CCND2

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with CDK4 or CDK6 and functions as a regulatory subunit of the complex, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. Knockout studies of the homologous gene in mouse suggest the essential roles of this gene in ovarian granulosa and germ cell proliferation. High level expression of this gene was observed in ovarian and testicular tumors. Mutations in this gene are associated with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA double-strand break processing (GO:0000729)6.91564879
2COPI coating of Golgi vesicle (GO:0048205)6.86005523
3Golgi transport vesicle coating (GO:0048200)6.86005523
4replication fork processing (GO:0031297)4.99189643
5limb bud formation (GO:0060174)4.97193498
6presynaptic membrane assembly (GO:0097105)4.88015771
7signal peptide processing (GO:0006465)4.44666949
8maintenance of protein localization in endoplasmic reticulum (GO:0035437)4.28759390
9maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)4.15136596
10negative regulation of translation involved in gene silencing by miRNA (GO:0035278)4.09816401
11negative regulation of translation, ncRNA-mediated (GO:0040033)4.09816401
12regulation of translation, ncRNA-mediated (GO:0045974)4.09816401
13cellular response to vitamin D (GO:0071305)4.04954422
14presynaptic membrane organization (GO:0097090)4.01384701
15regulation of timing of cell differentiation (GO:0048505)3.74720861
16protein retention in ER lumen (GO:0006621)3.72761809
17olfactory bulb development (GO:0021772)3.71037429
18negative regulation of DNA-dependent DNA replication (GO:2000104)3.64886065
19cerebral cortex radially oriented cell migration (GO:0021799)3.63780744
20protein maturation by protein folding (GO:0022417)3.63527283
21glial cell proliferation (GO:0014009)3.62528805
22negative regulation of DNA recombination (GO:0045910)3.52111580
23regulation of development, heterochronic (GO:0040034)3.51140051
24COPII vesicle coating (GO:0048208)3.51078845
25retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)3.50835809
26type B pancreatic cell development (GO:0003323)3.48069604
27mitotic sister chromatid cohesion (GO:0007064)3.47383363
28postreplication repair (GO:0006301)3.43938131
29regulation of DNA endoreduplication (GO:0032875)3.38913758
30glandular epithelial cell development (GO:0002068)3.38136165
31DNA replication-dependent nucleosome assembly (GO:0006335)3.36771202
32DNA replication-dependent nucleosome organization (GO:0034723)3.36771202
33endocrine pancreas development (GO:0031018)3.30158391
34DNA catabolic process, exonucleolytic (GO:0000738)3.22998414
35forebrain neuron differentiation (GO:0021879)3.19689040
36postsynaptic membrane organization (GO:0001941)3.18367443
37regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)3.16943749
38chromatin remodeling at centromere (GO:0031055)3.16572851
39exocrine pancreas development (GO:0031017)3.15661042
40glandular epithelial cell differentiation (GO:0002067)3.14296081
41regulation of alternative mRNA splicing, via spliceosome (GO:0000381)3.10360997
42regulation of nuclear cell cycle DNA replication (GO:0033262)3.08604962
43sequestering of metal ion (GO:0051238)3.07884433
44cellular response to vitamin (GO:0071295)3.03712882
45positive regulation of natural killer cell differentiation (GO:0032825)3.01824121
46negative regulation of transcription regulatory region DNA binding (GO:2000678)3.01105870
47epithelial cell fate commitment (GO:0072148)3.00598031
48somatic hypermutation of immunoglobulin genes (GO:0016446)2.99878877
49somatic diversification of immune receptors via somatic mutation (GO:0002566)2.99878877
50kidney morphogenesis (GO:0060993)2.97564854
51recombinational repair (GO:0000725)2.97495270
52double-strand break repair via homologous recombination (GO:0000724)2.95916153
53central nervous system projection neuron axonogenesis (GO:0021952)2.95509440
54histone H2A acetylation (GO:0043968)2.94377399
55negative regulation of astrocyte differentiation (GO:0048712)2.94088758
56regulation of type B pancreatic cell apoptotic process (GO:2000674)2.89408896
57mechanosensory behavior (GO:0007638)2.87706030
58astrocyte differentiation (GO:0048708)2.83654371
59CENP-A containing nucleosome assembly (GO:0034080)2.83294435
60centriole replication (GO:0007099)2.81482396
61regulation of mRNA splicing, via spliceosome (GO:0048024)2.80406820
62antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.77892406
63antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.77892406
64pyrimidine nucleobase catabolic process (GO:0006208)2.77739961
65gland morphogenesis (GO:0022612)2.77136396
66somite development (GO:0061053)2.76026183
67atrial cardiac muscle cell action potential (GO:0086014)2.75794733
68positive regulation of receptor biosynthetic process (GO:0010870)2.75791444
69DNA demethylation (GO:0080111)2.74419306
70kinetochore organization (GO:0051383)2.73719546
71C4-dicarboxylate transport (GO:0015740)2.72562635
72tongue development (GO:0043586)2.71477644
73ventricular trabecula myocardium morphogenesis (GO:0003222)2.71288787
74regulation of telomere maintenance (GO:0032204)2.69395662
75histone exchange (GO:0043486)2.69108989
76fucose catabolic process (GO:0019317)2.68234277
77L-fucose metabolic process (GO:0042354)2.68234277
78L-fucose catabolic process (GO:0042355)2.68234277
79meiotic chromosome segregation (GO:0045132)2.66122360
80peptide hormone processing (GO:0016486)2.65742400
81DNA ligation (GO:0006266)2.64502591
82regulation of meiosis I (GO:0060631)2.63443224
83protein K11-linked deubiquitination (GO:0035871)2.60780806
84positive regulation of nuclease activity (GO:0032075)2.59684629
85antigen processing and presentation of endogenous antigen (GO:0019883)2.59316829
86regulation of interleukin-12 biosynthetic process (GO:0045075)2.59130112
87vesicle coating (GO:0006901)2.59055194
88positive regulation of transcription regulatory region DNA binding (GO:2000679)2.57274734
89mismatch repair (GO:0006298)2.57112919
90regulation of chronic inflammatory response (GO:0002676)2.55017285
91positive regulation of neuroblast proliferation (GO:0002052)2.54881097
92positive regulation of cardiac muscle cell differentiation (GO:2000727)2.54173364
93activation of signaling protein activity involved in unfolded protein response (GO:0006987)2.52977340
94regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.52007074
95Notch signaling involved in heart development (GO:0061314)2.49988372
96negative thymic T cell selection (GO:0045060)2.49132069
97DNA replication-independent nucleosome assembly (GO:0006336)2.47669605
