr 7:143,376,827...143,402,147
Ensembl chr 7:143,376,882...143,402,147 		JBrowse link
G Dnah2 dynein, axonemal, heavy chain 2 ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 NCBI chr11:69,311,635...69,439,934
Ensembl chr11:69,311,635...69,439,936 		JBrowse link
G Foxg1 forkhead box G1 ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 NCBI chr12:49,429,666...49,433,650
Ensembl chr12:49,429,443...49,433,644 		JBrowse link
G Igf2bp3 insulin-like growth factor 2 mRNA binding protein 3 ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 NCBI chr 6:49,062,152...49,200,225
Ensembl chr 6:49,062,157...49,191,891 		JBrowse link
G Ino80 INO80 complex subunit ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25558065 PMID:25741868 NCBI chr 2:119,203,523...119,308,168
Ensembl chr 2:119,203,523...119,308,168 		JBrowse link
G Rab11a RAB11A, member RAS oncogene family ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 NCBI chr 9:64,622,582...64,645,038
Ensembl chr 9:64,622,581...64,645,040 		JBrowse link
G Rttn rotatin ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 PMID:26608784 NCBI chr18:88,989,860...89,149,140
Ensembl chr18:88,989,914...89,149,140 		JBrowse link
G Smarcal1 SNF2 related chromatin remodeling ATPase like 1 ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr 1:72,575,593...72,675,949
Ensembl chr 1:72,622,410...72,672,293 		JBrowse link
G Tsr1 TSR1 20S rRNA accumulation ISO ClinVar Annotator: match by term: Primary microcephaly ClinVar PMID:25741868 NCBI chr11:74,788,906...74,800,166
Ensembl chr11:74,788,897...74,800,168 		JBrowse link
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More... NCBI chr 9:108,385,204...108,393,140
Ensembl chr 9:108,384,905...108,393,140 		JBrowse link
PSAT deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psat1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: PSAT deficiency
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:17436247 PMID:17576681 PMID:25152457 PMID:25741868 More... NCBI chr19:15,882,487...15,902,423
Ensembl chr19:15,882,042...15,924,701 		JBrowse link
pseudo-TORCH syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ocln occludin ISO ClinVar Annotator: match by term: OCLN-related disorder | ClinVar Annotator: match by term: Pseudo-TORCH syndrome 1 OMIM
ClinVar		 PMID:18414213 PMID:19012351 PMID:20727516 PMID:25558065 PMID:25741868 More... NCBI chr13:100,633,012...100,689,226
Ensembl chr13:100,633,015...100,689,226 		JBrowse link
Raine Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO ClinVar Annotator: match by term: FAM20C-related condition | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia
CTD Direct Evidence: marker/mechanism
DNA:deletion, snps, missense mutations:multiple (human) 		OMIM
ClinVar
CTD
RGD		 PMID:2020859 PMID:9536098 PMID:12868469 PMID:14564151 PMID:17576681 More... RGD:11560486 NCBI chr 5:138,740,836...138,795,818
Ensembl chr 5:138,740,269...138,795,832 		JBrowse link
Rajab Interstitial Lung Disease with Brain Calcifications 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Farsb phenylalanyl-tRNA synthetase, beta subunit ISO ClinVar Annotator: match by term: FARSB-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES | ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 1 OMIM
ClinVar		 PMID:19161147 PMID:25741868 PMID:28492532 PMID:29573043 PMID:29979980 More... NCBI chr 1:78,394,593...78,465,530
Ensembl chr 1:78,394,612...78,465,534 		JBrowse link
Sebaceous Nevus Syndrome and Hemimegalencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kras Kirsten rat sarcoma viral oncogene homolog ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:1875403 PMID:7773929 PMID:8439212 PMID:12720172 PMID:15093544 More... NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
G Nras neuroblastoma ras oncogene ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:1654209 PMID:6587382 PMID:12727991 PMID:14508525 PMID:18633438 More... NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230 		JBrowse link
Seckel syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atr ataxia telangiectasia and Rad3 related susceptibility ISO
