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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:Hamartoma
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Accession:DOID:9007253 term browser browse the term
Definition:A focal malformation resembling a neoplasm, composed of an overgrowth of mature cells and tissues that normally occur in the affected area.
Synonyms:exact_synonym: Hamartomas
 primary_id: MESH:D006222;   RDO:0002511
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Hamartoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1a bone morphogenetic protein receptor type 1A ISO Cowden-like syndrome, OMIM:158350, DNA:point mutation:exon:A338D RGD PMID:11536076 RGD:734650 NCBI chr16:10,758,278...10,852,170
Ensembl chr16:10,758,527...10,802,512
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21998131 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Flcn folliculin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12204536, PMID:27072130 NCBI chr10:46,153,185...46,172,331
Ensembl chr10:46,153,188...46,172,309
JBrowse link
G Hmga2 high mobility group AT-hook 2 ISO pulmonary chondroid hamartoma RGD PMID:8954805 RGD:1601568 NCBI chr 7:65,159,944...65,275,408
Ensembl chr 7:65,159,944...65,275,408
JBrowse link
G Mif macrophage migration inhibitory factor ISO associated with lung disease; protein:increased expression:lung RGD PMID:18074864 RGD:4891009 NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Hamartoma ClinVar PMID:30311386 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
Bannayan-Riley-Ruvalcaba syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME
ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA
ClinVar PMID:15930273, PMID:17376864, PMID:19366826, PMID:21824802, PMID:22120714, PMID:22729224, PMID:22949682, PMID:24033266, PMID:25157968, PMID:25741868, PMID:26619011, PMID:27631024, PMID:28492532, PMID:28941273, PMID:30311386, PMID:31568861 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Pten phosphatase and tensin homolog ISO
ISS
ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome
ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME
ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA
OMIM:153480
ClinVar
MouseDO
PMID:9140396, PMID:9241266, PMID:9259288, PMID:9399897, PMID:9467011, PMID:9598803, PMID:10232405, PMID:10353779, PMID:10400993, PMID:10468583, PMID:10555148, PMID:10749983, PMID:10848731, PMID:10920277, PMID:10923032, PMID:11238682, PMID:11504908, PMID:11685670, PMID:12844284, PMID:14518070, PMID:15016963, PMID:15211648, PMID:15254419, PMID:15647370, PMID:15805158, PMID:16952599, PMID:17286265, PMID:17392703, PMID:17427195, PMID:17526800, PMID:17873882, PMID:18558293, PMID:18725974, PMID:19265751, PMID:19340001, PMID:19351834, PMID:19366826, PMID:19458356, PMID:19668082, PMID:19829307, PMID:19903786, PMID:20018398, PMID:20085938, PMID:20453058, PMID:20619739, PMID:20881644, PMID:21194675, PMID:21956414, PMID:22162582, PMID:22162589, PMID:22252256, PMID:22381246, PMID:22479427, PMID:22491738, PMID:23335809, PMID:23349303, PMID:23442912, PMID:23470840, PMID:23475934, PMID:23695273, PMID:24033266, PMID:24052722, PMID:24136893, PMID:24778394, PMID:25022750, PMID:25132236, PMID:25157968, PMID:25288137, PMID:25326635, PMID:25669429, PMID:25741868, PMID:25756585, PMID:26773036, PMID:27426521, PMID:27477328, PMID:28286253, PMID:28492532, PMID:28526761, PMID:30287823, PMID:32238909 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA ClinVar PMID:18678321, PMID:21565294, PMID:21979946, PMID:28492532, PMID:29386252 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
JBrowse link
congenital heart defects, hamartomas of tongue, and polysyndactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Orstavik Lindemann Solberg syndrome
ClinVar Annotator: match by term: Congenital heart defects, hamartomas of tongue, and polysyndactyly
ClinVar
OMIM
PMID:20671153, PMID:25326635, PMID:25427950, PMID:25741868, PMID:27158779, PMID:28492532 NCBI chr14:106,393,959...106,759,511
Ensembl chr14:106,393,959...106,759,505
JBrowse link
Congenital Symmetric Circumferential Skin Creases 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb5 tubulin, beta 5 class I ISO ClinVar Annotator: match by term: Symmetric circumferential skin creases, congenital, 1 OMIM
ClinVar
PMID:12239728, PMID:23324645, PMID:26637975 NCBI chr20:3,422,448...3,426,420
Ensembl chr20:3,422,461...3,426,371
JBrowse link
Congenital Symmetric Circumferential Skin Creases 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapre2 microtubule-associated protein, RP/EB family, member 2 ISO ClinVar Annotator: match by term: Skin creases, congenital symmetric circumferential, 2 OMIM
ClinVar
PMID:19182162, PMID:21262397, PMID:26637975 NCBI chr18:14,814,149...15,780,290 JBrowse link
Cowden syndrome 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 chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Klln killin, p53-regulated DNA replication inhibitor ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:2338203, PMID:12844284, PMID:16773562, PMID:17427195, PMID:21194675, PMID:21417916, PMID:21532617, PMID:24033266, PMID:25669429, PMID:25741868, PMID:26467025, PMID:27535533, PMID:27878467, PMID:27884173, PMID:28492532 NCBI chr 1:251,417,849...251,420,794 JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Cowden syndrome
ClinVar Annotator: match by term: Cowden disease
ClinVar Annotator: match by term: Lhermitte-Duclos Disease
ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar PMID:15016963, PMID:15254419, PMID:15520168, PMID:15647370, PMID:15805248, PMID:15930273, PMID:16906227, PMID:16930767, PMID:17376864, PMID:18074223, PMID:18676830, PMID:18725974, PMID:18829572, PMID:19029981, PMID:19366826, PMID:19513541, PMID:19903786, PMID:20453058, PMID:20619739, PMID:21430269, PMID:21824802, PMID:22120714, PMID:22162582, PMID:22162589, PMID:22271473, PMID:22729222, PMID:22729224, PMID:22949682, PMID:24033266, PMID:25157968, PMID:25741868, PMID:26619011, PMID:27631024, PMID:28151489, PMID:28492532, PMID:28941273, PMID:29446767, PMID:30311386, PMID:31568861 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar Annotator: match by term: Cowden disease
ClinVar Annotator: match by term: Lhermitte-Duclos disease
ClinVar
OMIM