98DNA replication-independent nucleosome organization (GO:0034724)2.47669605
99double-strand break repair via nonhomologous end joining (GO:0006303)2.47053718
100non-recombinational repair (GO:0000726)2.47053718
101somatic cell DNA recombination (GO:0016444)2.46116577
102somatic diversification of immune receptors via germline recombination within a single locus (GO:0002.46116577
103sympathetic nervous system development (GO:0048485)2.45841319
104somatic recombination of immunoglobulin gene segments (GO:0016447)2.45524224
105cardiac ventricle formation (GO:0003211)2.45345373
106isotype switching (GO:0045190)2.45303814
107somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)2.45303814
108somatic diversification of immunoglobulins involved in immune response (GO:0002208)2.45303814
109RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.44271265
110regulation of nuclease activity (GO:0032069)2.44110321
111DNA deamination (GO:0045006)2.44044196
112negative T cell selection (GO:0043383)2.43790552
113cellular response to interleukin-15 (GO:0071350)2.43370116
114nuclear pore complex assembly (GO:0051292)2.43232673
115positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.42917131
116DNA unwinding involved in DNA replication (GO:0006268)2.42642899
117positive thymic T cell selection (GO:0045059)2.41243097
118embryonic digestive tract morphogenesis (GO:0048557)2.40950414
119V(D)J recombination (GO:0033151)2.38384854
120cellular response to cholesterol (GO:0071397)2.38239514
121negative regulation of calcium ion-dependent exocytosis (GO:0045955)2.37034155
122cardiac chamber formation (GO:0003207)2.36222352
123cellular response to sterol (GO:0036315)2.36122646
124DNA strand renaturation (GO:0000733)2.35922920
125nuclear pore organization (GO:0006999)2.34566591
126spinal cord development (GO:0021510)2.34485165
127somatic diversification of immune receptors (GO:0002200)2.33770373
128DNA damage response, detection of DNA damage (GO:0042769)2.33557617
129microtubule anchoring (GO:0034453)2.32071548
130regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.31495028
131positive regulation of alpha-beta T cell proliferation (GO:0046641)2.30513683
132negative regulation of fatty acid transport (GO:2000192)2.30102239
133neuron cell-cell adhesion (GO:0007158)2.30087332
134negative regulation of mRNA splicing, via spliceosome (GO:0048025)2.30076992
135regulation of alpha-beta T cell proliferation (GO:0046640)2.28616279
136somatic diversification of immunoglobulins (GO:0016445)2.28497829
137cell proliferation involved in metanephros development (GO:0072203)2.28445014
138regulation of DNA recombination (GO:0000018)2.28299781
139endoplasmic reticulum unfolded protein response (GO:0030968)2.27442575
140planar cell polarity pathway involved in neural tube closure (GO:0090179)2.26936905
141folic acid-containing compound biosynthetic process (GO:0009396)2.24891620
142positive regulation of insulin secretion (GO:0032024)2.24546122
143regulation of vitamin D biosynthetic process (GO:0060556)2.22931064
144cellular response to unfolded protein (GO:0034620)2.22293275
145negative regulation of osteoblast proliferation (GO:0033689)2.21864283
146negative regulation of RNA splicing (GO:0033119)2.17951850
147dorsal/ventral axis specification (GO:0009950)2.17477150
148positive regulation of interleukin-8 secretion (GO:2000484)2.17225542
149positive regulation of DNA-templated transcription, initiation (GO:2000144)2.16857556
150CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)2.16259317
151corticosteroid receptor signaling pathway (GO:0031958)2.15693164
152embryonic camera-type eye morphogenesis (GO:0048596)2.14973437
153positive regulation of isotype switching (GO:0045830)2.14424369
154columnar/cuboidal epithelial cell development (GO:0002066)2.12417189
155cellular response to topologically incorrect protein (GO:0035967)2.12049607
156JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)2.11057797
157atrial septum morphogenesis (GO:0060413)2.10430495
158positive regulation of cell cycle G2/M phase transition (GO:1902751)2.09755356
159positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)2.09755356
160positive regulation of type I interferon-mediated signaling pathway (GO:0060340)2.09547441
161regulation of apoptotic process involved in morphogenesis (GO:1902337)2.09325863
162response to type I interferon (GO:0034340)2.08585059
163T cell apoptotic process (GO:0070231)2.08547061
164neural tube formation (GO:0001841)2.07556822
165ER-nucleus signaling pathway (GO:0006984)2.07529210
166cellular response to type I interferon (GO:0071357)2.04949951
167type I interferon signaling pathway (GO:0060337)2.04949951
168positive regulation of epithelial to mesenchymal transition (GO:0010718)2.04692196
169positive T cell selection (GO:0043368)2.04614096
170positive regulation of hormone biosynthetic process (GO:0046886)2.04318200
171translesion synthesis (GO:0019985)2.03669758
172regulation of T-helper 1 cell differentiation (GO:0045625)2.02618265
173tyrosine phosphorylation of STAT protein (GO:0007260)2.02350547
174positive regulation of BMP signaling pathway (GO:0030513)2.02273581
175protein N-linked glycosylation via asparagine (GO:0018279)2.02203218
176thymic T cell selection (GO:0045061)2.01932537
177positive regulation of DNA binding (GO:0043388)2.01226582
178DNA topological change (GO:0006265)2.01010825
179peptidyl-asparagine modification (GO:0018196)2.00884984
180regulation of protein heterodimerization activity (GO:0043497)2.00072315
181positive regulation of T cell chemotaxis (GO:0010820)1.99817211
182regulation of T cell chemotaxis (GO:0010819)1.99817211
183proximal/distal pattern formation (GO:0009954)1.99809600
184cellular response to nicotine (GO:0071316)1.98788082
185regulation of immunoglobulin secretion (GO:0051023)1.97268470
186dosage compensation (GO:0007549)1.95669219
187regulation of vitamin metabolic process (GO:0030656)1.95533912
188negative regulation of mRNA processing (GO:0050686)1.95142816
189negative regulation of cardiac muscle cell apoptotic process (GO:0010667)1.94655210
190body morphogenesis (GO:0010171)1.94377670
191cellular response to nutrient (GO:0031670)1.93020200
192SRP-dependent cotranslational protein targeting to membrane (GO:0006614)1.92971757

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human7.86886942
2TP63_17297297_ChIP-ChIP_HaCaT_Human5.02873376
3SALL1_21062744_ChIP-ChIP_HESCs_Human3.97017108
4FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.36400106
5EGR1_19374776_ChIP-ChIP_THP-1_Human3.33585067
6TP63_19390658_ChIP-ChIP_HaCaT_Human3.16531325
7HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.88030100
8CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.85333022
9STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.83759560
10IRF8_22096565_ChIP-ChIP_GC-B_Human2.83080140
11GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.74031158
12DMRT1_21621532_ChIP-ChIP_FETAL_Ovary2.68514963
13GBX2_23144817_ChIP-Seq_PC3_Human2.54371883
14IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.52574315
15ELF1_17652178_ChIP-ChIP_JURKAT_Human2.50642269
16POU3F2_20337985_ChIP-ChIP_501MEL_Human2.50287262
17ZFP57_27257070_Chip-Seq_ESCs_Mouse2.48135617
18IGF1R_20145208_ChIP-Seq_DFB_Human2.45753220
19ZNF274_21170338_ChIP-Seq_K562_Hela2.45279813
20EWS_26573619_Chip-Seq_HEK293_Human2.41390796
21FLI1_27457419_Chip-Seq_LIVER_Mouse2.40215167
22VDR_22108803_ChIP-Seq_LS180_Human2.34347224
23NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.33427621
24E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.32262182
25MYC_22102868_ChIP-Seq_BL_Human2.31647144
26FUS_26573619_Chip-Seq_HEK293_Human2.28049330
27TRIM28_21343339_ChIP-Seq_HEK293_Human2.27982452
28GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.26174329
29RBPJ_22232070_ChIP-Seq_NCS_Mouse2.24086246
30MYC_18555785_ChIP-Seq_MESCs_Mouse2.19337299
31EZH2_22144423_ChIP-Seq_EOC_Human2.16141774
32TAF15_26573619_Chip-Seq_HEK293_Human2.12859789
33POU5F1_16153702_ChIP-ChIP_HESCs_Human2.10310166
34P300_19829295_ChIP-Seq_ESCs_Human2.08539524
35PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.06967902
36ELK1_19687146_ChIP-ChIP_HELA_Human2.06207077
37* GABP_17652178_ChIP-ChIP_JURKAT_Human2.03960526
38MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.03508076
39CTBP2_25329375_ChIP-Seq_LNCAP_Human2.00908651
40E2F1_21310950_ChIP-Seq_MCF-7_Human1.98538275
41FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.97289398
42STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.95946841
43PCGF2_27294783_Chip-Seq_ESCs_Mouse1.94959044
44* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.94300931
45PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.90432252
46PCGF2_27294783_Chip-Seq_NPCs_Mouse1.88849301
47CIITA_25753668_ChIP-Seq_RAJI_Human1.86929323
48TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.84328851
49FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.81784798
50GATA1_22025678_ChIP-Seq_K562_Human1.80329966
51NOTCH1_21737748_ChIP-Seq_TLL_Human1.80277510
52MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.77603241
53AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.75802905
54ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.75216974
55FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.71898052
56ERG_20887958_ChIP-Seq_HPC-7_Mouse1.70018148
57CTBP1_25329375_ChIP-Seq_LNCAP_Human1.69891798
58PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.67124848
59TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.65347972
60POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.65347972
61SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.65072114
62IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.64455404
63* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.63838590
64PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.63457943
65E2F4_17652178_ChIP-ChIP_JURKAT_Human1.62701333
66TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.62528226
67* CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.61563264
68SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.60589495
69* STAT4_19710469_ChIP-ChIP_TH1__Mouse1.60372734
70ZFX_18555785_ChIP-Seq_MESCs_Mouse1.58532362
71KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.58201900
72KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.56995492
73SMAD4_21799915_ChIP-Seq_A2780_Human1.56054122
74NELFA_20434984_ChIP-Seq_ESCs_Mouse1.54899196
75HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.54764854
76* MYB_26560356_Chip-Seq_TH2_Human1.54623125
77* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.53404212
78EZH2_27294783_Chip-Seq_NPCs_Mouse1.53226772
79FOXM1_23109430_ChIP-Seq_U2OS_Human1.52768550
80SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.52334125
81STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.52298621
82AR_21572438_ChIP-Seq_LNCaP_Human1.51149883
83SMAD3_21741376_ChIP-Seq_EPCs_Human1.50466289
84EST1_17652178_ChIP-ChIP_JURKAT_Human1.49922432
85SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.49086978
86* XRN2_22483619_ChIP-Seq_HELA_Human1.48451724
87SUZ12_27294783_Chip-Seq_NPCs_Mouse1.48026599
88VDR_23849224_ChIP-Seq_CD4+_Human1.46981563
89GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.45735252
90SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.44261911
91BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.43607658
92NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.42311136
93HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.41387815
94TFEB_21752829_ChIP-Seq_HELA_Human1.40827512
95CREB1_15753290_ChIP-ChIP_HEK293T_Human1.37737057
96* WT1_19549856_ChIP-ChIP_CCG9911_Human1.37381697
97NFE2_27457419_Chip-Seq_LIVER_Mouse1.37177805
98TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.36932430
99DCP1A_22483619_ChIP-Seq_HELA_Human1.36906703
100STAT3_23295773_ChIP-Seq_U87_Human1.36471635
101BCAT_22108803_ChIP-Seq_LS180_Human1.36021038
102CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.35056640
103ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.35010607
104MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.32818140
105MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.32130855
106CLOCK_20551151_ChIP-Seq_293T_Human1.31370681
107* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.31254198
108* MYC_19030024_ChIP-ChIP_MESCs_Mouse1.30649714
109* HOXB4_20404135_ChIP-ChIP_EML_Mouse1.30416194
110NANOG_18555785_Chip-Seq_ESCs_Mouse1.29413716
111PADI4_21655091_ChIP-ChIP_MCF-7_Human1.29280740
112CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.27607355
113BRD4_25478319_ChIP-Seq_HGPS_Human1.25719950
114FOXP3_21729870_ChIP-Seq_TREG_Human1.25211426
115* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.24741684
116ER_23166858_ChIP-Seq_MCF-7_Human1.24609568
117GATA4_21415370_ChIP-Seq_HL-1_Mouse1.24473052
118YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.22611517
119EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.22190287
120TTF2_22483619_ChIP-Seq_HELA_Human1.21037869
121DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.20357287
122TCF4_22108803_ChIP-Seq_LS180_Human1.20050055
123FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.19620168
124P53_22387025_ChIP-Seq_ESCs_Mouse1.18047564
125TCF4_23295773_ChIP-Seq_U87_Human1.17974985