IMP 		DNA:point mutation:2101A>G (human)
ClinVar Annotator: match by term: ATR-related condition | ClinVar Annotator: match by term: Seckel syndrome 1
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:10691732 PMID:11721054 PMID:12640452 PMID:15987455 More... RGD:1599404, RGD:10053614 NCBI chr 9:95,739,655...95,834,813
Ensembl chr 9:95,739,650...95,833,834 		JBrowse link
G Cep152 centrosomal protein 152 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21131973 NCBI chr 2:125,391,784...125,467,081
Ensembl chr 2:125,405,008...125,467,033 		JBrowse link
G Cpap centrosome assembly and centriole elongation protein ISO ClinVar Annotator: match by term: Seckel syndrome 1 ClinVar PMID:18414213 PMID:20301772 PMID:20978018 PMID:25741868 PMID:28492532 NCBI chr14:56,764,218...56,812,950
Ensembl chr14:56,764,218...56,812,882 		JBrowse link
G Pcnt pericentrin (kendrin) ISO CTD Direct Evidence: marker/mechanism CTD PMID:18157127 NCBI chr10:76,187,098...76,279,988
Ensembl chr10:76,187,097...76,278,620 		JBrowse link
Seckel syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcnt pericentrin (kendrin) ISO CTD Direct Evidence: marker/mechanism CTD PMID:18174396 NCBI chr10:76,187,098...76,279,988
Ensembl chr10:76,187,097...76,278,620 		JBrowse link
G Rbbp8 retinoblastoma binding protein 8, endonuclease ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seckel syndrome 2 		OMIM
CTD
ClinVar		 PMID:11781686 PMID:16199547 PMID:18414213 PMID:24389050 PMID:25741868 More... NCBI chr18:11,766,333...11,876,264
Ensembl chr18:11,766,333...11,878,278 		JBrowse link
Seckel syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpap centrosome assembly and centriole elongation protein ISO
IMP 		ClinVar Annotator: match by term: CENPJ-related disorder | ClinVar Annotator: match by term: Seckel syndrome 4
DNA:deletion:splice junction:c.3302-1G >C (IVS11-1G>C)(human) 		OMIM
ClinVar
RGD		 PMID:15793586 PMID:16900296 PMID:18414213 PMID:20301772 PMID:20522431 More... RGD:11541118, RGD:11541114 NCBI chr14:56,764,218...56,812,950
Ensembl chr14:56,764,218...56,812,882 		JBrowse link
Seizures, Cortical Blindness, and Microcephaly Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diaph1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome OMIM
ClinVar		 PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chr18:37,976,654...38,068,573
Ensembl chr18:37,976,654...38,068,529 		JBrowse link
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ext2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME OMIM
ClinVar		 PMID:9326317 PMID:9463333 PMID:10679937 PMID:10713884 PMID:10750558 More... NCBI chr 2:93,525,978...93,652,913
Ensembl chr 2:93,491,373...93,652,913 		JBrowse link
severe combined immunodeficiency 124 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhej1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 124, SEVERE COMBINED | ClinVar Annotator: match by term: SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionizing radiation due to NHEJ1 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency with sensitivity to ionizing radiation due to NHEJ1 deficiency
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:12604777 PMID:16199547 PMID:16439204 PMID:16439205 More... NCBI chr 1:75,006,505...75,101,870
Ensembl chr 1:75,006,298...75,101,844 		JBrowse link
Short Stature and Microcephaly with Genital Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpt centromere protein T ISO ClinVar Annotator: match by term: CENPT-related condition | ClinVar Annotator: match by term: Short stature and microcephaly with genital anomalies OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29228025 NCBI chr 8:106,571,297...106,581,678
Ensembl chr 8:106,571,305...106,579,910 		JBrowse link
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cript cysteine-rich PDZ-binding protein ISO ClinVar Annotator: match by term: CRIPT-related disorder | ClinVar Annotator: match by term: Short stature with microcephaly and distinctive facies OMIM
ClinVar		 PMID:24389050 PMID:25558065 PMID:25741868 PMID:27250922 PMID:28492532 More... NCBI chr17:87,332,989...87,343,236