PMID:1097835, PMID:2338203, PMID:7728760, PMID:8071972, PMID:8673088, PMID:8980400, PMID:9140396, PMID:9241266, PMID:9256433, PMID:9259288, PMID:9326929, PMID:9399897, PMID:9425889, PMID:9467011, PMID:9598803, PMID:9600246, PMID:9740666, PMID:9794233, PMID:9811831, PMID:9832031, PMID:9832032, PMID:9856571, PMID:9915974, PMID:10051160, PMID:10051603, PMID:10076877, PMID:10232405, PMID:10234502, PMID:10353779, PMID:10400993, PMID:10468583, PMID:10554022, PMID:10555148, PMID:10606430, PMID:10749983, PMID:10777358, PMID:10848731, PMID:10866302, PMID:10920277, PMID:10923032, PMID:10978354, PMID:11052475, PMID:11071384, PMID:11156408, PMID:11238682, PMID:11274365, PMID:11476841, PMID:11504908, PMID:11685670, PMID:11875759, PMID:11918710, PMID:12208743, PMID:12372056, PMID:12414663, PMID:12471211, PMID:12614768, PMID:12833416, PMID:12844284, PMID:12938083, PMID:14518070, PMID:14566704, PMID:14623110, PMID:15016963, PMID:15120218, PMID:15211648, PMID:15254419, PMID:15372512, PMID:15647370, PMID:15805158, PMID:16007494, PMID:16014636, PMID:16021145, PMID:16704655, PMID:16752378, PMID:16773562, PMID:16952599, PMID:17167516, PMID:17286265, PMID:17324556, PMID:17392703, PMID:17427195, PMID:17526800, PMID:17526801, PMID:17847000, PMID:17873119, PMID:17873882, PMID:17928923, PMID:17941496, PMID:17942903, PMID:17954274, PMID:18558293, PMID:18725974, PMID:18767981, PMID:19265751, PMID:19340001, PMID:19351834, PMID:19366826, PMID:19457929, PMID:19458356, PMID:19668082, PMID:19829307, PMID:19903786, PMID:19968660, PMID:20018398, PMID:20085938, PMID:20194734, PMID:20300775, PMID:20301661, PMID:20453058, PMID:20600018, PMID:20619739, PMID:20712882, PMID:20881644, PMID:20926450, PMID:20962022, PMID:21103832, PMID:21194675, PMID:21343951, PMID:21417916, PMID:21532617, PMID:21659347, PMID:21822720, PMID:21828076, PMID:21869887, PMID:21956414, PMID:22162582, PMID:22162589, PMID:22252256, PMID:22261759, PMID:22266152, PMID:22281088, PMID:22320991, PMID:22327138, PMID:22381246, PMID:22469695, PMID:22479427, PMID:22491738, PMID:22520842, PMID:22529920, PMID:22595938, PMID:22703879, PMID:22962422, PMID:23066114, PMID:23160955, PMID:23161105, PMID:23315997, PMID:23335809, PMID:23349303, PMID:23399955, PMID:23442912, PMID:23470840, PMID:23475934, PMID:23555315, PMID:23613428, PMID:23695273, PMID:23757202, PMID:23764071, PMID:23825907, PMID:23886400, PMID:23934111, PMID:23934601, PMID:24033266, PMID:24052722, PMID:24055113, PMID:24099866, PMID:24136893, PMID:24345843, PMID:24375884, PMID:24379037, PMID:24468202, PMID:24728327, PMID:24744697, PMID:24763289, PMID:24778394, PMID:25022750, PMID:25132236, PMID:25157968, PMID:25186627, PMID:25288137, PMID:25326635, PMID:25525159, PMID:25527629, PMID:25647146, PMID:25669429, PMID:25722288, PMID:25741868, PMID:25756585, PMID:25875300, PMID:25910213, PMID:25980754, PMID:26124082, PMID:26229595, PMID:26246517, PMID:26376867, PMID:26467025, PMID:26492180, PMID:26580448, PMID:26619011, PMID:26681312, PMID:26773036, PMID:26795104, PMID:26798346, PMID:26800850, PMID:26845104, PMID:26898890, PMID:27324988, PMID:27426521, PMID:27428751, PMID:27477328, PMID:27514801, PMID:27531073, PMID:27535533, PMID:27878467, PMID:27884173, PMID:27978560, PMID:28086757, PMID:28135145, PMID:28263302, PMID:28286253, PMID:28418444, PMID:28475857, PMID:28492532, PMID:28497778, PMID:28526761, PMID:28655553, PMID:28677221, PMID:29359449, PMID:29663862, PMID:29706350, PMID:29706646, PMID:29785012, PMID:29970488, PMID:30287823, PMID:30793491, PMID:31006514, PMID:32238909 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Rint1 RAD50 interactor 1 ISO ClinVar Annotator: match by term: Cowden syndrome ClinVar PMID:28492532 NCBI chr 4:7,851,602...7,885,446
Ensembl chr 4:7,852,224...7,885,301
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Cowden disease
ClinVar Annotator: match by term: Cowden syndrome
ClinVar PMID:11404820, PMID:14985401, PMID:16314641, PMID:16317055, PMID:16322339, PMID:16912137, PMID:17102082, PMID:17102083, PMID:17298551, PMID:17376234, PMID:17639058, PMID:17987308, PMID:18551016, PMID:18678321, PMID:19368708, PMID:19399650, PMID:19454582, PMID:19802898, PMID:21979946, PMID:22517554, PMID:22703879, PMID:22995991, PMID:23072324, PMID:23660872, PMID:23666964, PMID:24033266, PMID:24728327, PMID:25333069, PMID:25694510, PMID:25741868, PMID:26092435, PMID:26269449, PMID:26729832, PMID:27604842, PMID:28229225, PMID:28492532 NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Cowden disease ClinVar PMID:18678321, PMID:21565294, PMID:21979946, PMID:28492532, PMID:29386252 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
JBrowse link
Cowden Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klln killin, p53-regulated DNA replication inhibitor ISO OMIM NCBI chr 1:251,417,849...251,420,794 JBrowse link
Cowden Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Cowden syndrome 5 OMIM
ClinVar
PMID:17376864, PMID:21824802, PMID:22729224, PMID:23246288, PMID:24033266, PMID:25157968, PMID:25741868, PMID:26619011, PMID:27631024, PMID:28492532, PMID:31568861 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
Cowden Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Cowden syndrome 6 ClinVar
OMIM
PMID:17611497, PMID:18256540, PMID:18392055, PMID:18504432, PMID:18611285, PMID:19418217, PMID:19487299, PMID:19853286, PMID:20233444, PMID:20453058, PMID:21464312, PMID:21512767, PMID:21793738, PMID:22538770, PMID:22610119, PMID:22722201, PMID:22722839, PMID:22980975, PMID:23237847, PMID:23246288, PMID:23348505, PMID:23700467, PMID:23728071, PMID:23884910, PMID:23934607, PMID:24190505, PMID:24657128, PMID:24728327, PMID:25157968, PMID:25741868, PMID:26619011, PMID:28459198, PMID:28492532, PMID:28655553 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
Cowden Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec23b Sec23 homolog B, COPII coat complex component ISO ClinVar Annotator: match by term: Cowden syndrome 7 ClinVar
OMIM
PMID:19561605, PMID:19621418, PMID:25044164, PMID:26522472, PMID:28492532, PMID:30311386 NCBI chr 3:138,715,118...138,757,111
Ensembl chr 3:138,715,570...138,757,111
JBrowse link
Cowden-Like Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Cowden syndrome 2 ClinVar PMID:15930273, PMID:17376864, PMID:19366826, PMID:21824802, PMID:22120714, PMID:22729224, PMID:22949682, PMID:24033266, PMID:25157968, PMID:25741868, PMID:26619011, PMID:27631024, PMID:28492532, PMID:28941273, PMID:30311386, PMID:31568861 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Cowden syndrome 2 ClinVar PMID:9140396, PMID:9241266, PMID:9259288, PMID:9399897, PMID:9467011, PMID:9598803, PMID:10232405, PMID:10353779, PMID:10400993, PMID:10468583, PMID:10555148, PMID:10749983, PMID:10848731, PMID:10920277, PMID:10923032, PMID:11238682, PMID:11504908, PMID:11685670, PMID:12844284, PMID:14518070, PMID:15016963, PMID:15211648, PMID:15254419, PMID:15647370, PMID:15805158, PMID:16952599, PMID:17286265, PMID:17392703, PMID:17427195, PMID:17526800, PMID:17873882, PMID:18558293, PMID:18725974, PMID:19265751, PMID:19340001, PMID:19351834, PMID:19366826, PMID:19458356, PMID:19668082, PMID:19829307, PMID:19903786, PMID:20018398, PMID:20085938, PMID:20453058, PMID:20619739, PMID:20881644, PMID:21194675, PMID:21956414, PMID:22162582, PMID:22162589, PMID:22252256, PMID:22381246, PMID:22479427, PMID:22491738, PMID:23335809, PMID:23349303, PMID:23442912, PMID:23470840, PMID:23475934, PMID:23695273, PMID:24033266, PMID:24052722, PMID:24136893, PMID:24778394, PMID:25022750, PMID:25132236, PMID:25157968, PMID:25288137, PMID:25326635, PMID:25669429, PMID:25741868, PMID:25756585, PMID:26773036, PMID:27426521, PMID:27477328, PMID:28286253, PMID:28492532, PMID:28526761, PMID:30287823, PMID:32238909 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Cowden syndrome 2 ClinVar PMID:18678321, PMID:21565294, PMID:21979946, PMID:28492532, PMID:29386252 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