126* MAF_26560356_Chip-Seq_TH1_Human1.17922126
127GABP_19822575_ChIP-Seq_HepG2_Human1.17496628
128TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.17078855
129MYC_19079543_ChIP-ChIP_MESCs_Mouse1.16921431
130CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.16192327
131HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.15917908
132PIAS1_25552417_ChIP-Seq_VCAP_Human1.15559392
133ELK1_22589737_ChIP-Seq_MCF10A_Human1.15168111
134IRF1_19129219_ChIP-ChIP_H3396_Human1.14764248
135KLF5_20875108_ChIP-Seq_MESCs_Mouse1.14701862
136* MYB_26560356_Chip-Seq_TH1_Human1.14337646
137CBP_20019798_ChIP-Seq_JUKART_Human1.14116279
138IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.14116279
139SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.13802768
140SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.13802768
141CHD1_26751641_Chip-Seq_LNCaP_Human1.13556350
142* CBX2_27304074_Chip-Seq_ESCs_Mouse1.13066709
143NR3C1_21868756_ChIP-Seq_MCF10A_Human1.12969053
144* UTX_26944678_Chip-Seq_JUKART_Human1.12818892
145E2F1_18555785_Chip-Seq_ESCs_Mouse1.11933174
146MYCN_18555785_ChIP-Seq_MESCs_Mouse1.11468360
147AR_25329375_ChIP-Seq_VCAP_Human1.11324538
148FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.10974766
149* TCF7_22412390_ChIP-Seq_EML_Mouse1.10832180
150SOX9_26525672_Chip-Seq_HEART_Mouse1.10704866
151CRX_20693478_ChIP-Seq_RETINA_Mouse1.10124403
152SUZ12_18555785_Chip-Seq_ESCs_Mouse1.09795636
153FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.09587642
154MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.08599329
155CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.08291787
156RUNX2_22187159_ChIP-Seq_PCA_Human1.08182131
157MYC_18940864_ChIP-ChIP_HL60_Human1.07657105
158* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.07471127
159SPI1_23547873_ChIP-Seq_NB4_Human1.07230560
160P300_18555785_Chip-Seq_ESCs_Mouse1.07056514
161OCT4_21477851_ChIP-Seq_ESCs_Mouse1.06987066
162* TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.06886442
163CMYC_18555785_Chip-Seq_ESCs_Mouse1.06356141
164RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.05865631
165* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.05620214
166CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.05514149
167VDR_21846776_ChIP-Seq_THP-1_Human1.05378267
168EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.03992927
169MYC_18358816_ChIP-ChIP_MESCs_Mouse1.02719331
170FLI1_21867929_ChIP-Seq_TH2_Mouse1.01963795
171UBF1/2_26484160_Chip-Seq_HMECs_Human1.01893141
172* GATA3_27048872_Chip-Seq_THYMUS_Human1.01714351
173MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.00416579
174NANOG_19829295_ChIP-Seq_ESCs_Human0.99380982
175SOX2_19829295_ChIP-Seq_ESCs_Human0.99380982
176E2F1_18555785_ChIP-Seq_MESCs_Mouse0.99059194
177CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.98842366
178TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.98655134
179STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.98353912
180SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.96967463
181TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.96349007
182RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.95626795
183KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.95248866
184TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.94419130
185CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.93962391

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002877_abnormal_melanocyte_morpholog3.90625398
2MP0003880_abnormal_central_pattern3.18814282
3MP0008057_abnormal_DNA_replication3.17519759
4MP0000569_abnormal_digit_pigmentation2.90339733
5MP0000678_abnormal_parathyroid_gland2.68256403
6MP0008058_abnormal_DNA_repair2.63132810
7MP0008789_abnormal_olfactory_epithelium2.55651309
8MP0006054_spinal_hemorrhage2.45911391
9MP0005499_abnormal_olfactory_system2.30486843
10MP0005394_taste/olfaction_phenotype2.30486843
11MP0002163_abnormal_gland_morphology2.27638203
12MP0000778_abnormal_nervous_system2.24120969
13MP0010352_gastrointestinal_tract_polyps2.17238364
14MP0003300_gastrointestinal_ulcer2.12727493
15MP0001944_abnormal_pancreas_morphology2.12587804
16MP0003283_abnormal_digestive_organ2.11535137
17MP0005379_endocrine/exocrine_gland_phen2.09397493
18MP0002693_abnormal_pancreas_physiology2.04188842
19MP0008877_abnormal_DNA_methylation2.01396516
20MP0002102_abnormal_ear_morphology2.00577922
21MP0002736_abnormal_nociception_after1.99082597
22MP0002751_abnormal_autonomic_nervous1.91439834
23MP0003567_abnormal_fetal_cardiomyocyte1.90589480
24MP0002233_abnormal_nose_morphology1.88113425
25MP0008007_abnormal_cellular_replicative1.87579432
26MP0006072_abnormal_retinal_apoptosis1.86523959
27MP0000013_abnormal_adipose_tissue1.80143845
28MP0003122_maternal_imprinting1.76211478
29MP0005220_abnormal_exocrine_pancreas1.75094037
30MP0001348_abnormal_lacrimal_gland1.73588956
31MP0003763_abnormal_thymus_physiology1.72837364
32MP0003890_abnormal_embryonic-extraembry1.70703457
33MP0001293_anophthalmia1.70487767
34MP0004808_abnormal_hematopoietic_stem1.65797879
35MP0004885_abnormal_endolymph1.63271724
36MP0001984_abnormal_olfaction1.61978089
37MP0005076_abnormal_cell_differentiation1.61318376
38MP0008438_abnormal_cutaneous_collagen1.59866088
39MP0003787_abnormal_imprinting1.59662793
40MP0000631_abnormal_neuroendocrine_gland1.58311670
41MP0004742_abnormal_vestibular_system1.57218587
42MP0002234_abnormal_pharynx_morphology1.55472558
43MP0005671_abnormal_response_to1.53876830
44MP0000049_abnormal_middle_ear1.47272639
45MP0001177_atelectasis1.45477495
46MP0009697_abnormal_copulation1.45239919
47MP0005503_abnormal_tendon_morphology1.43661954
48MP0003123_paternal_imprinting1.42801900
49MP0003121_genomic_imprinting1.40230846
50MP0005253_abnormal_eye_physiology1.40118718
51MP0000566_synostosis1.39355831
52MP0000613_abnormal_salivary_gland1.39228439
53MP0001968_abnormal_touch/_nociception1.38987481
54MP0000428_abnormal_craniofacial_morphol1.37871724
55MP0000685_abnormal_immune_system1.37614963
56MP0003942_abnormal_urinary_system1.37552169
57MP0003937_abnormal_limbs/digits/tail_de1.35164734
58MP0002009_preneoplasia1.29755212
59MP0002166_altered_tumor_susceptibility1.29601378
60MP0005257_abnormal_intraocular_pressure1.28988689
61MP0003941_abnormal_skin_development1.28665072
62MP0003938_abnormal_ear_development1.26817044
63MP0000537_abnormal_urethra_morphology1.26743915
64MP0003183_abnormal_peptide_metabolism1.25759423
65MP0009780_abnormal_chondrocyte_physiolo1.24139025
66MP0000516_abnormal_urinary_system1.23459031
67MP0005367_renal/urinary_system_phenotyp1.23459031
68MP0001486_abnormal_startle_reflex1.23384098