Ensembl chr17:87,332,978...87,343,238 		JBrowse link
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies | ClinVar Annotator: match by term: ZNF407-related condition OMIM
ClinVar		 PMID:24907849 PMID:25741868 PMID:28492532 PMID:32737394 NCBI chr18:84,225,826...84,612,815
Ensembl chr18:84,146,152...84,607,850 		JBrowse link
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xrcc2 X-ray repair complementing defective repair in Chinese hamster cells 2 ISO ClinVar Annotator: match by term: Short stature, microcephaly, and endocrine dysfunction ClinVar PMID:11118202 PMID:22232082 PMID:25741868 PMID:26046366 PMID:26845104 More... NCBI chr 5:25,894,812...25,910,795
Ensembl chr 5:25,894,810...25,910,823 		JBrowse link
G Xrcc4 X-ray repair complementing defective repair in Chinese hamster cells 4 ISO ClinVar Annotator: match by term: Short stature, microcephaly, and endocrine dysfunction | ClinVar Annotator: match by term: XRCC4-related condition OMIM
ClinVar		 PMID:16199547 PMID:18695064 PMID:24033266 PMID:24389050 PMID:25558065 More... NCBI chr13:89,997,033...90,237,727
Ensembl chr13:89,922,146...90,237,727 		JBrowse link
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csgalnact1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 ISO ClinVar Annotator: match by term: CSGALNACT1-related condition | ClinVar Annotator: match by term: Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27599773 PMID:28492532 More... NCBI chr 8:68,809,433...69,188,270
Ensembl chr 8:68,809,433...69,187,798 		JBrowse link
Snijders Blok-Campeau Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: CHD3-related disorder | ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome OMIM
ClinVar		 PMID:22495309 PMID:25363768 PMID:25741868 PMID:28135719 PMID:28191890 More... NCBI chr11:69,234,099...69,260,325
Ensembl chr11:69,234,099...69,260,232 		JBrowse link
spastic tetraplegia, thin corpus callosum, and progressive microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc1a4 solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 ISO
IAGP 		ClinVar Annotator: match by term: SLC1A4-related condition | ClinVar Annotator: match by term: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
OMIM:616657 		OMIM
ClinVar
MouseDO		 PMID:2837306 PMID:25741868 PMID:25930971 PMID:26041762 PMID:26138499 More... NCBI chr11:20,252,180...20,282,713
Ensembl chr11:20,252,180...20,282,713 		JBrowse link
spondyloepimetaphyseal dysplasia, Genevieve-type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nans N-acetylneuraminic acid synthase (sialic acid synthase) ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 4:46,489,319...46,503,439
Ensembl chr 4:46,489,248...46,503,632 		JBrowse link
Stromme syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpf centromere protein F ISO ClinVar Annotator: match by term: CENPF-related condition | ClinVar Annotator: match by term: Stromme syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8261651 PMID:25564561 PMID:25741868 PMID:25741878 PMID:26197979 More... NCBI chr 1:189,372,803...189,420,302
Ensembl chr 1:189,372,803...189,420,283 		JBrowse link
syndromic microphthalmia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmgb3 high mobility group box 3 ISO ClinVar Annotator: match by term: X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome OMIM
ClinVar		 PMID:25741868 NCBI chr  X:70,599,523...70,604,261
Ensembl chr  X:70,599,524...70,604,282 		JBrowse link
syndromic X-linked intellectual disability Najm type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Najm type
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19165920 More... NCBI chr  X:13,383,319...13,713,020
Ensembl chr  X:13,383,319...13,717,606 		JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Najm type ClinVar PMID:1301956 PMID:9654205 PMID:9974426 PMID:11139254 PMID:11317361 More... NCBI chr 9:21,634,872...21,661,215
Ensembl chr 9:21,634,779...21,661,215 		JBrowse link