JBrowse link
Culler-Jones syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Culler-Jones syndrome
ClinVar Annotator: match by term: PALLISTER-HALL SYNDROME 2
OMIM
ClinVar
PMID:6726521, PMID:15994174, PMID:20685856, PMID:22967285, PMID:25741868, PMID:31292255 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
Macrocephaly Mesodermal Hamartoma Spectrum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Elattoproteus syndrome ClinVar PMID:17611497, PMID:18256540, PMID:18392055, PMID:18504432, PMID:18611285, PMID:19418217, PMID:19487299, PMID:19853286, PMID:20233444, PMID:20453058, PMID:21464312, PMID:21512767, PMID:21793738, PMID:22538770, PMID:22610119, PMID:22722201, PMID:22722839, PMID:22980975, PMID:23237847, PMID:23348505, PMID:23700467, PMID:23728071, PMID:23934607, PMID:24190505, PMID:24657128, PMID:25157968, PMID:26619011, PMID:28492532 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
Pallister-Hall syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli3 GLI family zinc finger 3 ISO DNA:frameshift deletions
ClinVar Annotator: match by OMIM:146510
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pallister-Hall syndrome
DNA:deletions
DNA:mutations:exon, intron:multiple
OMIM
ClinVar
CTD
PMID:9054938, PMID:9148633, PMID:10441570, PMID:10945658, PMID:12545275, PMID:15739154, PMID:21532573, PMID:24736735, PMID:25741868, PMID:28492532, PMID:9054938, PMID:11978771, PMID:24736735, PMID:15739154 RGD:1599838, RGD:12738143, RGD:12738205, RGD:12738222 NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
JBrowse link
Pallister-Hall-like Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli3 GLI family zinc finger 3 ISO OMIM NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
JBrowse link
G Smo smoothened, frizzled class receptor ISO ClinVar Annotator: match by term: Hypothalamic hamartoma OMIM
ClinVar
PMID:30497210, PMID:32413283 NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
JBrowse link
Proteus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO DNA:missense mutation: :p.E17K (human)
ClinVar Annotator: match by term: Proteus syndrome
ClinVar
OMIM
PMID:17611497, PMID:18256540, PMID:18392055, PMID:18504432, PMID:18611285, PMID:19418217, PMID:19487299, PMID:19853286, PMID:20233444, PMID:20453058, PMID:21464312, PMID:21512767, PMID:21793738, PMID:22538770, PMID:22610119, PMID:22722201, PMID:22722839, PMID:22980975, PMID:23237847, PMID:23348505, PMID:23700467, PMID:23728071, PMID:23934607, PMID:24190505, PMID:24657128, PMID:25157968, PMID:26619011, PMID:28492532, PMID:21793738 RGD:5509063 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Proteus-like syndrome
CTD
ClinVar
PMID:9399897, PMID:9467011, PMID:10232405, PMID:10353779, PMID:10400993, PMID:10468583, PMID:10749983, PMID:10848731, PMID:11238682, PMID:11685670, PMID:11748304, PMID:12471211, PMID:12844284, PMID:14518070, PMID:15805158, PMID:17286265, PMID:17392703, PMID:17427195, PMID:19265751, PMID:19668082, PMID:21194675, PMID:21956414, PMID:22252256, PMID:22381246, PMID:23442912, PMID:23470840, PMID:23475934, PMID:23695273, PMID:24033266, PMID:24052722, PMID:24136893, PMID:24778394, PMID:25022750, PMID:25132236, PMID:25157968, PMID:25326635, PMID:25669429, PMID:25741868, PMID:25756585, PMID:27477328, PMID:27535533, PMID:28492532, PMID:28526761, PMID:30287823, PMID:32238909 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
PTEN hamartoma tumor syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:18456716, PMID:21926107, PMID:22382802, PMID:23132533, PMID:23335809, PMID:28492532 NCBI chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
JBrowse link
G Ankrd22 ankyrin repeat domain 22 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:18456716, PMID:21926107, PMID:22382802, PMID:23132533, PMID:23335809, PMID:28492532 NCBI chr 1:252,430,750...252,461,346
Ensembl chr 1:252,429,677...252,461,461
JBrowse link
G Atad1 ATPase family, AAA domain containing 1 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:16287957, PMID:16685657, PMID:18456716, PMID:18510548, PMID:23335809, PMID:28492532 NCBI chr 1:251,234,702...251,386,996
Ensembl chr 1:251,235,508...251,387,002
JBrowse link
G Bmpr1a bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:28492532 NCBI chr16:10,758,278...10,852,170
Ensembl chr16:10,758,527...10,802,512
JBrowse link
G Fam25a family with sequence similarity 25, member A ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:28492532 NCBI chr16:10,702,264...10,706,073
Ensembl chr16:10,702,263...10,706,073
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9002682 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:28492532 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Klln killin, p53-regulated DNA replication inhibitor ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:2338203, PMID:11906179, PMID:12844284, PMID:16052674, PMID:16287957, PMID:16685657, PMID:16773562, PMID:17427195, PMID:18456716, PMID:18510548, PMID:20862607, PMID:21194675, PMID:21417916, PMID:21532617, PMID:21926107, PMID:21956414, PMID:22382802, PMID:22595938, PMID:23132533, PMID:23335809, PMID:24033266, PMID:25669429, PMID:25741868, PMID:26229595, PMID:26467025, PMID:27535533, PMID:27878467, PMID:27884173, PMID:28492532, PMID:28526761 NCBI chr 1:251,417,849...251,420,794 JBrowse link
G Lipf lipase F, gastric type ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:16287957, PMID:16685657, PMID:18456716, PMID:18510548, PMID:21926107, PMID:22382802, PMID:23132533, PMID:23335809, PMID:28492532 NCBI chr 1:252,284,464...252,302,811
Ensembl chr 1:252,284,464...252,302,811
JBrowse link
G Lipk lipase, family member K ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:16287957, PMID:16685657, PMID:18456716, PMID:18510548, PMID:21926107, PMID:22382802, PMID:23132533, PMID:23335809, PMID:28492532 NCBI chr 1:252,323,865...252,355,893
Ensembl chr 1:252,323,865...252,355,541
JBrowse link
G Lipm lipase, family member M ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:18456716, PMID:21926107, PMID:22382802, PMID:23132533, PMID:23335809, PMID:28492532 NCBI chr 1:252,409,232...252,428,567
Ensembl chr 1:252,409,268...252,428,774
JBrowse link
G Lipn lipase, family member N ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:16287957, PMID:16685657, PMID:18456716, PMID:18510548, PMID:21926107, PMID:22382802, PMID:23132533, PMID:23335809, PMID:28492532 NCBI chr 1:252,375,941...252,394,226
Ensembl chr 1:252,375,933...252,396,460
JBrowse link
G Minpp1 multiple inositol-polyphosphate phosphatase 1 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:16287957, PMID:16685657, PMID:18456716, PMID:18510548, PMID:23335809, PMID:28492532 NCBI chr 1:251,045,352...251,071,045
Ensembl chr 1:251,045,440...251,071,040
JBrowse link
