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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, aorta ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:18456716, PMID:21926107, PMID:22382802, PMID:23132533, PMID:23335809, PMID:28492532 NCBI chr19:34,240,336...34,255,585
Ensembl chr19:34,241,090...34,255,590
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 chr19:34,122,549...34,166,041
Ensembl chr19:34,121,469...34,166,053
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 chr19:32,672,558...32,739,787
Ensembl chr19:32,671,638...32,739,786
JBrowse link
G Bmpr1a bone morphogenetic protein receptor, type 1A ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:28492532 NCBI chr14:34,411,061...34,503,336
Ensembl chr14:34,410,734...34,503,341
JBrowse link
G Fam25c family with sequence similarity 25, member C ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:28492532 NCBI chr14:34,351,882...34,358,339
Ensembl chr14:34,351,881...34,355,433
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9002682 NCBI chr 7:130,162,451...130,266,808
Ensembl chr 7:130,162,451...133,123,350
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:28492532 NCBI chr14:34,310,727...34,345,033
Ensembl chr14:34,310,727...34,345,265
JBrowse link
G Gm36566 predicted gene, 36566 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 chr19:32,754,447...32,757,412 JBrowse link
G Lipf lipase, gastric 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 chr19:33,961,248...33,976,813
Ensembl chr19:33,961,187...33,976,810
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 chr19:34,008,254...34,047,903
Ensembl chr19:34,008,290...34,047,835
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 chr19:34,100,943...34,122,687
Ensembl chr19:34,100,933...34,122,687
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 chr19:34,067,058...34,085,946
Ensembl chr19:34,067,358...34,084,918
JBrowse link
G Minpp1 multiple inositol polyphosphate histidine 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 chr19:32,485,769...32,515,370
Ensembl chr19:32,485,769...32,515,364
JBrowse link
G Mmrn2 multimerin 2 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:28492532 NCBI chr14:34,375,504...34,404,287
Ensembl chr14:34,375,465...34,404,287
JBrowse link
G Ms4a6d membrane-spanning 4-domains, subfamily A, member 6D ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:28492532 NCBI chr19:11,586,606...11,604,804
Ensembl chr19:11,586,604...11,604,849
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 chr19:32,595,669...32,667,187
Ensembl chr19:32,595,790...32,667,187
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 3:32,397,065...32,466,112
Ensembl chr 3:32,397,671...32,468,486
JBrowse link
G Pten phosphatase and tensin homolog susceptibility IMP
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: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, PMID:9697695, PMID:24102544, PMID:16773562, PMID:9140396, PMID:17341483 RGD:1302552, RGD:12859041, RGD:12859035, RGD:12802361, RGD:12802356 NCBI chr19:32,757,577...32,826,160
Ensembl chr19:32,757,497...32,826,160
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 chr19:33,137,740...33,392,295
Ensembl chr19:33,137,747...33,392,295
JBrowse link
G Sdhd succinate dehydrogenase complex, subunit D, integral membrane protein ISO ClinVar Annotator: match by term: Multiple hamartoma syndrome ClinVar PMID:18678321, PMID:21565294, PMID:21979946, PMID:28492532, PMID:29386252 NCBI chr 9:50,596,340...50,603,849
Ensembl chr 9:50,596,357...50,603,812
JBrowse link
G Shld2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:28492532 NCBI chr14:34,236,948...34,310,651
Ensembl chr14:34,237,033...34,310,493
JBrowse link
G Sncg synuclein, gamma ISO ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome ClinVar PMID:28492532 NCBI chr14:34,370,274...34,374,669
Ensembl chr14:34,370,274...34,374,789
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 chr19:34,190,378...34,240,333
Ensembl chr19:34,192,229...34,240,333
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 3:32,397,065...32,466,112
Ensembl chr 3:32,397,671...32,468,486
JBrowse link
G Pten phosphatase and tensin homolog IEA
ISO
ISS
OMIM:153480
ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME
ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA
OMIM:158350
ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome
MouseDO
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 chr19:32,757,577...32,826,160
Ensembl chr19:32,757,497...32,826,160
JBrowse link
G Sdhd succinate dehydrogenase complex, subunit D, integral membrane protein ISO ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA ClinVar PMID:18678321, PMID:21565294, PMID:21979946, PMID:28492532, PMID:29386252 NCBI chr 9:50,596,340...50,603,849
Ensembl chr 9:50,596,357...50,603,812
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 chr11:16,752,203...16,913,907
Ensembl chr11:16,752,203...16,918,158
JBrowse link
G Gm36566 predicted gene, 36566 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 chr19:32,754,447...32,757,412 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 3:32,397,065...32,466,112
Ensembl chr 3:32,397,671...32,468,486
JBrowse link
G Pten phosphatase and tensin homolog ISO
IEA
ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar Annotator: match by term: Cowden disease
ClinVar Annotator: match by term: Lhermitte-Duclos disease
OMIM:158350 | OMIM:612359 | OMIM:615106 | OMIM:615107 | OMIM:615108 | OMIM:615109
ClinVar
OMIM
MouseDO
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: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: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 chr19:32,757,577...32,826,160
Ensembl chr19:32,757,497...32,826,160
JBrowse link
G Rint1 RAD50 interactor 1 ISO ClinVar Annotator: match by term: Cowden syndrome ClinVar PMID:28492532 NCBI chr 5:23,787,698...23,823,584
Ensembl chr 5:23,787,711...23,820,369
JBrowse link
G Sdhb succinate dehydrogenase complex, subunit B, iron sulfur (Ip) 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 4:140,961,271...140,979,198
Ensembl chr 4:140,961,203...140,979,193
JBrowse link
G Sdhd succinate dehydrogenase complex, subunit D, integral membrane protein ISO ClinVar Annotator: match by term: Cowden disease ClinVar PMID:18678321, PMID:21565294, PMID:21979946, PMID:28492532, PMID:29386252 NCBI chr 9:50,596,340...50,603,849
Ensembl chr 9:50,596,357...50,603,812
JBrowse link
Cowden Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gm36566 predicted gene, 36566 ISO OMIM NCBI chr19:32,754,447...32,757,412 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 3:32,397,065...32,466,112
Ensembl chr 3:32,397,671...32,468,486
JBrowse link
Cowden Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 thymoma viral proto-oncogene 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 chr12:112,653,821...112,674,884
Ensembl chr12:112,653,821...112,674,884
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 2:144,556,229...144,590,753
Ensembl chr 2:144,556,229...144,590,749
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 3:32,397,065...32,466,112
Ensembl chr 3:32,397,671...32,468,486
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 chr19:32,757,577...32,826,160
Ensembl chr19:32,757,497...32,826,160
JBrowse link
G Sdhd succinate dehydrogenase complex, subunit D, integral membrane protein ISO ClinVar Annotator: match by term: Cowden syndrome 2 ClinVar PMID:18678321, PMID:21565294, PMID:21979946, PMID:28492532, PMID:29386252 NCBI chr 9:50,596,340...50,603,849
Ensembl chr 9:50,596,357...50,603,812
JBrowse link
Macrocephaly Mesodermal Hamartoma Spectrum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 thymoma viral proto-oncogene 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 chr12:112,653,821...112,674,884
Ensembl chr12:112,653,821...112,674,884
JBrowse link
Proteus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 thymoma viral proto-oncogene 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 chr12:112,653,821...112,674,884
Ensembl chr12:112,653,821...112,674,884
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 chr19:32,757,577...32,826,160
Ensembl chr19:32,757,497...32,826,160
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13334
    disease of cellular proliferation 5752
      Multiple Primary Neoplasms 144
        PTEN hamartoma tumor syndrome 28
          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 13334
    Developmental Diseases 9342
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8175
        genetic disease 7687
          Hereditary Neoplastic Syndromes 817
            PTEN hamartoma tumor syndrome 28
              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.