syndromic X-linked intellectual disability Turner type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camta1 calmodulin binding transcription activator 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE ClinVar PMID:25741868 NCBI chr 4:151,143,980...151,946,225
Ensembl chr 4:151,143,982...151,946,333 		JBrowse link
G Huwe1 HECT, UBA and WWE domain containing 1 ISO ClinVar Annotator: match by term: HUWE1-related neurodevelopmental disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE | ClinVar Annotator: match by term: Intellectual disability, X-linked syndromic, Turner type
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:6107045 PMID:7943042 PMID:7943044 PMID:16700052 PMID:18252223 More... NCBI chr  X:150,583,779...150,718,413
Ensembl chr  X:150,583,803...150,718,413 		JBrowse link
G Ski ski sarcoma viral oncogene homolog (avian) ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:155,238,532...155,307,536
Ensembl chr 4:155,238,532...155,307,049 		JBrowse link
Tenorio Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf125 ring finger protein 125 ISO ClinVar Annotator: match by term: RNF125-related condition | ClinVar Annotator: match by term: Tenorio syndrome OMIM
ClinVar		 PMID:25196541 PMID:25741868 PMID:28492532 PMID:34196401 NCBI chr18:21,077,672...21,120,416
Ensembl chr18:21,077,682...21,116,919 		JBrowse link
Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H4c14 H4 clustered histone 14 ISO ClinVar Annotator: match by term: H4C3-related condition | ClinVar Annotator: match by term: Tessadori-van Haaften neurodevelopmental syndrome 1 OMIM
ClinVar		 PMID:15808514 PMID:19818714 PMID:25741868 PMID:28920961 PMID:35202563 NCBI chr 3:96,170,250...96,170,633
Ensembl chr 3:96,168,998...96,170,627 		JBrowse link
THAUVIN-ROBINET-FAIVRE SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fibp fibroblast growth factor (acidic) intracellular binding protein ISO ClinVar Annotator: match by term: FIBP-related condition | ClinVar Annotator: match by term: Tall stature-intellectual disability-renal anomalies syndrome OMIM
ClinVar		 PMID:25741868 PMID:26660953 PMID:27183861 PMID:28492532 PMID:36919607 More... NCBI chr19:5,510,626...5,515,080
Ensembl chr19:5,510,643...5,515,079 		JBrowse link
TIMES Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc8c leucine rich repeat containing 8 family, member C ISO ClinVar Annotator: match by term: Telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature OMIM
ClinVar		 PMID:39623139 NCBI chr 5:105,666,850...105,760,884
Ensembl chr 5:105,667,254...105,760,884 		JBrowse link
Tsukahara Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Radioulnar synostosis-microcephaly-scoliosis syndrome ClinVar PMID:25741868 NCBI chr18:84,225,826...84,612,815
Ensembl chr18:84,146,152...84,607,850 		JBrowse link
tuberous sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO protein:decreased expression, altered localization:cerebral cortex: RGD PMID:22752548 RGD:9068443 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 treatment ISO RGD PMID:12384518 RGD:1549429 NCBI chr 8:27,750,355...27,765,684
Ensembl chr 8:27,750,357...27,766,702 		JBrowse link
G Flna filamin, alpha ISO protein:increased expression:prefrontal cortex (human) RGD PMID:25277454 RGD:11565117 NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: therapeutic CTD PMID:16845661 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebral cortex RGD PMID:22459050 RGD:8547829 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Tsc1 TSC complex subunit 1 susceptibility ISO
IAGP
IMP 		DNA:nonsense mutations, deletion: :multiple
ClinVar Annotator: match by term: Cortical tubers | ClinVar Annotator: match by term: Tuberous sclerosis syndrome
OMIM:191100 | OMIM:613254
DNA:nonsense mutation:exon:p.R509X (c.1525C>T) (human)
DNA:deletions, duplication, point mutation:exon, intron:multiple
CTD Direct Evidence: marker/mechanism 		ClinVar
RGD
MouseDO
CTD		 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 More... RGD:1624196, RGD:1624196, RGD:11073512, RGD:11570511, RGD:11062248 NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO
IAGP 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cortical tubers | ClinVar Annotator: match by term: Tuberous sclerosis syndrome
