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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 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
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
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
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
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of cellular proliferation 5918
      Multiple Primary Neoplasms 142
        PTEN hamartoma tumor syndrome 27
          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
          Multiple Basal Cell Carcinoma 0
          Proteus syndrome + 2
          Sacral Hemangiomas Multiple Congenital Abnormalities 0
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          Hereditary Neoplastic Syndromes 810
            PTEN hamartoma tumor syndrome 27
              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
              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.