GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000082 |
Process |
G1/S transition of mitotic cell cycle |
TAS |
8681378 |
GO:0000122 |
Process |
Negative regulation of transcription by RNA polymerase II |
IEA |
|
GO:0000139 |
Component |
Golgi membrane |
IEA |
|
GO:0000165 |
Process |
MAPK cascade |
TAS |
|
GO:0000209 |
Process |
Protein polyubiquitination |
IDA |
14528312, 19261606 |
GO:0000922 |
Component |
Spindle pole |
IDA |
23213400 |
GO:0001831 |
Process |
Trophectodermal cellular morphogenesis |
IEA |
|
GO:0004842 |
Function |
Ubiquitin-protein transferase activity |
IDA |
15983046, 19261606, 19782033, 20389280 |
GO:0005112 |
Function |
Notch binding |
IPI |
25401743 |
GO:0005515 |
Function |
Protein binding |
IPI |
12609982, 14528312, 18397884, 18573101, 18775313, 18826954, 19261606, 19427028, 19617556, 20389280, 21145461, 21577200, 21778237, 21828050, 21988832, 22466964, 22748208, 22939624, 23213400, 23563313, 23665031, 23776465, 24192928, 25270598, 25416956, 25502805, 26334369, 26906416, 269 |
GO:0005634 |
Component |
Nucleus |
IDA |
23213400 |
GO:0005654 |
Component |
Nucleoplasm |
TAS |
|
GO:0005737 |
Component |
Cytoplasm |
IDA |
28395323 |
GO:0005813 |
Component |
Centrosome |
IDA |
23213400 |
GO:0005827 |
Component |
Polar microtubule |
IDA |
19995937 |
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0005886 |
Component |
Plasma membrane |
IDA |
19617556 |
GO:0006511 |
Process |
Ubiquitin-dependent protein catabolic process |
IDA |
25401743, 27561354 |
GO:0006513 |
Process |
Protein monoubiquitination |
IDA |
22358839 |
GO:0006888 |
Process |
Endoplasmic reticulum to Golgi vesicle-mediated transport |
IDA |
22358839 |
GO:0007080 |
Process |
Mitotic metaphase plate congression |
IMP |
17543862, 19995937 |
GO:0007229 |
Process |
Integrin-mediated signaling pathway |
ISS |
|
GO:0007369 |
Process |
Gastrulation |
IEA |
|
GO:0008284 |
Process |
Positive regulation of cell population proliferation |
TAS |
9733711 |
GO:0016020 |
Component |
Membrane |
HDA |
19946888 |
GO:0016055 |
Process |
Wnt signaling pathway |
IEA |
|
GO:0016477 |
Process |
Cell migration |
IMP |
19782033 |
GO:0016567 |
Process |
Protein ubiquitination |
IBA |
21873635 |
GO:0016567 |
Process |
Protein ubiquitination |
IDA |
17543862, 19782033, 19995937, 20389280, 23213400 |
GO:0017145 |
Process |
Stem cell division |
ISS |
|
GO:0030030 |
Process |
Cell projection organization |
IEA |
|
GO:0030332 |
Function |
Cyclin binding |
IEA |
|
GO:0031145 |
Process |
Anaphase-promoting complex-dependent catabolic process |
IDA |
10500095 |
GO:0031208 |
Function |
POZ domain binding |
IDA |
14528312, 19261606 |
GO:0031398 |
Process |
Positive regulation of protein ubiquitination |
IGI |
24844779 |
GO:0031461 |
Component |
Cullin-RING ubiquitin ligase complex |
IBA |
21873635 |
GO:0031463 |
Component |
Cul3-RING ubiquitin ligase complex |
IDA |
14528312, 15983046, 17543862, 19158078, 19261606, 19782033, 19995937, 20389280, 22358839, 22578813, 23453970, 23455478, 23576762, 24768539, 26399832 |
GO:0031625 |
Function |
Ubiquitin protein ligase binding |
IBA |
21873635 |
GO:0031625 |
Function |
Ubiquitin protein ligase binding |
IPI |
14528312 |
GO:0031648 |
Process |
Protein destabilization |
IGI |
24844779 |
GO:0032467 |
Process |
Positive regulation of cytokinesis |
IMP |
19261606 |
GO:0035024 |
Process |
Negative regulation of Rho protein signal transduction |
IMP |
19782033 |
GO:0036126 |