G Mmrn2 multimerin 2 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:28492532 NCBI chr16:10,727,552...10,749,303
Ensembl chr16:10,727,571...10,749,382
JBrowse link
G Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:16287957, PMID:16685657, PMID:18456716, PMID:18510548, PMID:23335809, PMID:28492532 NCBI chr 1:251,145,264...251,230,716
Ensembl chr 1:251,145,253...251,230,715
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Multiple hamartoma syndrome ClinVar PMID:15930273, PMID:17376864, PMID:19366826, PMID:21824802, PMID:22120714, PMID:22729224, PMID:22949682, PMID:24033266, PMID:25157968, PMID:25741868, PMID:26619011, PMID:27631024, PMID:28492532, PMID:28941273, PMID:30311386, PMID:31568861 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Pten phosphatase and tensin homolog susceptibility ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome
CTD Direct Evidence: marker/mechanism
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)
ClinVar
CTD
PMID:1097835, PMID:2338203, PMID:7728760, PMID:8071972, PMID:8673088, PMID:8980400, PMID:9140396, PMID:9241266, PMID:9256433, PMID:9259288, PMID:9286463, PMID:9288766, PMID:9326929, PMID:9371490, PMID:9399897, PMID:9425889, PMID:9467011, PMID:9598803, PMID:9600246, PMID:9619835, PMID:9685848, PMID:9735393, PMID:9740666, PMID:9788441, PMID:9794233, PMID:9797362, PMID:9832031, PMID:9832032, PMID:9856571, PMID:9915974, PMID:10051603, PMID:10076877, PMID:10232405, PMID:10234502, PMID:10353779, PMID:10400993, PMID:10468583, PMID:10555148, PMID:10606430, PMID:10698513, PMID:10749983, PMID:10772829, PMID:10777358, PMID:10807691, PMID:10848731, PMID:10866302, PMID:10866658, PMID:10920277, PMID:10923032, PMID:10959096, PMID:10978354, PMID:11035045, PMID:11052475, PMID:11071384, PMID:11108659, PMID:11156408, PMID:11238682, PMID:11274365, PMID:11332402, PMID:11355302, PMID:11476841, PMID:11494117, PMID:11496368, PMID:11504908, PMID:11685670, PMID:11748304, PMID:11875759, PMID:11886535, PMID:11906179, PMID:11918710, PMID:11939587, PMID:11948419, PMID:12085208, PMID:12208743, PMID:12297295, PMID:12372056, PMID:12471211, PMID:12614768, PMID:12788938, PMID:12844284, PMID:12938083, PMID:14518070, PMID:14566704, PMID:14574156, PMID:14623110, PMID:14675182, PMID:15016963, PMID:15120218, PMID:15211648, PMID:15254419, PMID:15372512, PMID:15647370, PMID:15659546, PMID:15769473, PMID:15805158, PMID:15896465, PMID:15987703, PMID:16007494, PMID:16014636, PMID:16021145, PMID:16052674, PMID:16287957, PMID:16506206, PMID:16598737, PMID:16619501, PMID:16685657, PMID:16704655, PMID:16752378, PMID:16773562, PMID:16829519, PMID:16894538, PMID:16952599, PMID:17043057, PMID:17218260, PMID:17218261, PMID:17286265, PMID:17324556, PMID:17392703, PMID:17427195, PMID:17444818, PMID:17526800, PMID:17526801, PMID:17636424, PMID:17847000, PMID:17873119, PMID:17873882, PMID:17898811, PMID:17928923, PMID:17941496, PMID:17942903, PMID:17954274, PMID:18080326, PMID:18456716, PMID:18510548, PMID:18558293, PMID:18716620, PMID:18725974, PMID:18759867, PMID:18767981, PMID:18794879, PMID:19265751, PMID:19321504, PMID:19329485, PMID:19340001, PMID:19351834, PMID:19366826, PMID:19457929, PMID:19458356, PMID:19668082, PMID:19719509, PMID:19763152, PMID:19829307, PMID:19903786, PMID:19956187, PMID:19968660, PMID:20018398, PMID:20085938, PMID:20186503, PMID:20194734, PMID:20223021, PMID:20300775, PMID:20307669, PMID:20395440, PMID:20453058, PMID:20533527, PMID:20538496, PMID:20600018, PMID:20619739, PMID:20712882, PMID:20718038, PMID:20862607, PMID:20881644, PMID:20926450, PMID:20962022, PMID:21103832, PMID:21194575, PMID:21194675, PMID:21291452, PMID:21343951, PMID:21417916, PMID:21532617, PMID:21659347, PMID:21822720, PMID:21824802, PMID:21828076, PMID:21869887, PMID:21926107, PMID:21956414, PMID:22076652, PMID:22162582, PMID:22162589, PMID:22252256, PMID:22261759, PMID:22266152, PMID:22281088, PMID:22320991, PMID:22327138, PMID:22381246, PMID:22382802, PMID:22406018, PMID:22469695, PMID:22479427, PMID:22491738, PMID:22503188, PMID:22505997, PMID:22520842, PMID:22529920, PMID:22558107, PMID:22595938, PMID:22628360, PMID:22703879, PMID:22713753, PMID:22962422, PMID:23066114, PMID:23117110, PMID:23124040, PMID:23132533, PMID:23160955, PMID:23161105, PMID:23315997, PMID:23335809, PMID:23349303, PMID:23382303, PMID:23399955, PMID:23419777, PMID:23423780, PMID:23442912, PMID:23470840, PMID:23475934, PMID:23555315, PMID:23633456, PMID:23695273, PMID:23757202, PMID:23764071, PMID:23886400, PMID:23934111, PMID:23934601, PMID:24004025, PMID:24033266, PMID:24052722, PMID:24055113, PMID:24136893, PMID:24292679, PMID:24345843, PMID:24375884, PMID:24379037, PMID:24468202, PMID:24483290, PMID:24498881, PMID:24500884, PMID:24641667, PMID:24647592, PMID:24656772, PMID:24721394, PMID:24728327, PMID:24744697, PMID:24763289, PMID:24778394, PMID:24905788, PMID:25022750, PMID:25132236, PMID:25157968, PMID:25186627, PMID:25246819, PMID:25288137, PMID:25326635, PMID:25336918, PMID:25363760, PMID:25418537, PMID:25429968, PMID:25448478, PMID:25448482, PMID:25525159, PMID:25527629, PMID:25549896, PMID:25647146, PMID:25669429, PMID:25722288, PMID:25741868, PMID:25756585, PMID:25875300, PMID:25910213, PMID:25937288, PMID:25944380, PMID:25980754, PMID:26076150, PMID:26124082, PMID:26157835, PMID:26185318, PMID:26216063, PMID:26229595, PMID:26246517, PMID:26279303, PMID:26350204, PMID:26362251, PMID:26376867, PMID:26443266, PMID:26467025, PMID:26468640, PMID:26504226, PMID:26517354, PMID:26534844, PMID:26579216, PMID:26580448, PMID:26619011, PMID:26633542, PMID:26681312, PMID:26773036, PMID:26787237, PMID:26795104, PMID:26798346, PMID:26800850, PMID:26845104, PMID:26898890, PMID:27087592, PMID:27157322, PMID:27426521, PMID:27428751, PMID:27477328, PMID:27514801, PMID:27531073, PMID:27535533, PMID:27720647, PMID:27824329, PMID:27854218, PMID:27878467, PMID:27884173, PMID:27978560, PMID:28086757, PMID:28135145, PMID:28191890, PMID:28195393, PMID:28250423, PMID:28263302, PMID:28263967, PMID:28286253, PMID:28418444, PMID:28475857, PMID:28492532, PMID:28497778, PMID:28513612, PMID:28523199, PMID:28526761, PMID:28600779, PMID:28655553, PMID:28677221, PMID:28724667, PMID:28774669, PMID:29043291, PMID:29048666, PMID:29117568, PMID:29273943, PMID:29296277, PMID:29359449, PMID:29373119, PMID:29510612, PMID:29608813, PMID:29663862, PMID:29706350, PMID:29706633, PMID:29706646, PMID:29752200, PMID:29785012, PMID:29874181, PMID:29970488, PMID:30043523, PMID:30287823, PMID:30311380, PMID:30311381, PMID:30311386, PMID:30327747, PMID:30482242, PMID:30793491, PMID:30809968, PMID:30993208, PMID:31006514, PMID:32238909, PMID:32566746, PMID:9697695, PMID:24102544, PMID:16773562, PMID:9140396, PMID:17341483 RGD:1302552, RGD:12859041, RGD:12859035, RGD:12802361, RGD:12802356 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Rnls renalase, FAD-dependent amine oxidase ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:16287957, PMID:16685657, PMID:18456716, PMID:18510548, PMID:21926107, PMID:22382802, PMID:23132533, PMID:23335809, PMID:28492532 NCBI chr 1:251,828,285...252,101,963