ClinVar Annotator: match by term: Cortical tubers | ClinVar Annotator: match by term: Tuberous sclerosis | ClinVar Annotator: match by term: Tuberous sclerosis syndrome
OMIM:191100 | OMIM:613254
DNA:mutations:exon, intron:multiple 		CTD
ClinVar
MouseDO
RGD		 PMID:1112665 PMID:1520333 PMID:1870099 PMID:2039137 PMID:2903760 More... RGD:11062248, RGD:11568672 NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604 		JBrowse link
tuberous sclerosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 NCBI chr16:17,098,215...17,224,178
Ensembl chr16:17,098,215...17,224,178 		JBrowse link
G Tsc1 TSC complex subunit 1 treatment ISO ClinVar Annotator: match by term: Tuberous sclerosis 1
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD
RGD		 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 More... RGD:11570507 NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:10205261 PMID:17304050 PMID:21520333 PMID:25741868 PMID:27859028 More... NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604 		JBrowse link
tuberous sclerosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Serpinc1 serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:21264449 PMID:23932013 PMID:25298121 PMID:25741868 PMID:28492532 NCBI chr 1:160,806,153...160,830,113
Ensembl chr 1:160,806,155...160,833,433 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3 PMID:1112665 PMID:1520333 PMID:1870099 PMID:2039137 More... NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604 		JBrowse link
Warburg micro syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab18 RAB18, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome 		CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr18:6,765,167...6,791,606
Ensembl chr18:6,733,905...6,794,429 		JBrowse link
G Rab3gap1 RAB3 GTPase activating protein subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome 		CTD
ClinVar		 PMID:25741868 PMID:26467025 PMID:28492532 PMID:35196747 NCBI chr 1:127,796,492...127,871,612
Ensembl chr 1:127,796,510...127,871,605 		JBrowse link
G Rab3gap2 RAB3 GTPase activating protein subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome 		CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 1:184,936,287...185,018,953
Ensembl chr 1:184,936,314...185,018,956 		JBrowse link
G Tbc1d20 TBC1 domain family, member 20 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:152,135,745...152,155,914
Ensembl chr 2:152,135,748...152,155,916 		JBrowse link
Warburg micro syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap1 RAB3 GTPase activating protein subunit 1 ISO ClinVar Annotator: match by term: RAB3GAP1-related disorder | ClinVar Annotator: match by term: Warburg micro syndrome 1 OMIM
ClinVar		 PMID:8249951 PMID:9536098 PMID:15216542 PMID:15216543 PMID:15696165 More... NCBI chr 1:127,796,492...127,871,612
Ensembl chr 1:127,796,510...127,871,605 		JBrowse link
Warburg micro syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap2 RAB3 GTPase activating protein subunit 2 ISO ClinVar Annotator: match by term: MICRO SYNDROME 2 | ClinVar Annotator: match by term: Warburg micro syndrome 2 OMIM
ClinVar		 PMID:16199547 PMID:20967465 PMID:23420520 PMID:24033266 PMID:25741868 More... NCBI chr 1:184,936,287...185,018,953
Ensembl chr 1:184,936,314...185,018,956 		JBrowse link
Warburg micro syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab18 RAB18, member RAS oncogene family ISO
IAGP 		ClinVar Annotator: match by term: RAB18-related condition | ClinVar Annotator: match by term: Warburg micro syndrome 3
OMIM:614222 		OMIM
ClinVar
MouseDO		 PMID:18414213 PMID:21473985 PMID:23420520 PMID:25741868 PMID:28492532 More... NCBI chr18:6,765,167...6,791,606
Ensembl chr18:6,733,905...6,794,429 		JBrowse link
Warburg micro syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d20 TBC1 domain family, member 20 ISO
IAGP 		ClinVar Annotator: match by term: TBC1D20-related condition | ClinVar Annotator: match by term: Warburg micro syndrome 4
OMIM:615663 		OMIM
ClinVar
MouseDO		 PMID:24239381 PMID:25741868 PMID:28492532 PMID:32740904 NCBI chr 2:152,135,745...152,155,914