Component |
Sperm flagellum |
IDA |
28395323 |
GO:0040016 |
Process |
Embryonic cleavage |
ISS |
|
GO:0043149 |
Process |
Stress fiber assembly |
IMP |
19782033 |
GO:0043161 |
Process |
Proteasome-mediated ubiquitin-dependent protein catabolic process |
IDA |
19261606, 19782033, 20389280 |
GO:0043687 |
Process |
Post-translational protein modification |
TAS |
|
GO:0044346 |
Process |
Fibroblast apoptotic process |
IEA |
|
GO:0045842 |
Process |
Positive regulation of mitotic metaphase/anaphase transition |
IMP |
17543862 |
GO:0048208 |
Process |
COPII vesicle coating |
IMP |
22358839 |
GO:0051865 |
Process |
Protein autoubiquitination |
IDA |
14528312 |
GO:0061630 |
Function |
Ubiquitin protein ligase activity |
IDA |
14528312 |
GO:0070062 |
Component |
Extracellular exosome |
HDA |
19056867 |
GO:0071630 |
Process |
Nuclear protein quality control by the ubiquitin-proteasome system |
IDA |
27561354 |
GO:0072576 |
Process |
Liver morphogenesis |
IEA |
|
GO:0072686 |
Component |
Mitotic spindle |
IDA |
23213400 |
GO:0090090 |
Process |
Negative regulation of canonical Wnt signaling pathway |
TAS |
|
GO:0097193 |
Process |
Intrinsic apoptotic signaling pathway |
TAS |
8681378 |
GO:1901992 |
Process |
Positive regulation of mitotic cell cycle phase transition |
IMP |
23213400 |
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Hypertension |
Hypertensive disease |
rs13306026 |
|
Melanoma |
melanoma |
rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050 View all (64 more) |
22535842 |
Multiple congenital anomalies |
Multiple congenital anomalies |
rs1057517732 |
18687424, 22495309, 23676014, 15071497, 10500095, 20065088, 16162871, 27824329, 21554755, 3002982, 22914163, 15511641, 24266877, 24267886, 23665959, 25969726, 18927510, 16595883, 15843622, 20880695, 24959344, 22266938, 17559828, 25363760, 15136734 View all (10 more) |
Neurodevelopmental disorders |
Neurodevelopmental Disorders |
rs869312846, rs869312840, rs869312848, rs869312849, rs869312845, rs886041956, rs1064795110, rs1555762734, rs1555764992, rs1568512728, rs1568532361, rs1595472741, rs1595472764, rs1595476797, rs1016320330, rs1595127294, rs1600392059 View all (2 more) |
28191889 |
Prostate cancer |
Malignant neoplasm of prostate |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
29610475 |
Pseudohypoaldosteronism |
Pseudohypoaldosteronism, Pseudohypoaldosteronism, Type I, Autosomal Dominant, Pseudohypoaldosteronism, Type II, Pseudohypoaldosteronism, Type IIa, PSEUDOHYPOALDOSTERONISM, TYPE IIE, Pseudohypoaldosteronism type 2E |
rs137853092, rs137853093, rs137853094, rs121912562, rs1560949756, rs1560910156, rs121912563, rs1560735659, rs121912564, rs121912565, rs121912566, rs121912567, rs121912568, rs121912569, rs121912570, rs121912571, rs121912572, rs121912573, rs121912574, rs1596779402, rs1567262640, rs1596779433, rs199469656, rs199469639, rs199469641, rs199469636, rs199469638, rs199469640, rs199469635, rs199469632, rs387907155, rs562736621, rs387907156, rs199469651, rs199469654, rs199469650, rs199469649, rs199469653, rs199469652, rs199469655, rs199469658, rs199469657, rs199469659, rs199469660, rs199469661, rs199469644, rs199469647, rs199469648, rs199469633, rs199469623, rs199469626, rs199469625, rs199469642, rs199469624, rs199469634, rs199469637, rs199469627, rs199469629, rs199469631, rs879255348, rs886038765, rs1131691921, rs1553523940, rs748573472, rs1553535841, rs1553986377, rs1560928649, rs550424284 View all (53 more) |