Ensembl chr 1:251,828,290...252,100,759
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Multiple hamartoma syndrome ClinVar PMID:18678321, PMID:21565294, PMID:21979946, PMID:28492532, PMID:29386252 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
JBrowse link
G Shld2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:28492532 NCBI chr16:10,570,307...10,661,528
Ensembl chr16:10,570,314...10,661,528
JBrowse link
G Sncg synuclein, gamma ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:28492532 NCBI chr16:10,722,110...10,726,648
Ensembl chr16:10,722,106...10,726,707
JBrowse link
G Stambpl1 STAM binding protein-like 1 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:18456716, PMID:21926107, PMID:22382802, PMID:23132533, PMID:23335809, PMID:28492532 NCBI chr 1:252,490,125...252,536,113
Ensembl chr 1:252,497,452...252,536,104
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 chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 treatment IDA RGD PMID:12384518 RGD:1549429 NCBI chr16:68,954,860...68,968,248
Ensembl chr16:68,954,875...68,968,248
JBrowse link
G Flna filamin A ISO protein:increased expression:prefrontal cortex (human) RGD PMID:25277454 RGD:11565117 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: therapeutic CTD PMID:16845661 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebral cortex RGD PMID:22459050 RGD:8547829 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Tsc1 TSC complex subunit 1 susceptibility ISO DNA:nonsense mutations, deletion: :multiple
ClinVar Annotator: match by term: Tuberous sclerosis syndrome
DNA:nonsense mutation:exon:p.R509X (c.1525C>T) (human)
DNA:deletions, duplication, point mutation:exon, intron:multiple
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tuberous sclerosis syndrome, UMLS OMIM term: TUBEROSE SCLEROSIS
ClinVar
RGD
CTD
PMID:9242607, PMID:9328481, PMID:9803264, PMID:9863590, PMID:9924605, PMID:10090883, PMID:10205261, PMID:10227394, PMID:10330349, PMID:10340649, PMID:10353610, PMID:10363127, PMID:10533066, PMID:10533067, PMID:10533069, PMID:10570911, PMID:10607950, PMID:10874311, PMID:11112665, PMID:11208653, PMID:11329144, PMID:11774213, PMID:12015165, PMID:12111193, PMID:12112044, PMID:12773163, PMID:12853839, PMID:14551205, PMID:14633685, PMID:14642745, PMID:14756965, PMID:15121797, PMID:15236319, PMID:15798777, PMID:16114042, PMID:16554133, PMID:16981987, PMID:17304050, PMID:18032745, PMID:18345974, PMID:18397877, PMID:18414213, PMID:18772611, PMID:18830229, PMID:18854862, PMID:19139070, PMID:19175396, PMID:19254590, PMID:19419980, PMID:19747374, PMID:19918125, PMID:20165957, PMID:20185476, PMID:20399389, PMID:20498439, PMID:20547222, PMID:20633017, PMID:21062901, PMID:21309039, PMID:21345208, PMID:21510812, PMID:21520333, PMID:21624971, PMID:21811971, PMID:22161988, PMID:22490766, PMID:22558107, PMID:22703879, PMID:22707517, PMID:22791573, PMID:22867869, PMID:22903760, PMID:22923433, PMID:22995991, PMID:23254740, PMID:23341583, PMID:23389244, PMID:23401075, PMID:23514105, PMID:23857276, PMID:24033266, PMID:24633152, PMID:24728327, PMID:24789117, PMID:25077650, PMID:25326635, PMID:25498131, PMID:25525159, PMID:25741868, PMID:25900779, PMID:26231267, PMID:26332594, PMID:26467025, PMID:26540169, PMID:27153395, PMID:27425891, PMID:27470532, PMID:27494029, PMID:27600092, PMID:28065512, PMID:28087349, PMID:28291513, PMID:28492532, PMID:28968464, PMID:29101226, PMID:29127155, PMID:29196670, PMID:29221145, PMID:29286531, PMID:29432982, PMID:29458892, PMID:29706646, PMID:29740858, PMID:29932062, PMID:30311386, PMID:30581017, PMID:32238909, PMID:9242607, PMID:25900779, PMID:21403402, PMID:16114042 RGD:1624196, RGD:1624196, RGD:11073512, RGD:11570511, RGD:11062248 NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis syndrome, UMLS OMIM term: TUBEROSE SCLEROSIS
ClinVar Annotator: match by term: Cortical tubers
DNA:mutations:exon, intron:multiple
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1112665, PMID:1870099, PMID:2139039, PMID:4461062, PMID:5279523, PMID:7581393, PMID:7823706, PMID:8634701, PMID:8824881, PMID:8825048, PMID:9076719, PMID:9242607, PMID:9285776, PMID:9302281, PMID:9328481, PMID:9361032, PMID:9412784, PMID:9452050, PMID:9463313, PMID:9813776, PMID:9829910, PMID:9881533, PMID:10069705, PMID:10090883, PMID:10205261, PMID:10206124, PMID:10215407, PMID:10330349, PMID:10533066, PMID:10533067, PMID:10570911, PMID:10577937, PMID:10607950, PMID:10633137, PMID:10732801, PMID:10735580, PMID:10823953, PMID:10905251, PMID:10942116, PMID:11068191, PMID:11112665, PMID:11208653, PMID:11290735, PMID:11403047, PMID:11437991, PMID:11468687, PMID:11520734, PMID:11521203, PMID:11603814, PMID:11741832, PMID:11741833, PMID:11810271, PMID:11829138, PMID:12015165, PMID:12062115, PMID:12086608, PMID:12111193, PMID:12136241, PMID:12235314, PMID:12752578, PMID:12906785, PMID:12913212, PMID:14508401, PMID:14641237, PMID:14718525, PMID:14756965, PMID:14993219, PMID:15024740, PMID:15072102, PMID:15121797, PMID:15483652, PMID:15595939, PMID:15712319, PMID:15798777, PMID:15874888, PMID:15963462, PMID:16032769, PMID:16042315, PMID:16114042, PMID:16129702, PMID:16237225, PMID:16417848, PMID:16464865, PMID:16554133, PMID:16877242, PMID:16981987, PMID:17003820, PMID:17034546, PMID:17120248, PMID:17304050, PMID:17536269, PMID:17681840, PMID:18032745, PMID:18302728, PMID:18308511, PMID:18345974, PMID:18410267, PMID:18411301, PMID:18414213, PMID:18550814, PMID:18772611, PMID:18792920, PMID:18854862, PMID:19254590, PMID:19258292, PMID:19259131, PMID:19369101, PMID:19419980, PMID:19747374, PMID:20108343, PMID:20165957, PMID:20399389, PMID:20498439, PMID:20633017, PMID:21062901, PMID:21115397, PMID:21182496, PMID:21309039, PMID:21332470, PMID:21345208, PMID:21403110, PMID:21407264, PMID:21418539, PMID:21510812, PMID:21520333, PMID:21567926, PMID:21624971, PMID:21811971, PMID:21846442, PMID:21910228, PMID:22161988, PMID:22490766, PMID:22552000, PMID:22558107, PMID:22703879, PMID:22805177, PMID:22867869, PMID:22903760, PMID:22995991, PMID:23006675, PMID:23217510, PMID:23254740, PMID:23389244, PMID:23504366, PMID:23514105, PMID:23955302, PMID:24033266, PMID:24055113, PMID:24271014, PMID:24412076, PMID:24728327, PMID:24789117, PMID:25039834, PMID:25058500, PMID:25088526, PMID:25203624, PMID:25231023, PMID:25281918, PMID:25338684, PMID:25432535, PMID:25498131, PMID:25525159, PMID:25599672, PMID:25637381, PMID:25741868, PMID:25782670, PMID:25862857, PMID:25911330, PMID:25927202, PMID:26155992, PMID:26332594, PMID:26467025, PMID:26489027, PMID:26540169, PMID:26633542, PMID:26703369, PMID:26706013, PMID:27078846, PMID:27153395, PMID:27174333, PMID:27176796, PMID:27406250, PMID:27493206, PMID:27494029, PMID:27600092, PMID:27854218, PMID:27859028, PMID:27884173, PMID:28065512, PMID:28087349, PMID:28127866, PMID:28149746, PMID:28178598, PMID:28211972, PMID:28250423, PMID:28397210, PMID:28409891, PMID:28492532, PMID:28505269, PMID:28600779, PMID:28968464, PMID:29101226, PMID:29167182, PMID:29196670, PMID:29271092, PMID:29344138, PMID:29476190, PMID:29500070, PMID:29642139, PMID:29801666, PMID:30024541, PMID:30311386, PMID:32581362, PMID:32860008, PMID:16114042, PMID:9007104 RGD:11062248, RGD:11568672 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
