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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:PTEN hamartoma tumor syndrome
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Accession:DOID:0080191 term browser browse the term
Definition:A syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene. (DO)
Synonyms:exact_synonym: CS;   Multiple Hamartoma Syndrome;   PTEN hamartoma tumor syndrome with granular cell tumor;   multiple hamartoma syndromes
 narrow_synonym: Colorectal hamartomatous polyposis and ganglioneuromatosis;   MHAM DYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM;   PROTEUS-like syndrome;   cerebellar granule cell hypertrophy and megalencephaly;   cerebelloparenchymal disorder VI
 primary_id: MESH:D006223
 alt_id: MESH:C566636;   OMIA:001515
 xref: GARD:12800
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr14:100,868,145...100,886,732
Ensembl chr14:100,867,733...100,886,713
JBrowse link
G ADIRF adipogenesis regulatory factor ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:28492532 NCBI chr14:87,928,721...87,930,935
Ensembl chr14:87,928,721...87,930,937
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 chr14:100,747,955...100,772,412
Ensembl chr14:100,747,957...100,772,362
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 chr14:99,802,939...99,885,562
Ensembl chr14:99,790,300...99,885,160
JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:28492532 NCBI chr14:87,743,270...87,891,790
Ensembl chr14:87,742,459...87,891,793
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 chr14:87,940,256...87,943,535 JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9002682 NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,710...131,579,703
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:28492532 NCBI chr14:87,968,850...88,005,375
Ensembl chr14:87,968,850...88,005,550
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 chr14:99,923,996...99,928,887 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 chr14:100,716,038...100,748,916
Ensembl chr14:100,726,480...100,748,300
JBrowse link
G LOC100156277 lipase 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 chr14:100,678,863...100,710,229
Ensembl chr14:100,692,254...100,711,638
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 chr14:99,574,426...99,628,388
Ensembl chr14:99,574,440...99,628,175
JBrowse link
G MMRN2 multimerin 2 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:28492532 NCBI chr14:87,891,585...87,916,327
Ensembl chr14:87,896,069...87,916,342
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 chr14:99,718,299...99,816,346
Ensembl chr14:99,685,578...99,808,389
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 chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,277,232
JBrowse link
G PTEN phosphatase and tensin homolog susceptibility ISO DNA:deletion:exon:c.950_953delTACT (human)
ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, nonsense mutations:cds:p.G129E, p.E157X, p.R233X (human)
mRNA:spice variants:lymphocyte (human)
DNA:deletions:multiple (human)
RGD
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:9697695, 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:17341483, 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:24102544, 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: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: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 RGD:12802356, RGD:12802361, RGD:12859035, RGD:12859041, RGD:1302552 NCBI chr14:99,929,590...100,021,619 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 chr14:100,312,592...100,604,953
Ensembl chr14:100,319,225...100,604,945
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 9:39,790,654...39,803,602
Ensembl chr 9:39,790,561...39,803,946
JBrowse link
G SHLD2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:28492532 NCBI chr14:88,005,599...88,121,155
Ensembl chr14:88,005,590...88,121,383
JBrowse link
G SNCG synuclein gamma ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:28492532 NCBI chr14:87,916,353...87,922,111
Ensembl chr14:87,904,773...87,922,112
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 chr14:100,798,096...100,859,576
Ensembl chr14:100,798,088...100,872,434
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 chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,277,232
JBrowse link
G PTEN phosphatase and tensin homolog ISO 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
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 chr14:99,929,590...100,021,619 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 9:39,790,654...39,803,602
Ensembl chr 9:39,790,561...39,803,946
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 chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,478,882
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 chr14:99,923,996...99,928,887 JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Cowden disease
ClinVar Annotator: match by term: Cowden syndrome
ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar Annotator: match by term: Lhermitte-Duclos Disease
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 chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,277,232
JBrowse link
G PTEN phosphatase and tensin homolog ISO OMIM NCBI chr14:99,929,590...100,021,619 JBrowse link
G RINT1 RAD50 interactor 1 ISO ClinVar Annotator: match by term: Cowden syndrome ClinVar PMID:28492532 NCBI chr 9:105,392,853...105,430,198
Ensembl chr 9:105,392,864...105,430,160
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:18753105, PMID:19351833, PMID:19368708, PMID:19399650, PMID:19454582, PMID:19802898, PMID:21979946, PMID:22517554, PMID:22703879, PMID:22995991, PMID:23072324, PMID:23660872, PMID:23666964, PMID:23735539, PMID:24033266, PMID:24659481, PMID:24728327, PMID:25047027, PMID:25333069, PMID:25694510, PMID:25741868, PMID:26092435, PMID:26269449, PMID:26729832, PMID:26960314, PMID:27604842, PMID:28229225, PMID:28492532 NCBI chr 6:75,648,362...75,678,111
Ensembl chr 6:75,648,215...75,678,378
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 9:39,790,654...39,803,602
Ensembl chr 9:39,790,561...39,803,946
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 chr14:99,923,996...99,928,887 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 OMIM NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,277,232
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 OMIM
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 OMIM NCBI chr17:26,760,048...26,801,091
Ensembl chr17:26,760,046...26,801,155
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 chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,277,232
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 chr14:99,929,590...100,021,619 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 9:39,790,654...39,803,602
Ensembl chr 9:39,790,561...39,803,946
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
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 OMIM
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 chr14:99,929,590...100,021,619 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12617
    disease of cellular proliferation 5453
      Multiple Primary Neoplasms 138
        PTEN hamartoma tumor syndrome 26
          Bannayan-Riley-Ruvalcaba syndrome 3
          Cerebellar Granule Cell Hypertrophy and Megalencephaly 0
          Cerebelloparenchymal Disorder VI 0
          Cowden syndrome + 9
          Cowden-Like Syndrome 3
          Graham Boyle Troxell Syndrome 0
          Heart Defect, Tongue Hamartoma and Polysyndactyly 0
          Multiple Basal Cell Carcinoma 0
          Proteus syndrome + 2
          Sacral Hemangiomas Multiple Congenital Abnormalities 0
Path 2
Term Annotations click to browse term
  disease 12617
    Developmental Diseases 8914
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7789
        genetic disease 7317
          Hereditary Neoplastic Syndromes 766
            PTEN hamartoma tumor syndrome 26
              Bannayan-Riley-Ruvalcaba syndrome 3
              Cerebellar Granule Cell Hypertrophy and Megalencephaly 0
              Cerebelloparenchymal Disorder VI 0
              Cowden syndrome + 9
              Cowden-Like Syndrome 3
              Graham Boyle Troxell Syndrome 0
              Heart Defect, Tongue Hamartoma and Polysyndactyly 0
              Multiple Basal Cell Carcinoma 0
              Proteus syndrome + 2
              Sacral Hemangiomas Multiple Congenital Abnormalities 0
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.