Ensembl chr 2:152,135,748...152,155,916 		JBrowse link
Webb-Dattani Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arnt2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: ARNT2-related condition | ClinVar Annotator: match by term: Webb-Dattani syndrome OMIM
ClinVar		 PMID:24022475 PMID:25741868 PMID:28492532 NCBI chr 7:83,895,486...84,059,201
Ensembl chr 7:83,895,486...84,059,384 		JBrowse link
Wiedemann-Steiner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chr17:5,044,481...5,397,931
Ensembl chr17:5,044,607...5,397,931 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659 		JBrowse link
G Kmt2a lysine (K)-specific methyltransferase 2A ISO ClinVar Annotator: match by term: KMT2A-related condition | ClinVar Annotator: match by term: Wiedemann-Steiner syndrome OMIM
ClinVar		 PMID:5519603 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 9:44,714,652...44,793,492
Ensembl chr 9:44,714,652...44,792,594 		JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Wiedemann-Steiner syndrome ClinVar PMID:25574841 NCBI chr  X:150,799,386...150,844,969
Ensembl chr  X:150,799,424...150,845,690 		JBrowse link
X-linked VACTERL association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baz1a bromodomain adjacent to zinc finger domain 1A ISO ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations ClinVar NCBI chr12:54,939,774...55,061,155
Ensembl chr12:54,940,336...55,061,133 		JBrowse link
G Fancb Fanconi anemia, complementation group B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: VACTERL-H, X-LINKED | ClinVar Annotator: match by term: X-linked VACTERL-H syndrome 		CTD
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565 NCBI chr  X:163,763,678...163,780,266
Ensembl chr  X:163,763,588...163,780,268 		JBrowse link
G Fancl Fanconi anemia, complementation group L ISO ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus ClinVar PMID:19405097 PMID:23613520 PMID:25741868 PMID:25754594 PMID:28492532 More... NCBI chr11:26,337,084...26,421,883
Ensembl chr11:26,336,135...26,421,876 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly 		CTD
ClinVar		 PMID:9259288 PMID:10866302 PMID:11071384 PMID:11748304 PMID:15492994 More... NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Sall1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:24429398 PMID:25741868 PMID:28492532 NCBI chr 8:89,753,867...89,770,790
Ensembl chr 8:89,753,863...89,770,790 		JBrowse link
G Zic3 zinc finger protein of the cerebellum 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus 		OMIM
CTD
ClinVar		 PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 More... NCBI chr  X:57,075,988...57,081,990
Ensembl chr  X:57,068,060...57,087,096 		JBrowse link
Zaki syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wls wntless WNT ligand secretion mediator ISO
IAGP 		OMIM:619648 OMIM
MouseDO		 NCBI chr 3:159,545,287...159,644,302
Ensembl chr 3:159,545,309...159,644,300 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11502
    disease of anatomical entity 10909
      nervous system disease 7786
        Nervous System Malformations 904
          complex cortical dysplasia with other brain malformations 571
            Malformations of Cortical Development, Group I 495
              Cerebellar Granule Cell Hypertrophy and Megalencephaly 0
              Focal Cortical Dysplasia of Taylor + 5
              Macrocephaly + 69
              microcephaly + 426
              tuberous sclerosis + 9
Path 2
Term Annotations click to browse term
  disease 11502
    Developmental Disease 7526
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6997
        Congenital Abnormalities 3243
          Nervous System Malformations 904
            complex cortical dysplasia with other brain malformations 571
              Malformations of Cortical Development, Group I 495
                Cerebellar Granule Cell Hypertrophy and Megalencephaly 0
                Focal Cortical Dysplasia of Taylor + 5
                Macrocephaly + 69
                microcephaly + 426
                tuberous sclerosis + 9
paths to the root