tuberous sclerosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:4,374,679...4,394,374
Ensembl chr 3:4,374,602...4,394,428
JBrowse link
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,519,921...5,558,390
Ensembl chr 3:5,519,990...5,558,166
JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,624,473...5,654,890
Ensembl chr 3:5,624,506...5,654,910
JBrowse link
G Ak8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 NCBI chr 3:7,279,429...7,394,509
Ensembl chr 3:7,279,340...7,394,513
JBrowse link
G Brd3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,995,204...6,054,467
Ensembl chr 3:5,997,315...6,054,483
JBrowse link
G Cacfd1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,555,807...5,571,205
Ensembl chr 3:5,555,807...5,572,064
JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:7,134,021...7,141,522
Ensembl chr 3:7,134,021...7,141,522
JBrowse link
G Dbh dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,709,236...5,731,895
Ensembl chr 3:5,709,236...5,731,898
JBrowse link
G Fam163b family with sequence similarity 163, member B ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,656,400...5,693,273
Ensembl chr 3:5,656,163...5,693,147
JBrowse link
G Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:7,076,582...7,079,652 JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:7,190,721...7,203,444
Ensembl chr 3:7,190,722...7,203,420
JBrowse link
G Gtf3c5 general transcription factor IIIC subunit 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:7,144,354...7,164,678
Ensembl chr 3:7,144,250...7,164,654
JBrowse link
G Med22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,453,678...5,458,760
Ensembl chr 3:5,453,614...5,458,782
JBrowse link
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,608,243...5,617,689
Ensembl chr 3:5,608,243...5,617,225
JBrowse link
G Ralgds ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:7,090,134...7,130,548
Ensembl chr 3:7,109,920...7,130,548
JBrowse link
G Rexo4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,500,578...5,510,908
Ensembl chr 3:5,500,589...5,510,908
JBrowse link
G Rpl7a ribosomal protein L7a ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,458,985...5,461,627
Ensembl chr 3:5,459,160...5,461,583
Ensembl chr 3:5,459,160...5,461,583
JBrowse link
G Sardh sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,737,203...5,802,153
Ensembl chr 3:5,737,200...5,802,129
JBrowse link
G Slc2a6 solute carrier family 2 member 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,567,729...5,575,144
Ensembl chr 3:5,568,321...5,575,136
JBrowse link
G Spaca9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 NCBI chr 3:7,269,851...7,279,253
Ensembl chr 3:7,269,853...7,278,758
JBrowse link
G Stkld1 serine/threonine kinase-like domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,481,524...5,500,568
Ensembl chr 3:5,481,522...5,500,583
JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,461,717...5,464,560
Ensembl chr 3:4,869,795...4,872,632
JBrowse link
G Surf2 surfeit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,464,593...5,468,426
Ensembl chr 3:5,464,424...5,468,244
JBrowse link
G Surf4 surfeit 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,468,284...5,481,447
Ensembl chr 3:5,461,770...5,483,239
JBrowse link
G Surf6 surfeit 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,441,404...5,452,156
Ensembl chr 3:5,441,409...5,452,156
JBrowse link
G Tsc1 TSC complex subunit 1 treatment ISO ClinVar Annotator: match by term: Tuberous sclerosis 1
ClinVar Annotator: match by term: Tuberous sclerosis syndrome, UMLS OMIM term: TUBEROSE SCLEROSIS
ClinVar Annotator: match by OMIM:191100
OMIM
ClinVar
PMID:9242607, PMID:9328481, PMID:9803264, PMID:9863590, PMID:9924605, PMID:10090883, PMID:10227394, PMID:10330349, PMID:10340649, PMID:10353610, PMID:10363127, PMID:10533066, PMID:10533067, PMID:10533069, PMID:10570911, PMID:10607950, PMID:10874311, PMID:11112665, PMID:11208653, PMID:11281455, PMID:11329144, PMID:11774213, PMID:12015165, PMID:12111193, PMID:12112044, PMID:12773163, PMID:12853839, PMID:14551205, PMID:14633685, PMID:14642745, PMID:14756965, PMID:15121797, PMID:15236319, PMID:15595939, PMID:15769473, PMID:15798777, PMID:16114042, PMID:16225402, PMID:16554133, PMID:16981987, PMID:17287951, PMID:17304050, PMID:18032745, PMID:18397877, PMID:18414213, PMID:18772611, PMID:18830229, PMID:18854862, PMID:19139070, PMID:19175396, PMID:19254590, PMID:19419980, PMID:19747374, PMID:19763152, PMID:19918125, PMID:20082901, PMID:20165957, PMID:20185476, PMID:20307669, PMID:20399389, PMID:20547222, PMID:20633017, PMID:20877415, PMID:21309039, PMID:21510812, PMID:21520333, PMID:21624971, PMID:21811971, PMID:22161988, PMID:22406018, PMID:22490766, PMID:22558107, PMID:22703879, PMID:22707517, PMID:22791573, PMID:22867869, PMID:22903760, PMID:22923433, PMID:22995991, PMID:23254740, PMID:23341583, PMID:23389244, PMID:23401075, PMID:23514105, PMID:23647917, PMID:23728315, PMID:23857276, PMID:23999528, PMID:24033266, PMID:24633152, PMID:24714658, PMID:24728327, PMID:24789117, PMID:25077650, PMID:25326635, PMID:25498131, PMID:25525159, PMID:25741868, PMID:25782670, PMID:25889454, PMID:25900779, PMID:25927202, PMID:26226092, PMID:26231267, PMID:26332594, PMID:26467025, PMID:26540169, PMID:26563443, PMID:26615199, PMID:27061015, PMID:27153395, PMID:27174333, PMID:27406250, PMID:27425891, PMID:27470532, PMID:27494029, PMID:27600092, PMID:28065512, PMID:28087349, PMID:28215400, PMID:28250423, PMID:28492532, PMID:28762286, PMID:28968464, PMID:29101226, PMID:29127155, PMID:29196670, PMID:29221145, PMID:29261847, PMID:29286531, PMID:29432982, PMID:29458892, PMID:29476190, PMID:29619247, PMID:29706646, PMID:29740858, PMID:29909963, PMID:29932062, PMID:30311386, PMID:32238909, PMID:26019056 RGD:11570507 NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:25741868 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
G Vav2 vav guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:5,811,504...5,976,311
Ensembl chr 3:5,811,504...5,976,244
JBrowse link
G Wdr5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 1 ClinVar PMID:28492532 NCBI chr 3:6,061,892...6,080,724
Ensembl chr 3:6,061,940...6,080,680
JBrowse link
tuberous sclerosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antkmt adenine nucleotide translocase lysine methyltransferase ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:15,160,037...15,161,895
Ensembl chr10:15,159,803...15,161,938
JBrowse link
G Baiap3 BAI1-associated protein 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:14,601,133...14,613,881
Ensembl chr10:14,599,197...14,613,878
JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:14,730,932...14,789,201