69MP0002938_white_spotting1.23226246
70MP0004215_abnormal_myocardial_fiber1.22244852
71MP0001270_distended_abdomen1.21321598
72MP0003705_abnormal_hypodermis_morpholog1.20853029
73MP0009384_cardiac_valve_regurgitation1.19736875
74MP0005551_abnormal_eye_electrophysiolog1.19701149
75MP0003718_maternal_effect1.19293556
76MP0001286_abnormal_eye_development1.19249860
77MP0009053_abnormal_anal_canal1.15748118
78MP0001835_abnormal_antigen_presentation1.15444883
79MP0005423_abnormal_somatic_nervous1.14595414
80MP0002928_abnormal_bile_duct1.14012367
81MP0003279_aneurysm1.12514659
82MP0002098_abnormal_vibrissa_morphology1.12500246
83MP0002254_reproductive_system_inflammat1.11624619
84MP0001485_abnormal_pinna_reflex1.11477537
85MP0009333_abnormal_splenocyte_physiolog1.11179881
86MP0010307_abnormal_tumor_latency1.10667116
87MP0003111_abnormal_nucleus_morphology1.10096544
88MP0002933_joint_inflammation1.08898903
89MP0002896_abnormal_bone_mineralization1.08505773
90MP0002177_abnormal_outer_ear1.08141433
91MP0001529_abnormal_vocalization1.07028089
92MP0001346_abnormal_lacrimal_gland1.06703811
93MP0010386_abnormal_urinary_bladder1.06401118
94MP0002006_tumorigenesis1.05471592
95MP0005391_vision/eye_phenotype1.04577698
96MP0003935_abnormal_craniofacial_develop1.02815549
97MP0000003_abnormal_adipose_tissue1.02671033
98MP0010030_abnormal_orbit_morphology0.99494680
99MP0010094_abnormal_chromosome_stability0.98584310
100MP0004510_myositis0.98449171
101MP0002638_abnormal_pupillary_reflex0.98134921
102MP0004197_abnormal_fetal_growth/weight/0.97864502
103MP0001790_abnormal_immune_system0.97654619
104MP0005387_immune_system_phenotype0.97654619
105MP0003115_abnormal_respiratory_system0.96736698
106* MP0003861_abnormal_nervous_system0.96672179
107MP0003693_abnormal_embryo_hatching0.96203596
108MP0006276_abnormal_autonomic_nervous0.96039740
109MP0003385_abnormal_body_wall0.95107568
110MP0003436_decreased_susceptibility_to0.94945850
111MP0005187_abnormal_penis_morphology0.94559808
112MP0005508_abnormal_skeleton_morphology0.93019883
113MP0000163_abnormal_cartilage_morphology0.92319219
114MP0003786_premature_aging0.91971551
115MP0000703_abnormal_thymus_morphology0.91646567
116MP0005275_abnormal_skin_tensile0.91571133
117MP0009703_decreased_birth_body0.91386345
118MP0004084_abnormal_cardiac_muscle0.90201373
119MP0002116_abnormal_craniofacial_bone0.89649905
120MP0005310_abnormal_salivary_gland0.89311808
121MP0003795_abnormal_bone_structure0.87170714
122MP0005646_abnormal_pituitary_gland0.86934048
123MP0005000_abnormal_immune_tolerance0.86853386
124MP0003077_abnormal_cell_cycle0.86850773
125MP0008872_abnormal_physiological_respon0.86390796
126MP0000026_abnormal_inner_ear0.86260236
127MP0000383_abnormal_hair_follicle0.85302412
128MP0003755_abnormal_palate_morphology0.84922221
129MP0002398_abnormal_bone_marrow0.84253048
130MP0000432_abnormal_head_morphology0.83873986
131MP0000490_abnormal_crypts_of0.83652753
132MP0005248_abnormal_Harderian_gland0.83504287
133MP0010368_abnormal_lymphatic_system0.83363434
134MP0009785_altered_susceptibility_to0.83248958
135MP0005174_abnormal_tail_pigmentation0.82735512
136MP0003866_abnormal_defecation0.82389092
137MP0002113_abnormal_skeleton_development0.81957054
138MP0003959_abnormal_lean_body0.81932397
139MP0008932_abnormal_embryonic_tissue0.81623885
140MP0009745_abnormal_behavioral_response0.81117483
141MP0002735_abnormal_chemical_nociception0.81091879
142MP0010155_abnormal_intestine_physiology0.80944255
143MP0002272_abnormal_nervous_system0.80842781
144MP0003119_abnormal_digestive_system0.80696136
145MP0002932_abnormal_joint_morphology0.79893477
146MP0000858_altered_metastatic_potential0.79418845
147MP0004145_abnormal_muscle_electrophysio0.79411438
148MP0002697_abnormal_eye_size0.79045079
149MP0000647_abnormal_sebaceous_gland0.78800606
150MP0002184_abnormal_innervation0.78393970
151* MP0003943_abnormal_hepatobiliary_system0.77768995
152MP0003566_abnormal_cell_adhesion0.77726548
153MP0005395_other_phenotype0.77013427
154MP0002148_abnormal_hypersensitivity_rea0.76977948
155MP0002084_abnormal_developmental_patter0.76344194
156MP0003137_abnormal_impulse_conducting0.76295045
157MP0004142_abnormal_muscle_tone0.76247429
158MP0009250_abnormal_appendicular_skeleto0.76030017
159MP0005645_abnormal_hypothalamus_physiol0.75065339
160MP0002396_abnormal_hematopoietic_system0.75059744
161MP0002909_abnormal_adrenal_gland0.74908968
162MP0002405_respiratory_system_inflammati0.74544023
163MP0002837_dystrophic_cardiac_calcinosis0.74350803
164MP0002752_abnormal_somatic_nervous0.74282291
165MP0002115_abnormal_skeleton_extremities0.74258416
166* MP0002210_abnormal_sex_determination0.74103700
167MP0004272_abnormal_basement_membrane0.73759457
168MP0005390_skeleton_phenotype0.73190876
169MP0004957_abnormal_blastocyst_morpholog0.72347643
170MP0000681_abnormal_thyroid_gland0.72249809
171MP0006292_abnormal_olfactory_placode0.72118050
172MP0000350_abnormal_cell_proliferation0.71773384

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of the labia minora (HP:0012880)4.00940832
2Elevated circulating parathyroid hormone (PTH) level (HP:0003165)3.98548738
3Hypoglycemic seizures (HP:0002173)3.69181832
4Hyperinsulinemic hypoglycemia (HP:0000825)3.62048985
5Symptomatic seizures (HP:0011145)3.47823517
6Prominent metopic ridge (HP:0005487)3.34558935
7Abnormality of the metopic suture (HP:0005556)3.30900954
8Hyperventilation (HP:0002883)3.09133709
9Pancreatic islet-cell hyperplasia (HP:0004510)2.91584724
10Hypoglycemic coma (HP:0001325)2.91204703
11Abnormality of the astrocytes (HP:0100707)2.85209791
12Astrocytoma (HP:0009592)2.85209791
13Abnormality of the anterior horn cell (HP:0006802)2.84097185
14Degeneration of anterior horn cells (HP:0002398)2.84097185
15Abnormal pancreas size (HP:0012094)2.82959702
16Hepatoblastoma (HP:0002884)2.76445037
17Renal hypoplasia (HP:0000089)2.73609536
18Aplasia/Hypoplasia of the sternum (HP:0006714)2.71484923
19Glioma (HP:0009733)2.69793390
20Ependymoma (HP:0002888)2.69090801
21Pancreatic cysts (HP:0001737)2.65562332
22Cupped ear (HP:0000378)2.64360112
23Hyperglycemia (HP:0003074)2.63783684
24Abnormality of the pancreatic islet cells (HP:0006476)2.60419620
25Abnormality of endocrine pancreas physiology (HP:0012093)2.60419620
26Protrusio acetabuli (HP:0003179)2.58565119
27Facial hemangioma (HP:0000329)2.52592669
28Thyroiditis (HP:0100646)2.52284936
29True hermaphroditism (HP:0010459)2.47586444
30Abnormality of calcium-phosphate metabolism (HP:0100530)2.44076350
31Chronic hepatic failure (HP:0100626)2.43083490
32Asymmetry of the thorax (HP:0001555)2.41998754
33Abnormal lung lobation (HP:0002101)2.38516972
