CDKN1C

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: This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1substrate-independent telencephalic tangential migration (GO:0021826)6.14317088
2substrate-independent telencephalic tangential interneuron migration (GO:0021843)6.14317088
3behavioral response to nicotine (GO:0035095)6.14170585
4cartilage development involved in endochondral bone morphogenesis (GO:0060351)6.13217712
5regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450915.83499451
6chondrocyte development (GO:0002063)5.74730645
7notochord development (GO:0030903)5.65685567
8positive regulation of growth hormone secretion (GO:0060124)5.64070963
9cartilage condensation (GO:0001502)5.18222853
10cell aggregation (GO:0098743)5.18222853
11cell proliferation involved in kidney development (GO:0072111)4.78063026
12limb bud formation (GO:0060174)4.68005059
13chondrocyte proliferation (GO:0035988)4.66962110
14cell proliferation involved in metanephros development (GO:0072203)4.64421112
15collagen fibril organization (GO:0030199)4.51037017
16embryonic skeletal joint morphogenesis (GO:0060272)4.47965315
17endocardial cushion morphogenesis (GO:0003203)4.44952845
18mesenchyme morphogenesis (GO:0072132)4.43772427
19mesenchymal cell proliferation (GO:0010463)4.40173992
20keratan sulfate catabolic process (GO:0042340)4.33413034
21presynaptic membrane organization (GO:0097090)4.33123503
22axonal fasciculation (GO:0007413)4.32306876
23regulation of growth hormone secretion (GO:0060123)4.31137125
24negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)4.28073118
25lung vasculature development (GO:0060426)4.19539419
26paraxial mesoderm development (GO:0048339)4.16970622
27pyrimidine nucleobase catabolic process (GO:0006208)4.07472812
28regulation of transforming growth factor beta2 production (GO:0032909)4.03527239
29regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)3.97258248
30dendritic spine morphogenesis (GO:0060997)3.97065388
31neuronal ion channel clustering (GO:0045161)3.89419468
32positive regulation of gastrulation (GO:2000543)3.85488682
33axon ensheathment in central nervous system (GO:0032291)3.84986210
34central nervous system myelination (GO:0022010)3.84986210
35insulin-like growth factor receptor signaling pathway (GO:0048009)3.79046788
36forebrain neuron differentiation (GO:0021879)3.78694229
37positive regulation of cartilage development (GO:0061036)3.76862516
38glomerular basement membrane development (GO:0032836)3.76462422
39neurofilament cytoskeleton organization (GO:0060052)3.73210710
40neuron recognition (GO:0008038)3.69851583
41lymph vessel development (GO:0001945)3.65211918
42cartilage development (GO:0051216)3.64569361
43exocrine pancreas development (GO:0031017)3.64533506
44bone trabecula formation (GO:0060346)3.62721725
45dentate gyrus development (GO:0021542)3.58177832
46spinal cord association neuron differentiation (GO:0021527)3.56678622
47positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.55267582
48nucleobase catabolic process (GO:0046113)3.51393240
49positive regulation of hormone biosynthetic process (GO:0046886)3.50786460
50endothelial cell morphogenesis (GO:0001886)3.48481332
51parturition (GO:0007567)3.42167066
52negative regulation of cytosolic calcium ion concentration (GO:0051481)3.41538243
53chondrocyte differentiation (GO:0002062)3.37372282
54positive regulation of chondrocyte differentiation (GO:0032332)3.37176062
55heart valve formation (GO:0003188)3.37154521
56regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.35144936
57collagen catabolic process (GO:0030574)3.34840483
58collagen metabolic process (GO:0032963)3.34426668
59cellular response to BMP stimulus (GO:0071773)3.32930892
60response to BMP (GO:0071772)3.32930892
61ganglion development (GO:0061548)3.32143127
62heart valve morphogenesis (GO:0003179)3.30026862
63glomerular visceral epithelial cell development (GO:0072015)3.29621869