Ensembl chr10:14,730,941...14,788,617
JBrowse link
G Ccdc154 coiled-coil domain containing 154 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:14,518,240...14,529,920
Ensembl chr10:14,519,164...14,528,277
JBrowse link
G Ccdc78 coiled-coil domain containing 78 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:15,155,839...15,160,039
Ensembl chr10:15,156,207...15,159,894
JBrowse link
G Chtf18 chromosome transmission fidelity factor 18 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:15,090,762...15,098,825
Ensembl chr10:15,090,316...15,098,791
JBrowse link
G Ciao3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:15,143,732...15,152,706
Ensembl chr10:15,143,713...15,153,396
JBrowse link
G Clcn7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:14,492,844...14,518,167
Ensembl chr10:14,492,844...14,516,894
JBrowse link
G Cramp1 cramped chromatin regulator homolog 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,324,799...14,373,413
Ensembl chr10:14,326,802...14,373,334
JBrowse link
G Eme2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,253,552...14,257,017
Ensembl chr10:14,254,252...14,256,930
JBrowse link
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,214,518...14,215,957
Ensembl chr10:14,214,519...14,215,957
JBrowse link
G Fbxl16 F-box and leucine-rich repeat protein 16 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:15,176,489...15,188,729
Ensembl chr10:15,183,803...15,186,978
JBrowse link
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,059,347...14,061,703
Ensembl chr10:14,059,347...14,061,703
JBrowse link
G Gng13 G protein subunit gamma 13 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:15,088,935...15,090,839
Ensembl chr10:15,088,935...15,090,839
JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:14,593,050...14,597,995
Ensembl chr10:14,593,056...14,597,969
JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,215,913...14,230,506
Ensembl chr10:14,216,155...14,230,515
JBrowse link
G Haghl hydroxyacylglutathione hydrolase-like ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:15,152,736...15,157,221
Ensembl chr10:15,152,709...15,155,412
JBrowse link
G Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,122,856...14,128,984
Ensembl chr10:14,122,878...14,128,983
JBrowse link
G Ifng interferon gamma ISO OMIM NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,373,668...14,461,509
Ensembl chr10:14,373,679...14,461,160
JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597
JBrowse link
G Jmjd8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:15,195,954...15,198,870
Ensembl chr10:15,195,969...15,198,868
JBrowse link
G Jpt2 Jupiter microtubule associated homolog 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,304,108...14,324,170
Ensembl chr10:14,304,104...14,324,211
JBrowse link
G Lmf1 lipase maturation factor 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:14,945,185...15,031,855
Ensembl chr10:14,945,265...15,031,942
JBrowse link
G Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,259,394...14,299,276
Ensembl chr10:14,260,787...14,299,167
JBrowse link
G Mcrip2 MAPK regulated co-repressor interacting protein 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:15,230,801...15,235,740
Ensembl chr10:15,230,801...15,235,740
JBrowse link
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,174,645...14,206,026
Ensembl chr10:14,174,732...14,206,025
JBrowse link
G Metrn meteorin, glial cell differentiation regulator ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:15,164,439...15,166,457
Ensembl chr10:15,164,439...15,166,457
JBrowse link
G Mettl26 methyltransferase like 26 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:15,239,753...15,255,054
Ensembl chr10:15,241,590...15,252,413
JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,257,001...14,258,132
Ensembl chr10:14,257,001...14,258,132
JBrowse link
G Msln mesothelin ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:15,119,700...15,129,129
Ensembl chr10:15,119,663...15,125,408
JBrowse link
G Msrb1 methionine sulfoxide reductase B1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,105,750...14,111,463
Ensembl chr10:14,105,750...14,111,463
JBrowse link
G Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,090,128...14,092,289
Ensembl chr10:14,090,128...14,092,289
JBrowse link
G Nme3 NME/NM23 nucleoside diphosphate kinase 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,258,232...14,259,365
Ensembl chr10:14,258,380...14,259,336
JBrowse link
G Noxo1 NADPH oxidase organizer 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,062,331...14,066,918
Ensembl chr10:14,062,331...14,066,918
JBrowse link
G Npw neuropeptide W ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,021,187...14,022,452
Ensembl chr10:14,021,187...14,022,452
JBrowse link
G Nthl1 nth-like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:13,996,660...14,002,827
Ensembl chr10:13,996,645...14,002,910
JBrowse link
G Nubp2 nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,244,201...14,247,930
Ensembl chr10:14,244,203...14,247,886
JBrowse link
G Pigq phosphatidylinositol glycan anchor biosynthesis, class Q ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:15,289,530...15,305,593
Ensembl chr10:15,289,536...15,305,549
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:9328481, PMID:10205261, PMID:11112665, PMID:16114042, PMID:17287951, PMID:21520333, PMID:24789117, PMID:27406250, PMID:28492532 NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
JBrowse link
G Ptx4 pentraxin 4 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:14,481,044...14,486,277
Ensembl chr10:14,481,393...14,485,916
JBrowse link
G Rab40c Rab40c, member RAS oncogene family ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:15,247,913...15,283,111
Ensembl chr10:15,247,914...15,282,951
JBrowse link
G RGD1565784 RGD1565784 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:14,543,196...14,544,498
Ensembl chr10:14,543,200...14,545,000
JBrowse link
G Rhbdl1 rhomboid like 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:15,201,503...15,205,856
Ensembl chr10:15,201,503...15,204,143
JBrowse link
G Rhot2 ras homolog family member T2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:15,205,943...15,211,739
Ensembl chr10:15,205,534...15,211,325
JBrowse link
G Rnf151 ring finger protein 151 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,083,538...14,088,011
Ensembl chr10:14,083,538...14,085,855
JBrowse link
G Rpl3l ribosomal protein L3-like ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,094,769...14,105,312
Ensembl chr10:14,094,754...14,105,308
JBrowse link
G Rps2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,088,171...14,090,020
Ensembl chr10:14,088,319...14,089,979
JBrowse link
G Rpusd1 RNA pseudouridine synthase domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:15,099,104...15,102,968
Ensembl chr10:15,099,009...15,102,960
JBrowse link