22266938 |
Schizophrenia |
Schizophrenia |
rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 View all (12 more) |
30285260, 25056061, 29483656, 26198764, 28991256, 31268507 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Neurodevelopmental Disorders |
complex neurodevelopmental disorder |
|
|
GenCC |
Alzheimer disease |
Alzheimer disease |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenocarcinoma |
Associate
|
31828882 |
Adenocarcinoma of Lung |
Associate
|
34617407 |
Alzheimer Disease |
Associate
|
33754896 |
Anorexia Nervosa |
Associate
|
24514567 |
Anxiety |
Associate
|
32027827 |
Asthenozoospermia |
Associate
|
36471356 |
Autism Spectrum Disorder |
Associate
|
27824329, 37026922 |
Autistic Disorder |
Associate
|
27716508, 27824329, 37026922 |
Breast Neoplasms |
Associate
|
23559371, 23875900, 35589867 |
Breast Neoplasms |
Stimulate
|
26544623 |
Carcinogenesis |
Associate
|
29306329, 30237511 |
Carcinoma Hepatocellular |
Associate
|
31280863, 32555680 |
Carcinoma Non Small Cell Lung |
Associate
|
31455821 |
Carcinoma Renal Cell |
Associate
|
25564569, 25790038 |
Carcinoma Squamous Cell |
Associate
|
32434476 |
Cholangiocarcinoma |
Associate
|
39239747 |
Colorectal Neoplasms |
Associate
|
27213918 |
Congenital Abnormalities |
Associate
|
34878901 |
Cryptorchidism |
Associate
|
18687424 |
Developmental Disabilities |
Associate
|
37026922 |
Diabetic Nephropathies |
Associate
|
37526061 |
Drug Related Side Effects and Adverse Reactions |
Associate
|
23939375 |
Epilepsy |
Associate
|
24959624, 37026922 |
Esophageal Neoplasms |
Associate
|
29127303, 30961474 |
Essential Hypertension |
Associate
|
28804198 |
Genetic Diseases Inborn |
Associate
|
24641320 |
Granulosa Cell Tumor |
Associate
|
36063543 |
Growth Disorders |
Associate
|
34878901, 37026922 |
Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
33977871 |
Hirschsprung Disease |
Associate
|
24334875 |
Hypertension |
Associate
|
23387299, 23573258, 24266877, 26100637, 27716508, 28804198, 35563538 |
Inflammation |
Associate
|
40723924 |
Lung Neoplasms |
Associate
|
21795997 |
Lymphatic Metastasis |
Associate
|
23308193 |
Melanoma |
Associate
|
27708104 |
Mental Disorders |
Associate
|
25695269, 32027827 |
Mitochondrial Diseases |
Associate
|
37526061 |
Multiple Myeloma |
Associate
|
33530159 |
Nasopharyngeal Carcinoma |
Associate
|
28429677 |
Neoplasm Metastasis |
Associate
|
23308193, 26544623 |
Neoplasm Metastasis |
Stimulate
|
28429677 |
Neoplasms |
Associate
|
18757741, 23875900, 24451148, 25056374, 26544623, 27213918, 29306329, 32268084, 33735170, 33977871, 35194034 |
Ovarian Neoplasms |
Associate
|
25114896 |
Polycystic Ovary Syndrome |
Associate
|
36063543 |
Prostatic Neoplasms |
Associate
|
29610475, 32364525, 35194188 |
Pseudohypoaldosteronism |
Associate
|
23902721, 35093948, 35563538 |
Rectal Neoplasms |
Associate
|
35409691 |
Schizophrenia |
Associate
|
27716508 |
Seizures |
Associate
|
37026922 |
Squamous Cell Carcinoma of Head and Neck |
Associate
|
29306329 |
Stomach Neoplasms |
Associate
|
38246227 |
Stroke |
Associate
|
26679092, 32626985 |
Thyroid Cancer Papillary |
Associate
|
24138990 |
Thyroid Neoplasms |
Associate
|
24138990 |
Triple Negative Breast Neoplasms |
Associate
|
25056374 |
Urinary Bladder Neoplasms |
Associate
|
23308193 |
Uterine Cervical Neoplasms |
Associate
|
35194034 |
Vitiligo |
Associate
|
35777015 |
Vitiligo |
Inhibit
|
40723924 |
|