64negative regulation of smooth muscle cell differentiation (GO:0051151)3.28739369
65positive regulation of endothelial cell differentiation (GO:0045603)3.26520610
66positive regulation of stem cell differentiation (GO:2000738)3.22537388
67positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.22507099
68prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060523.22376038
69locomotory exploration behavior (GO:0035641)3.21630761
70negative regulation of striated muscle cell apoptotic process (GO:0010664)3.21301702
71cell proliferation in forebrain (GO:0021846)3.21108641
72positive regulation of epithelial to mesenchymal transition (GO:0010718)3.19701070
73cerebellar Purkinje cell differentiation (GO:0021702)3.18747879
74cell migration in hindbrain (GO:0021535)3.18380484
75regulation of smooth muscle cell differentiation (GO:0051150)3.18175579
76axon extension involved in axon guidance (GO:0048846)3.17273201
77neuron projection extension involved in neuron projection guidance (GO:1902284)3.17273201
78presynaptic membrane assembly (GO:0097105)3.16617697
79endochondral ossification (GO:0001958)3.16219086
80replacement ossification (GO:0036075)3.16219086
81membrane repolarization during action potential (GO:0086011)3.14713949
82negative regulation of chondrocyte differentiation (GO:0032331)3.13356771
83multicellular organismal macromolecule metabolic process (GO:0044259)3.13193313
84body morphogenesis (GO:0010171)3.12743713
85glycerophospholipid catabolic process (GO:0046475)3.12429706
86regulation of heart morphogenesis (GO:2000826)3.12036756
87regulation of cartilage development (GO:0061035)3.11951100
88positive regulation of extracellular matrix organization (GO:1903055)3.10732802
89multicellular organismal catabolic process (GO:0044243)3.09625899
90tachykinin receptor signaling pathway (GO:0007217)3.09176294
91organ formation (GO:0048645)3.08925307
92auditory receptor cell differentiation (GO:0042491)3.08695741
93hippo signaling (GO:0035329)3.07539810
94retinal ganglion cell axon guidance (GO:0031290)3.07127408
95regulation of chondrocyte differentiation (GO:0032330)3.05837685
96negative regulation of cardiac muscle cell apoptotic process (GO:0010667)3.05818463
97regulation of cardioblast differentiation (GO:0051890)3.05486099
98epithelial to mesenchymal transition (GO:0001837)3.04543731
99regulation of non-canonical Wnt signaling pathway (GO:2000050)3.04259471
100membrane repolarization (GO:0086009)3.03836619
101proteoglycan metabolic process (GO:0006029)3.03822427
102cell migration involved in heart development (GO:0060973)3.02334678
103glomerulus development (GO:0032835)3.01192868
104neural crest cell development (GO:0014032)3.00820159
105postsynaptic membrane organization (GO:0001941)3.00195761
106cardiac epithelial to mesenchymal transition (GO:0060317)3.00127392
107endocrine pancreas development (GO:0031018)2.98463654
108negative regulation of cartilage development (GO:0061037)2.97536563
109glucocorticoid biosynthetic process (GO:0006704)2.97305365
110planar cell polarity pathway involved in neural tube closure (GO:0090179)2.95385072
111multicellular organismal metabolic process (GO:0044236)2.95114979
112synaptic transmission, cholinergic (GO:0007271)2.94641918
113* skeletal system development (GO:0001501)2.93044918
114regulation of endothelial cell differentiation (GO:0045601)2.92762214
115regulation of synapse structural plasticity (GO:0051823)2.90725717
116auditory behavior (GO:0031223)2.90362848
117synapse assembly (GO:0007416)2.90192023
118negative regulation of axon extension involved in axon guidance (GO:0048843)2.90078135
119branching involved in prostate gland morphogenesis (GO:0060442)2.89288854
120glomerular epithelial cell development (GO:0072310)2.88569119
121chemosensory behavior (GO:0007635)2.87197057
122mesenchymal cell differentiation (GO:0048762)2.87075588
123negative regulation of stem cell proliferation (GO:2000647)2.86730924