34Abnormality of midbrain morphology (HP:0002418)2.38503759
35Molar tooth sign on MRI (HP:0002419)2.38503759
36Skull defect (HP:0001362)2.38002878
37Broad face (HP:0000283)2.37423401
38Rhabdomyosarcoma (HP:0002859)2.36338185
39Spinal cord lesions (HP:0100561)2.34869920
40Syringomyelia (HP:0003396)2.34869920
41Long palpebral fissure (HP:0000637)2.34266052
4211 pairs of ribs (HP:0000878)2.33821777
43Unilateral renal agenesis (HP:0000122)2.32093068
44Nephronophthisis (HP:0000090)2.32001526
45Missing ribs (HP:0000921)2.31950909
46Ectopic kidney (HP:0000086)2.31062103
47Short middle phalanx of the 5th finger (HP:0004220)2.29895248
48Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.25674936
49Short 4th metacarpal (HP:0010044)2.25674936
50Chronic diarrhea (HP:0002028)2.25013635
51Long clavicles (HP:0000890)2.23022996
52Optic nerve coloboma (HP:0000588)2.22227142
53Renal duplication (HP:0000075)2.18744461
54Large for gestational age (HP:0001520)2.18422197
55Insulin-resistant diabetes mellitus (HP:0000831)2.16247067
56Neoplasm of the oral cavity (HP:0100649)2.16183701
57Tented upper lip vermilion (HP:0010804)2.13822327
58Aplasia/Hypoplasia of the uvula (HP:0010293)2.13757347
59Pancreatic fibrosis (HP:0100732)2.13538133
60Thrombocytosis (HP:0001894)2.13270021
61Drooling (HP:0002307)2.12492903
62Cervical subluxation (HP:0003308)2.12475912
63Abnormality of the ileum (HP:0001549)2.12000920
64Intestinal atresia (HP:0011100)2.11270662
65Severe combined immunodeficiency (HP:0004430)2.10225702
66Abnormality of chromosome stability (HP:0003220)2.08917813
67Abnormality of the renal medulla (HP:0100957)2.05900729
68Cutaneous finger syndactyly (HP:0010554)2.05717420
69Aqueductal stenosis (HP:0002410)2.04524546
70Meckel diverticulum (HP:0002245)2.04488175
71Dilatation of the ascending aorta (HP:0005111)2.01782792
72Colon cancer (HP:0003003)2.01713093
73Excessive salivation (HP:0003781)1.97469266
74Gastrointestinal atresia (HP:0002589)1.96796101
75Abnormality of dentin (HP:0010299)1.96511639
76Medulloblastoma (HP:0002885)1.96214351
77Narrow forehead (HP:0000341)1.95621085
78Preaxial hand polydactyly (HP:0001177)1.94949095
79Thin bony cortex (HP:0002753)1.94553824
80B lymphocytopenia (HP:0010976)1.92413754
81Abnormal hair whorl (HP:0010721)1.92145156
82Premature rupture of membranes (HP:0001788)1.91509353
83Abnormality of the distal phalanges of the toes (HP:0010182)1.90116597
84High anterior hairline (HP:0009890)1.89755543
85Morphological abnormality of the middle ear (HP:0008609)1.89750015
86Mesomelia (HP:0003027)1.89399341
87Subacute progressive viral hepatitis (HP:0006572)1.89060202
88Neoplasm of striated muscle (HP:0009728)1.88501864
89Sloping forehead (HP:0000340)1.88060635
90Hyperparathyroidism (HP:0000843)1.87922768
91Bile duct proliferation (HP:0001408)1.87877378
92Abnormal biliary tract physiology (HP:0012439)1.87877378
93Chromosomal breakage induced by crosslinking agents (HP:0003221)1.87776450
94Bifid tongue (HP:0010297)1.87543358
95Periodontitis (HP:0000704)1.87525703
96Abnormality of the antihelix (HP:0009738)1.86852150
97Clitoromegaly (HP:0000057)1.86377054
98Thoracolumbar scoliosis (HP:0002944)1.86127580
99Soft skin (HP:0000977)1.83951879
100Abnormality of T cell physiology (HP:0011840)1.83488976
101Abnormality of the right ventricle (HP:0001707)1.82649323
102Increased density of long bones (HP:0006392)1.82138650
103Abnormality of incisor morphology (HP:0011063)1.81876591
104Abnormality of the preputium (HP:0100587)1.81747202
105Abnormality of B cell number (HP:0010975)1.81320152
106Abnormality of T cells (HP:0002843)1.81161564
107Abnormality of the fingertips (HP:0001211)1.80911170
108Limb hypertonia (HP:0002509)1.80310046
109Late onset (HP:0003584)1.79582663
110Shallow orbits (HP:0000586)1.78815588
111Cystic hygroma (HP:0000476)1.78717248
112Duplicated collecting system (HP:0000081)1.78714075
113Oligodactyly (hands) (HP:0001180)1.75564381
114Abnormality of the pons (HP:0007361)1.75336106
115Abnormal delayed hypersensitivity skin test (HP:0002963)1.74877941
116Cutaneous syndactyly (HP:0012725)1.74711640
117Fair hair (HP:0002286)1.74428592
118Aortic dissection (HP:0002647)1.73408106
119Bowel diverticulosis (HP:0005222)1.73362639
120Abnormality of the duodenum (HP:0002246)1.72843552
121Combined immunodeficiency (HP:0005387)1.70553270
122Oligodactyly (HP:0012165)1.70428550
123Hypoproteinemia (HP:0003075)1.70165869
124Pendular nystagmus (HP:0012043)1.69950931
125Focal motor seizures (HP:0011153)1.69832155
126Spondylolisthesis (HP:0003302)1.69583929
127Clubbing of toes (HP:0100760)1.69334525
128Abnormality of the incisor (HP:0000676)1.69280932
129Aortic aneurysm (HP:0004942)1.68649159
130Short 5th finger (HP:0009237)1.68304301
1312-3 toe syndactyly (HP:0004691)1.67964876
132Chromsome breakage (HP:0040012)1.67569034
133Abnormality of T cell number (HP:0011839)1.67389712
134Congenital glaucoma (HP:0001087)1.65295876
135Split foot (HP:0001839)1.64637758
136Neoplasm of the adrenal cortex (HP:0100641)1.64556957
137Widely spaced teeth (HP:0000687)1.64526799
138Volvulus (HP:0002580)1.64092069
139Gastroesophageal reflux (HP:0002020)1.63922805
140Aplasia/Hypoplasia of the tongue (HP:0010295)1.63684882
141Hyperglycinuria (HP:0003108)1.63615824
142Bladder diverticulum (HP:0000015)1.63198926
143Patellar aplasia (HP:0006443)1.63068831
144Deep philtrum (HP:0002002)1.62706535
145Decreased circulating renin level (HP:0003351)1.62141378
146Genital tract atresia (HP:0001827)1.61845668
147Abnormality of oral frenula (HP:0000190)1.61160189
148Type I transferrin isoform profile (HP:0003642)1.60976951
149T lymphocytopenia (HP:0005403)1.60966175
150Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.60895780
151Abnormal protein N-linked glycosylation (HP:0012347)1.60895780
152Abnormal protein glycosylation (HP:0012346)1.60895780
153Abnormal glycosylation (HP:0012345)1.60895780
154Protruding tongue (HP:0010808)1.60808924
155Abnormality of the renal collecting system (HP:0004742)1.60719881
156Absent speech (HP:0001344)1.60694421
157Hypercortisolism (HP:0001578)1.60173301
158Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.60108931
159Broad-based gait (HP:0002136)1.60095996
160Preaxial foot polydactyly (HP:0001841)1.60070556
161Abnormality of chromosome segregation (HP:0002916)1.59762494
162Anophthalmia (HP:0000528)1.59704507
163Abnormality of the 4th metacarpal (HP:0010012)1.59684203
164Increased number of teeth (HP:0011069)1.59467060
165Hypoplastic labia majora (HP:0000059)1.59290413
166Subaortic stenosis (HP:0001682)1.59274206
167Abnormality of the left ventricular outflow tract (HP:0011103)1.59274206