G Slc9a3r2 SLC9A3 regulator 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,003,330...14,015,066
Ensembl chr10:14,003,320...14,013,870
JBrowse link
G Sox8 SRY-box transcription factor 8 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:14,932,348...14,937,336
Ensembl chr10:14,932,348...14,937,336
JBrowse link
G Spsb3 splA/ryanodine receptor domain and SOCS box containing 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,248,199...14,253,815
Ensembl chr10:14,248,399...14,253,815
JBrowse link
G Sstr5 somatostatin receptor 5 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:14,847,749...14,853,827
Ensembl chr10:14,847,749...14,853,827
JBrowse link
G Stub1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:15,197,754...15,200,035
Ensembl chr10:15,197,803...15,200,117
JBrowse link
G Syngr3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,051,413...14,056,169
Ensembl chr10:14,051,415...14,056,169
JBrowse link
G Tbl3 transducin (beta)-like 3 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,066,984...14,072,197
Ensembl chr10:14,066,948...14,072,230
JBrowse link
G Telo2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:14,461,581...14,476,812
Ensembl chr10:14,461,839...14,476,785
JBrowse link
G Tmem204 transmembrane protein 204 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,417,608...14,446,272
Ensembl chr10:14,417,609...14,443,010
JBrowse link
G Tpsab1 tryptase alpha/beta 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:14,701,253...14,703,668
Ensembl chr10:14,701,253...14,703,668
JBrowse link
G Tpsb2 tryptase beta 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:14,722,672...14,724,464
Ensembl chr10:14,722,756...14,724,600
JBrowse link
G Tpsg1 tryptase gamma 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:14,724,531...14,731,259
Ensembl chr10:14,727,180...14,731,086
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:613254
OMIM
ClinVar
CTD
PMID:1112665, PMID:1870099, PMID:2139039, PMID:4461062, PMID:5279523, PMID:7558029, PMID:7581393, PMID:7823706, PMID:8519695, PMID:8634701, PMID:8799170, PMID:8824881, PMID:8825048, PMID:9242607, PMID:9285776, PMID:9302281, PMID:9328481, PMID:9361032, PMID:9412784, PMID:9452050, PMID:9463313, PMID:9813776, PMID:9829910, PMID:9881533, PMID:10069705, PMID:10090883, PMID:10205261, PMID:10206124, PMID:10215407, PMID:10330349, PMID:10533066, PMID:10533067, PMID:10570911, PMID:10577937, PMID:10607950, PMID:10633137, PMID:10732801, PMID:10735580, PMID:10823953, PMID:10905251, PMID:10942116, PMID:11068191, PMID:11112665, PMID:11208653, PMID:11281455, PMID:11290735, PMID:11403047, PMID:11437991, PMID:11520734, PMID:11521203, PMID:11603814, PMID:11741832, PMID:11741833, PMID:11810271, PMID:11829138, PMID:12015165, PMID:12062115, PMID:12086608, PMID:12111193, PMID:12136241, PMID:12235314, PMID:12511557, PMID:12752578, PMID:12906785, PMID:12913212, PMID:14508401, PMID:14641237, PMID:14718525, PMID:14756965, PMID:14993219, PMID:15024740, PMID:15072102, PMID:15121792, PMID:15121797, PMID:15141215, PMID:15483652, PMID:15595939, PMID:15798777, PMID:15851026, PMID:15874888, PMID:15963462, PMID:16032769, PMID:16042315, PMID:16114042, PMID:16129702, PMID:16237225, PMID:16417848, PMID:16464865, PMID:16554133, PMID:16835931, PMID:16877242, PMID:16981987, PMID:17003820, PMID:17005952, PMID:17120248, PMID:17287951, PMID:17304050, PMID:17379185, PMID:17536269, PMID:17671177, PMID:18032745, PMID:18230340, PMID:18302728, PMID:18308511, PMID:18411301, PMID:18414213, PMID:18466115, PMID:18550814, PMID:18695678, PMID:18722871, PMID:18772611, PMID:18792920, PMID:18854862, PMID:19166931, PMID:19254590, PMID:19258292, PMID:19259131, PMID:19369101, PMID:19419980, PMID:19747374, PMID:20108343, PMID:20165957, PMID:20399389, PMID:20498439, PMID:20633017, PMID:21115397, PMID:21182496, PMID:21252315, PMID:21309039, PMID:21332470, PMID:21403110, PMID:21407264, PMID:21418539, PMID:21510812, PMID:21520333, PMID:21541650, PMID:21567926, PMID:21572417, PMID:21624971, PMID:21811971, PMID:21819393, PMID:21846442, PMID:21910228, PMID:22161988, PMID:22169896, PMID:22490766, PMID:22495309, PMID:22552000, PMID:22558107, PMID:22703879, PMID:22805177, PMID:22867869, PMID:22903760, PMID:22995991, PMID:23006675, PMID:23217510, PMID:23254740, PMID:23389244, PMID:23504366, PMID:23514105, PMID:23955302, PMID:24033266, PMID:24055113, PMID:24271014, PMID:24412076, PMID:24425785, PMID:24668795, PMID:24728327, PMID:24770934, PMID:24789117, PMID:25039834, PMID:25058500, PMID:25088526, PMID:25203624, PMID:25231023, PMID:25281918, PMID:25338684, PMID:25363768, PMID:25432535, PMID:25498131, PMID:25525159, PMID:25599672, PMID:25637381, PMID:25664948, PMID:25741868, PMID:25782670, PMID:25862857, PMID:25900779, PMID:25911330, PMID:25927202, PMID:26155992, PMID:26332594, PMID:26467025, PMID:26489027, PMID:26540169, PMID:26563443, PMID:26633542, PMID:26703369, PMID:26706013, PMID:26822237, PMID:27078846, PMID:27153395, PMID:27174333, PMID:27176796, PMID:27406250, PMID:27493206, PMID:27494029, PMID:27600092, PMID:27854218, PMID:27859028, PMID:27884173, PMID:28065512, PMID:28087349, PMID:28127866, PMID:28149746, PMID:28178598, PMID:28211972, PMID:28215400, PMID:28250423, PMID:28397210, PMID:28407358, PMID:28409891, PMID:28492532, PMID:28505269, PMID:28600779, PMID:28643795, PMID:28659645, PMID:28687356, PMID:28873162, PMID:28968464, PMID:29101226, PMID:29167182, PMID:29196670, PMID:29271092, PMID:29308833, PMID:29344138, PMID:29432982, PMID:29476190, PMID:29500070, PMID:29642139, PMID:29655203, PMID:29684080, PMID:29740858, PMID:29778030, PMID:29801666, PMID:29868112, PMID:29926239, PMID:29932062, PMID:30024541, PMID:30311386, PMID:30763456, PMID:32581362, PMID:32860008 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
G Tsr3 TSR3 ribosome maturation factor ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:14,598,014...14,600,576
Ensembl chr10:14,598,014...14,600,576
JBrowse link
G Ube2i ubiquitin-conjugating enzyme E2I ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:14,618,615...14,639,274
Ensembl chr10:14,620,531...14,630,151
JBrowse link
G Unkl unk like zinc finger ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:14,547,126...14,593,090
Ensembl chr10:14,547,172...14,590,762
JBrowse link
G Wdr24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:15,191,078...15,195,860
Ensembl chr10:15,191,078...15,195,860
JBrowse link
G Wdr90 WD repeat domain 90 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:15,211,660...15,229,477
Ensembl chr10:15,211,960...15,228,235
JBrowse link
G Wfikkn1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:28492532, PMID:29932062 NCBI chr10:15,243,429...15,245,757
Ensembl chr10:15,243,429...15,245,757
JBrowse link
G Zfp598 zinc finger protein 598 ISO ClinVar Annotator: match by term: Tuberous sclerosis 2 ClinVar PMID:16114042, PMID:17287951, PMID:20498439, PMID:28492532, PMID:29932062 NCBI chr10:14,035,114...14,047,100
Ensembl chr10:14,035,149...14,047,096
JBrowse link

Term paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.