124regulation of membrane repolarization (GO:0060306)2.84957283
125short-term memory (GO:0007614)2.84557632
126basement membrane organization (GO:0071711)2.82480339
127protein polyglutamylation (GO:0018095)2.82015732
128branching involved in ureteric bud morphogenesis (GO:0001658)2.81784267
129exploration behavior (GO:0035640)2.80277376
130cardiac myofibril assembly (GO:0055003)2.79815572
131membrane repolarization during cardiac muscle cell action potential (GO:0086013)2.78931349
132membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.78217824
133regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.77607759
134nephron tubule morphogenesis (GO:0072078)2.77557525
135nephron epithelium morphogenesis (GO:0072088)2.77557525
136mesenchyme development (GO:0060485)2.77299534
137type B pancreatic cell development (GO:0003323)2.77188779
138gastrulation with mouth forming second (GO:0001702)2.77170612
139regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act2.76809983
140positive regulation of oligodendrocyte differentiation (GO:0048714)2.76493211
141negative regulation of axon guidance (GO:1902668)2.76071505
142diaphragm development (GO:0060539)2.75371974
143regulation of glycogen (starch) synthase activity (GO:2000465)2.74542400
144adult walking behavior (GO:0007628)2.73402410
145lung secretory cell differentiation (GO:0061140)2.72910700
146atrioventricular valve morphogenesis (GO:0003181)2.72266140
147metanephric mesenchyme development (GO:0072075)2.72065750
148glandular epithelial cell differentiation (GO:0002067)2.72023420
149negative regulation of Ras GTPase activity (GO:0034261)2.71650007
150neuron fate determination (GO:0048664)2.71095893
151transmission of nerve impulse (GO:0019226)2.70668934
152positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)2.70188868
153negative regulation of glycogen biosynthetic process (GO:0045719)2.70018208
154cell differentiation in spinal cord (GO:0021515)2.68364662
155atrial septum morphogenesis (GO:0060413)2.67521587
156negative regulation of response to food (GO:0032096)2.64901700
157negative regulation of appetite (GO:0032099)2.64901700
158regulation of mesenchymal cell apoptotic process (GO:2001053)2.63604752
159protein retention in ER lumen (GO:0006621)2.63483384
160kidney mesenchyme development (GO:0072074)2.63129965
161regulation of extracellular matrix disassembly (GO:0010715)2.62561745
162olfactory bulb development (GO:0021772)2.61903678
163epithelial cilium movement (GO:0003351)2.61022852
164regulation of microtubule-based movement (GO:0060632)2.59680027
165adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.57896529
166nonmotile primary cilium assembly (GO:0035058)2.57194803
167mechanosensory behavior (GO:0007638)2.56698554
168detection of calcium ion (GO:0005513)2.55417110
169positive regulation of respiratory burst (GO:0060267)2.54451640
170viral transcription (GO:0019083)2.54234112
171nitric oxide mediated signal transduction (GO:0007263)2.50324500
172negative regulation of gluconeogenesis (GO:0045721)2.49770386
173cAMP-mediated signaling (GO:0019933)2.49420884
174embryonic retina morphogenesis in camera-type eye (GO:0060059)2.48939213
175cell differentiation in hindbrain (GO:0021533)2.45938056
176axon extension (GO:0048675)2.43767467
177mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.42650274
178regulation of cilium movement (GO:0003352)2.42644953
179protein localization to synapse (GO:0035418)2.39271669
180negative regulation of catecholamine secretion (GO:0033604)2.38867595
181translational termination (GO:0006415)2.38227065
182growth hormone secretion (GO:0030252)2.37154231
183synaptic vesicle maturation (GO:0016188)2.37065821
184establishment of protein localization to mitochondrial membrane (GO:0090151)2.37050670
185intraciliary transport (GO:0042073)2.36865546
186head development (GO:0060322)2.34304750