168Abnormality of the pubic bones (HP:0003172)1.59206322
169Adactyly (HP:0009776)1.59004557
170Vaginal atresia (HP:0000148)1.58762281
171Cortical dysplasia (HP:0002539)1.58754614
172Insulin resistance (HP:0000855)1.57307413
173Amaurosis fugax (HP:0100576)1.57248930
174IgA deficiency (HP:0002720)1.56157598
175Wide cranial sutures (HP:0010537)1.56101444
176Vertebral compression fractures (HP:0002953)1.55863899
177Progressive sensorineural hearing impairment (HP:0000408)1.55410802
178Macroorchidism (HP:0000053)1.55049329
179Aplasia/Hypoplasia of the 5th finger (HP:0006262)1.51287280
180Premature skin wrinkling (HP:0100678)1.50309432
181Recurrent bronchitis (HP:0002837)1.49489492
182Exocrine pancreatic insufficiency (HP:0001738)1.49397768
183Papillary thyroid carcinoma (HP:0002895)1.48688483
184Severe short stature (HP:0003510)1.47900037
185Agitation (HP:0000713)1.47163588
186Cutaneous melanoma (HP:0012056)1.46946059
187Bicuspid aortic valve (HP:0001647)1.46861142
188Hyperphosphatemia (HP:0002905)1.46691488
189Micronodular cirrhosis (HP:0001413)1.46111939

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PASK4.63426001
2INSRR3.11862788
3WNK32.94440864
4TRIB32.64213793
5JAK32.61195195
6TNIK2.56630704
7PNCK2.35604951
8MAP4K22.20901607
9FRK2.19153621
10RPS6KA42.14599113
11BRSK22.12705150
12TRIM282.07629004
13MAPK151.99636334
14WEE11.98683780
15HIPK21.98214628
16MAPK131.97095653
17CASK1.95840099
18TESK11.94716036
19EPHA31.93460782
20ERBB31.91346962
21TXK1.87039428
22CHUK1.76783376
23MARK11.68436071
24TSSK61.61662808
25FLT31.59874420
26PIM21.59475655
27TGFBR11.54051813
28PLK41.52380794
29NEK91.51085550
30NUAK11.50391641
31NLK1.49699648
32EPHB21.47920621
33DYRK1B1.46985533
34MAP3K141.45051514
35CSNK1G11.44699027
36MAP3K101.42719216
37PDGFRA1.41235155
38EIF2AK11.40648008
39TAF11.38955262
40MAP4K11.38905530
41BRSK11.38069826
42ZAP701.33602409
43STK38L1.27658478
44EPHA41.23942037
45ACVR1B1.21108744
46MAP3K41.20986097
47MKNK11.20087633
48FGFR31.19634700
49CSNK1G21.17879616
50PTK61.17655039
51ERN11.17235848
52PRKD31.16536180
53NEK11.12803518
54SCYL21.11749062
55EEF2K1.10587155
56STK391.09970117
57CSNK1G31.09407411
58BUB11.06160965
59PIK3CG1.04811713
60LIMK11.04151742
61ATR1.03137200
62CDC71.01854384
63PLK21.01637093
64CSNK1A1L1.00751511
65LATS10.99360582
66PKN10.98405991
67IKBKB0.97620685
68PKN20.97194176
69SGK20.97013594
70EIF2AK20.96285725
71CDC42BPA0.94411549
72JAK10.93410710
73ITK0.93233944
74BTK0.92751976
75IRAK10.90520731
76ZAK0.88242068
77TEC0.87399226
78DYRK30.85680863
79CCNB10.85644652
80SRPK10.84336325
81PAK30.83029493
82PAK20.82520858
83VRK20.81653228
84ILK0.80861881
85KSR10.80428657
86IRAK40.80383174
87SIK10.78950476
88MKNK20.78791320
89OBSCN0.76720999
90TYK20.76660756
91IRAK30.76573561
92BMPR1B0.76116571
93LRRK20.75778063
94TAOK30.74453348
95TBK10.74281699
96CDK30.72664344
97OXSR10.72597022
98AURKB0.72312996
99FGFR10.72024212
100EIF2AK30.71772099
101ATM0.70963249
102TTK0.69690073
103MAP3K20.69653835
104PTK20.68784385
105FGFR20.68046327
106ADRBK20.67501320
107FGFR40.66987907
108UHMK10.66902649
109CAMK1G0.65604613
110PLK10.65351184
111YES10.61179634
112PLK30.60203333
113RAF10.60009563
114MAPKAPK20.59705221
115PIM10.58379835
116MTOR0.58252647
117SIK30.57624960
118NTRK20.56442008
119IKBKE0.53712242
120MST40.53695391
121STK240.53632445
122DMPK0.52953174
123AKT30.52191791
124CDK70.51910433
125CLK10.50333247
126STK30.48854223
127SGK4940.48733593
128SGK2230.48733593
129VRK10.48623134
130PRKCH0.48181620
131TRPM70.48007511
132PAK60.47914195
133RPS6KB10.47583580
134PRKCE0.47250254
135PRKD20.47194735
136IGF1R0.46476151
137PRKCQ0.45577674
138BRD40.45298535
139CSNK1D0.44697567
140RPS6KA10.44506527
141GRK10.44068468
142DYRK20.43731677
143CHEK10.43691843
144BCR0.43441893
145STK160.42932203
146AKT10.41349205
147LCK0.40940109
148PRKDC0.39580756
149NTRK30.38584359
150CDK60.38313336
151CSNK1A10.38263976
152CDK80.37897854
153TTN0.36238509
154STK40.36208901
155CDK10.35568688
156PIK3CA0.34403888
157CHEK20.30260679
158RPS6KA50.30121795
159PINK10.29678202
160SGK10.28229258
161CDK20.27332837
162MAPKAPK50.27331121
163CSNK1E0.26105385

Predicted pathways (KEGG)

RankGene SetZ-score
1Maturity onset diabetes of the young_Homo sapiens_hsa049504.19412570
2Protein export_Homo sapiens_hsa030603.47460366
3Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.76166111
4Type I diabetes mellitus_Homo sapiens_hsa049402.73622841
5Propanoate metabolism_Homo sapiens_hsa006402.44957777
6Basal transcription factors_Homo sapiens_hsa030222.15944619
7Allograft rejection_Homo sapiens_hsa053302.14588745
8Graft-versus-host disease_Homo sapiens_hsa053321.96404161
9Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.95254067
10Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.91994672
11DNA replication_Homo sapiens_hsa030301.79308313
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.63331965
13Steroid biosynthesis_Homo sapiens_hsa001001.59922434
14Phototransduction_Homo sapiens_hsa047441.59330384
15Antigen processing and presentation_Homo sapiens_hsa046121.49609953
16Butanoate metabolism_Homo sapiens_hsa006501.48690230
17* Measles_Homo sapiens_hsa051621.48084055
18Autoimmune thyroid disease_Homo sapiens_hsa053201.46887391
19NF-kappa B signaling pathway_Homo sapiens_hsa040641.46820571
20Chronic myeloid leukemia_Homo sapiens_hsa052201.42110181
21Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.42034292
22Mismatch repair_Homo sapiens_hsa034301.41973878
23Viral myocarditis_Homo sapiens_hsa054161.40752640
24RNA polymerase_Homo sapiens_hsa030201.40690366
25Nitrogen metabolism_Homo sapiens_hsa009101.40367610
26Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.34946542
27Proteasome_Homo sapiens_hsa030501.33058994
28N-Glycan biosynthesis_Homo sapiens_hsa005101.32666933
29Leishmaniasis_Homo sapiens_hsa051401.32186277
30Primary immunodeficiency_Homo sapiens_hsa053401.32046884
31* Cell cycle_Homo sapiens_hsa041101.31522609
32* p53 signaling pathway_Homo sapiens_hsa041151.31101302
33Nicotine addiction_Homo sapiens_hsa050331.30734740
34Intestinal immune network for IgA production_Homo sapiens_hsa046721.30664179
35Base excision repair_Homo sapiens_hsa034101.30250585
36Lysine degradation_Homo sapiens_hsa003101.29592082
37Herpes simplex infection_Homo sapiens_hsa051681.29560732
38Legionellosis_Homo sapiens_hsa051341.29477551
39Spliceosome_Homo sapiens_hsa030401.28748875
40Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.26382305
41* HTLV-I infection_Homo sapiens_hsa051661.25399483
42Systemic lupus erythematosus_Homo sapiens_hsa053221.18249488
43Small cell lung cancer_Homo sapiens_hsa052221.15555561
44Thyroid cancer_Homo sapiens_hsa052161.15223495