187synaptic transmission, dopaminergic (GO:0001963)2.34018157
188regulation of type B pancreatic cell apoptotic process (GO:2000674)2.32312879
189urogenital system development (GO:0001655)2.31375363
190brain morphogenesis (GO:0048854)2.31162026
191regulation of dopamine uptake involved in synaptic transmission (GO:0051584)2.30583300
192regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)2.30583300
193protein localization to cilium (GO:0061512)2.29777218
194regulation of feeding behavior (GO:0060259)2.29074970
195telencephalon development (GO:0021537)2.28843738
196neuron cell-cell adhesion (GO:0007158)2.27356959

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.39096226
2TRIM28_21343339_ChIP-Seq_HEK293_Human6.14103424
3TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat4.46199092
4RBPJ_22232070_ChIP-Seq_NCS_Mouse4.28654976
5NR4A2_19515692_ChIP-ChIP_MN9D_Mouse4.09456474
6HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse3.70923613
7WT1_19549856_ChIP-ChIP_CCG9911_Human3.20372289
8HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse3.00145795
9TP63_19390658_ChIP-ChIP_HaCaT_Human2.92684495
10EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.85555316
11* REST_21632747_ChIP-Seq_MESCs_Mouse2.61571717
12SALL1_21062744_ChIP-ChIP_HESCs_Human2.55861869
13GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.55713369
14* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.50532485
15* PHC1_16625203_ChIP-ChIP_MESCs_Mouse2.48937390
16* EED_16625203_ChIP-ChIP_MESCs_Mouse2.45241376
17* EZH2_27294783_Chip-Seq_ESCs_Mouse2.43460404
18RARG_19884340_ChIP-ChIP_MEFs_Mouse2.42235471
19CLOCK_20551151_ChIP-Seq_293T_Human2.38704991
20* EZH2_27304074_Chip-Seq_ESCs_Mouse2.33967610
21* SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.28206340
22FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.27858960
23EP300_21415370_ChIP-Seq_HL-1_Mouse2.27301056
24HIF1A_21447827_ChIP-Seq_MCF-7_Human2.25130125
25ESR1_21235772_ChIP-Seq_MCF-7_Human2.22014775
26PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.20462367
27ESR1_20079471_ChIP-ChIP_T-47D_Human2.19220975
28E2F7_22180533_ChIP-Seq_HELA_Human2.18197629
29REST_18959480_ChIP-ChIP_MESCs_Mouse2.13156424
30CBX2_27304074_Chip-Seq_ESCs_Mouse2.11628571
31* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.03689209
32* ISL1_27105846_Chip-Seq_CPCs_Mouse2.02408148
33SALL4_18804426_ChIP-ChIP_XEN_Mouse1.99994634
34ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.99599622
35POU5F1_16153702_ChIP-ChIP_HESCs_Human1.93187262
36TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.93058936
37* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.89149960
38RNF2_27304074_Chip-Seq_NSC_Mouse1.87895986
39BMI1_23680149_ChIP-Seq_NPCS_Mouse1.87182340
40* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.83883715
41AR_21572438_ChIP-Seq_LNCaP_Human1.82189787
42CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.81830563
43* EZH2_18974828_ChIP-Seq_MESCs_Mouse1.74295923
44* RNF2_18974828_ChIP-Seq_MESCs_Mouse1.74295923
45CJUN_26792858_Chip-Seq_BT549_Human1.73741664
46TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.73472488
47CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.72548814
48ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.72431033
49* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.70780564
50TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.68543988
51* TP53_20018659_ChIP-ChIP_R1E_Mouse1.65998044
52* SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.62691582
53BRD4_25478319_ChIP-Seq_HGPS_Human1.59260215
54ZNF274_21170338_ChIP-Seq_K562_Hela1.58283499
55OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.56088914
56TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.53007869
57RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.46407861
58RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.46058117
59ZFP57_27257070_Chip-Seq_ESCs_Mouse1.43471146
60SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.41079360
61AR_21909140_ChIP-Seq_LNCAP_Human1.40021027
62CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.39441350
63CDX2_20551321_ChIP-Seq_CACO-2_Human1.37724919
64TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.34251127
65NFIB_24661679_ChIP-Seq_LUNG_Mouse1.33654408
66GBX2_23144817_ChIP-Seq_PC3_Human1.33040423
67RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.32634428
68ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.32318046
69VDR_22108803_ChIP-Seq_LS180_Human1.31718653
70ESR2_21235772_ChIP-Seq_MCF-7_Human1.31142051
71NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.30391904
72IKZF1_21737484_ChIP-ChIP_HCT116_Human1.29564547
73EWS_26573619_Chip-Seq_HEK293_Human1.29381664
74KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.29354115
75* ERG_21242973_ChIP-ChIP_JURKAT_Human1.28525560
76* JARID2_20075857_ChIP-Seq_MESCs_Mouse1.27812512
77CDX2_19796622_ChIP-Seq_MESCs_Mouse1.26464453
78CTBP2_25329375_ChIP-Seq_LNCAP_Human1.25684283
79CTCF_27219007_Chip-Seq_Bcells_Human1.25078924
80FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human1.23813372
81DROSHA_22980978_ChIP-Seq_HELA_Human1.23574039
82* RNF2_27304074_Chip-Seq_ESCs_Mouse1.23472468
83RING1B_27294783_Chip-Seq_NPCs_Mouse1.23029846
84* JARID2_20064375_ChIP-Seq_MESCs_Mouse1.21834811
85ZNF217_24962896_ChIP-Seq_MCF-7_Human1.21443558
86* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.20183578
87CTBP1_25329375_ChIP-Seq_LNCAP_Human1.19943339
88RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.17480300
89PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.15087494
90* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.14936038
91ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.14059057
92SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.13007762
93NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.12417897
94SMAD_19615063_ChIP-ChIP_OVARY_Human1.12027342
95TP53_18474530_ChIP-ChIP_U2OS_Human1.12017359
96MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.09586182
97IGF1R_20145208_ChIP-Seq_DFB_Human1.09433056
98KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.09209004
99DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.08450751
100KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.08111593
101* SA1_22415368_ChIP-Seq_MEFs_Mouse1.07689403
102GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.07592634
103ETV2_25802403_ChIP-Seq_MESCs_Mouse1.06591205
104SMAD3_21741376_ChIP-Seq_EPCs_Human1.05897369
105RING1B_27294783_Chip-Seq_ESCs_Mouse1.04842952
106FOXM1_26456572_ChIP-Seq_MCF-7_Human1.04515611
107SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.03681876
108SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.03681876
109SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.03422929
110SMAD4_21799915_ChIP-Seq_A2780_Human1.03194529
111P300_19829295_ChIP-Seq_ESCs_Human1.03048229
112SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.02680646
113PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.02283109
114RXR_22108803_ChIP-Seq_LS180_Human1.02231193
115TOP2B_26459242_ChIP-Seq_MCF-7_Human1.01446704
116MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.01422384
117MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.01377213
118SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.01366274
119EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.01068978
120RARB_27405468_Chip-Seq_BRAIN_Mouse1.00505788
121P53_22127205_ChIP-Seq_FIBROBLAST_Human0.99956574
122FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.99782472
123TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.99714939
124POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.99714939
125STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.99368402
126AR_25329375_ChIP-Seq_VCAP_Human0.98769136
127TBX20_22080862_ChIP-Seq_HEART_Mouse0.98498917
128TBX20_22328084_ChIP-Seq_HEART_Mouse0.98498917
129TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96793085
130SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.96262794
131SOX2_18555785_ChIP-Seq_MESCs_Mouse0.96193329
132TCF4_18268006_ChIP-ChIP_LS174T_Human0.96156556
133NANOG_16153702_ChIP-ChIP_HESCs_Human0.94219883
134GF1B_26923725_Chip-Seq_HPCs_Mouse0.93556556
135SOX17_20123909_ChIP-Seq_XEN_Mouse0.93180460
136STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.91508321
137PIAS1_25552417_ChIP-Seq_VCAP_Human0.90837682
138GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90101159
139WT1_25993318_ChIP-Seq_PODOCYTE_Human0.90041448
140NCOR_22424771_ChIP-Seq_293T_Human0.89523243
141MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.89024573
142JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.87731486
143CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.86508083
144SOX9_26525672_Chip-Seq_Limbbuds_Mouse0.86479984
145* TP63_17297297_ChIP-ChIP_HaCaT_Human0.86201563
146LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.86135450
147DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.86060032
148UBF1/2_26484160_Chip-Seq_HMECs_Human0.85676229
149SMAD3_21741376_ChIP-Seq_ESCs_Human0.85476893
150VDR_24787735_ChIP-Seq_THP-1_Human0.85396066
151NR3C1_21868756_ChIP-Seq_MCF10A_Human0.85351451
152SMC1_22415368_ChIP-Seq_MEFs_Mouse0.85323763
153MYC_18555785_ChIP-Seq_MESCs_Mouse0.84991538
154KLF5_20875108_ChIP-Seq_MESCs_Mouse0.84810053
155SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.84734881
156UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.84651939
157CBP_20019798_ChIP-Seq_JUKART_Human0.82798092
158IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.82798092
159TCF4_23295773_ChIP-Seq_U87_Human0.79832460
160TAL1_26923725_Chip-Seq_HPCs_Mouse0.79627964
161TP53_22573176_ChIP-Seq_HFKS_Human0.78574937
162IRF1_19129219_ChIP-ChIP_H3396_Human0.78425838
163RUNX2_22187159_ChIP-Seq_PCA_Human0.77950570
164SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.77309132
165CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.76725081
166MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.76442590
167NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.76334905
168SOX2_21211035_ChIP-Seq_LN229_Gbm0.76073703
169GATA1_26923725_Chip-Seq_HPCs_Mouse0.75461667

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003122_maternal_imprinting5.55392065
2MP0002282_abnormal_trachea_morphology3.54277799
3MP0005503_abnormal_tendon_morphology3.42120138
4MP0009250_abnormal_appendicular_skeleto3.25329604
5* MP0003121_genomic_imprinting3.15923333
6* MP0003123_paternal_imprinting3.13681456
7MP0005423_abnormal_somatic_nervous3.09093279
8MP0004272_abnormal_basement_membrane3.06285911
9MP0003880_abnormal_central_pattern3.04374608
10MP0006276_abnormal_autonomic_nervous2.98093811
11MP0010030_abnormal_orbit_morphology2.93820037
12* MP0003787_abnormal_imprinting2.76090370
13MP0004134_abnormal_chest_morphology2.68029362
14MP0002822_catalepsy2.67602523
15MP0002909_abnormal_adrenal_gland2.60511666
16MP0000778_abnormal_nervous_system2.55567466
17* MP0003385_abnormal_body_wall2.50907086
18MP0002653_abnormal_ependyma_morphology2.42190806
19MP0009697_abnormal_copulation2.34270070
20* MP0000163_abnormal_cartilage_morphology2.28491295
21MP0002933_joint_inflammation2.22752847
22MP0006054_spinal_hemorrhage2.21154737
23MP0008438_abnormal_cutaneous_collagen2.20021569
24MP0009379_abnormal_foot_pigmentation2.17319887
25MP0000537_abnormal_urethra_morphology2.16233135
26MP0006292_abnormal_olfactory_placode2.13102161
27MP0000566_synostosis2.12953336
28MP0002638_abnormal_pupillary_reflex2.00295876
29MP0003011_delayed_dark_adaptation1.99195610
30MP0008877_abnormal_DNA_methylation1.98355559
31MP0002557_abnormal_social/conspecific_i1.96807959
32* MP0003942_abnormal_urinary_system1.96696326
33* MP0002115_abnormal_skeleton_extremities1.96647567
34MP0000049_abnormal_middle_ear1.93225427
35MP0009053_abnormal_anal_canal1.92592172