45Hepatitis B_Homo sapiens_hsa051611.14549517
46Homologous recombination_Homo sapiens_hsa034401.11987981
47* Prolactin signaling pathway_Homo sapiens_hsa049171.10696788
48* Jak-STAT signaling pathway_Homo sapiens_hsa046301.10561924
49Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.10378278
50Alcoholism_Homo sapiens_hsa050341.06571862
51* MicroRNAs in cancer_Homo sapiens_hsa052061.06373679
52Toxoplasmosis_Homo sapiens_hsa051451.06200218
53Oocyte meiosis_Homo sapiens_hsa041141.05829575
54T cell receptor signaling pathway_Homo sapiens_hsa046601.04360062
55Toll-like receptor signaling pathway_Homo sapiens_hsa046201.03949732
56Bladder cancer_Homo sapiens_hsa052191.03834977
57Ether lipid metabolism_Homo sapiens_hsa005651.03621061
58Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.03296615
59RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.02094061
60TNF signaling pathway_Homo sapiens_hsa046681.01247311
61Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.01166312
62Prostate cancer_Homo sapiens_hsa052150.99173807
63Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.94235249
64alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.93763726
65AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.93524224
66Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.93096466
67Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.91819860
68Cysteine and methionine metabolism_Homo sapiens_hsa002700.91099966
69RNA degradation_Homo sapiens_hsa030180.90914879
70* Transcriptional misregulation in cancer_Homo sapiens_hsa052020.89569196
71Endometrial cancer_Homo sapiens_hsa052130.88700378
72Epstein-Barr virus infection_Homo sapiens_hsa051690.88508932
73Pancreatic cancer_Homo sapiens_hsa052120.88323286
74* Viral carcinogenesis_Homo sapiens_hsa052030.88302452
75RNA transport_Homo sapiens_hsa030130.87516105
76Influenza A_Homo sapiens_hsa051640.87266849
77Type II diabetes mellitus_Homo sapiens_hsa049300.87077907
78Basal cell carcinoma_Homo sapiens_hsa052170.86319872
79Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.85779137
80Notch signaling pathway_Homo sapiens_hsa043300.85622021
81Linoleic acid metabolism_Homo sapiens_hsa005910.84613575
82Adherens junction_Homo sapiens_hsa045200.83783780
83Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.83457294
84Apoptosis_Homo sapiens_hsa042100.82081679
85Asthma_Homo sapiens_hsa053100.81898829
86Proteoglycans in cancer_Homo sapiens_hsa052050.80868571
87Insulin secretion_Homo sapiens_hsa049110.80837044
88Acute myeloid leukemia_Homo sapiens_hsa052210.80411583
89Shigellosis_Homo sapiens_hsa051310.80310159
90NOD-like receptor signaling pathway_Homo sapiens_hsa046210.80179470
91One carbon pool by folate_Homo sapiens_hsa006700.79547495
92Nucleotide excision repair_Homo sapiens_hsa034200.77195033
93Carbohydrate digestion and absorption_Homo sapiens_hsa049730.77144887
94Caffeine metabolism_Homo sapiens_hsa002320.73236853
95Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.72819818
96mRNA surveillance pathway_Homo sapiens_hsa030150.72809773
97Colorectal cancer_Homo sapiens_hsa052100.72295429
98Neurotrophin signaling pathway_Homo sapiens_hsa047220.66470239
99Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.66123870
100Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.64660940
101Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.64210236
102* Hippo signaling pathway_Homo sapiens_hsa043900.64121438
103Taste transduction_Homo sapiens_hsa047420.63290774
104* Focal adhesion_Homo sapiens_hsa045100.62786934
105Hematopoietic cell lineage_Homo sapiens_hsa046400.62124540
106Pyrimidine metabolism_Homo sapiens_hsa002400.62060626
107Osteoclast differentiation_Homo sapiens_hsa043800.61533867
108Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.61492882
109Insulin resistance_Homo sapiens_hsa049310.61290455
110Non-small cell lung cancer_Homo sapiens_hsa052230.61140929
111Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.60486153
112Purine metabolism_Homo sapiens_hsa002300.59969127
113Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.59573558
114Leukocyte transendothelial migration_Homo sapiens_hsa046700.59032236
115Glutamatergic synapse_Homo sapiens_hsa047240.58560134
116Thyroid hormone signaling pathway_Homo sapiens_hsa049190.57781261
117Glycerolipid metabolism_Homo sapiens_hsa005610.57081805
118Pathways in cancer_Homo sapiens_hsa052000.56714531
119Hedgehog signaling pathway_Homo sapiens_hsa043400.56690154
120* Wnt signaling pathway_Homo sapiens_hsa043100.54268199
121Non-homologous end-joining_Homo sapiens_hsa034500.53900202
122Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.53872157
123TGF-beta signaling pathway_Homo sapiens_hsa043500.53328595
124Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.52727806
125Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.52618896
126Glycosaminoglycan degradation_Homo sapiens_hsa005310.52054734
127Dorso-ventral axis formation_Homo sapiens_hsa043200.52015796
128Vibrio cholerae infection_Homo sapiens_hsa051100.51358454
129Circadian rhythm_Homo sapiens_hsa047100.50920904
130Pertussis_Homo sapiens_hsa051330.50830568
131Fanconi anemia pathway_Homo sapiens_hsa034600.49837343
132Melanoma_Homo sapiens_hsa052180.49222823
133Circadian entrainment_Homo sapiens_hsa047130.49051360
134Selenocompound metabolism_Homo sapiens_hsa004500.48941152
135Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.48437645
136Long-term depression_Homo sapiens_hsa047300.48162630
137Malaria_Homo sapiens_hsa051440.48057083
138* FoxO signaling pathway_Homo sapiens_hsa040680.46927995
139* PI3K-Akt signaling pathway_Homo sapiens_hsa041510.46912342
140Fatty acid metabolism_Homo sapiens_hsa012120.46004971
141Olfactory transduction_Homo sapiens_hsa047400.44091712
142Axon guidance_Homo sapiens_hsa043600.41516777
143Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.40533944
144Dopaminergic synapse_Homo sapiens_hsa047280.40139718
145cAMP signaling pathway_Homo sapiens_hsa040240.37313717
146Amphetamine addiction_Homo sapiens_hsa050310.35554442
147Morphine addiction_Homo sapiens_hsa050320.35456726
148Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.34849488
149Glioma_Homo sapiens_hsa052140.34322341
150Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.30052836
151Ovarian steroidogenesis_Homo sapiens_hsa049130.29548536
152Aldosterone synthesis and secretion_Homo sapiens_hsa049250.29061736
153Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.27780246
154Regulation of autophagy_Homo sapiens_hsa041400.26613494
155Tryptophan metabolism_Homo sapiens_hsa003800.24941620

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