36MP0005508_abnormal_skeleton_morphology1.91402874
37MP0002272_abnormal_nervous_system1.88698230
38MP0009384_cardiac_valve_regurgitation1.85342046
39MP0002184_abnormal_innervation1.84951568
40MP0002160_abnormal_reproductive_system1.84775324
41MP0002938_white_spotting1.83516187
42MP0001879_abnormal_lymphatic_vessel1.82624700
43MP0000955_abnormal_spinal_cord1.82452689
44MP0001188_hyperpigmentation1.80796794
45MP0000762_abnormal_tongue_morphology1.80606900
46MP0004885_abnormal_endolymph1.78981269
47MP0004142_abnormal_muscle_tone1.78099419
48MP0003315_abnormal_perineum_morphology1.77218495
49MP0003937_abnormal_limbs/digits/tail_de1.74069184
50MP0001440_abnormal_grooming_behavior1.72731437
51* MP0002109_abnormal_limb_morphology1.72590361
52* MP0002113_abnormal_skeleton_development1.71392428
53MP0001986_abnormal_taste_sensitivity1.70425057
54MP0004859_abnormal_synaptic_plasticity1.69555467
55MP0003941_abnormal_skin_development1.68493298
56MP0002837_dystrophic_cardiac_calcinosis1.67180778
57MP0003635_abnormal_synaptic_transmissio1.66844811
58MP0008789_abnormal_olfactory_epithelium1.64767151
59MP0005623_abnormal_meninges_morphology1.62685810
60MP0003890_abnormal_embryonic-extraembry1.60752954
61MP0009745_abnormal_behavioral_response1.60243265
62MP0010368_abnormal_lymphatic_system1.60157185
63MP0000534_abnormal_ureter_morphology1.58064649
64MP0009046_muscle_twitch1.57770372
65MP0003567_abnormal_fetal_cardiomyocyte1.56933873
66* MP0003755_abnormal_palate_morphology1.56755899
67MP0004084_abnormal_cardiac_muscle1.56749838
68MP0002572_abnormal_emotion/affect_behav1.56433588
69MP0002249_abnormal_larynx_morphology1.56367011
70MP0005551_abnormal_eye_electrophysiolog1.55639102
71MP0003705_abnormal_hypodermis_morpholog1.54858516
72MP0005499_abnormal_olfactory_system1.54067662
73MP0005394_taste/olfaction_phenotype1.54067662
74MP0002928_abnormal_bile_duct1.52698948
75MP0003115_abnormal_respiratory_system1.52457768
76MP0003279_aneurysm1.52349352
77MP0004270_analgesia1.50815007
78* MP0004197_abnormal_fetal_growth/weight/1.49357041
79MP0002063_abnormal_learning/memory/cond1.49285405
80MP0006072_abnormal_retinal_apoptosis1.48506938
81MP0005645_abnormal_hypothalamus_physiol1.47190526
82* MP0002116_abnormal_craniofacial_bone1.47067622
83* MP0003935_abnormal_craniofacial_develop1.46188254
84MP0001984_abnormal_olfaction1.46180360
85MP0004133_heterotaxia1.45924894
86MP0001905_abnormal_dopamine_level1.45886225
87MP0002932_abnormal_joint_morphology1.45136723
88MP0001485_abnormal_pinna_reflex1.44496006
89MP0002882_abnormal_neuron_morphology1.41084815
90MP0003195_calcinosis1.39846669
91MP0002108_abnormal_muscle_morphology1.39759990
92MP0001944_abnormal_pancreas_morphology1.39008005
93MP0005646_abnormal_pituitary_gland1.38874680
94MP0005367_renal/urinary_system_phenotyp1.38188680
95MP0000516_abnormal_urinary_system1.38188680
96MP0002752_abnormal_somatic_nervous1.38066991
97MP0002089_abnormal_postnatal_growth/wei1.37220931
98MP0001486_abnormal_startle_reflex1.36151372
99MP0001529_abnormal_vocalization1.35858441
100MP0002734_abnormal_mechanical_nocicepti1.35260491
101MP0001299_abnormal_eye_distance/1.31419446
102MP0000631_abnormal_neuroendocrine_gland1.31272737
103MP0004742_abnormal_vestibular_system1.30859719
104MP0000428_abnormal_craniofacial_morphol1.30398528
105MP0003283_abnormal_digestive_organ1.29718362
106MP0002067_abnormal_sensory_capabilities1.28571228
107MP0002896_abnormal_bone_mineralization1.28450306
108MP0000432_abnormal_head_morphology1.28079692
109MP0001970_abnormal_pain_threshold1.27782608
110MP0002064_seizures1.27678397
111MP0003879_abnormal_hair_cell1.27027800
112* MP0002114_abnormal_axial_skeleton1.22711747
113MP0002102_abnormal_ear_morphology1.20267131
114MP0005275_abnormal_skin_tensile1.19547580
115MP0004924_abnormal_behavior1.19151057
116MP0005386_behavior/neurological_phenoty1.19151057
117MP0002876_abnormal_thyroid_physiology1.18452778
118MP0004811_abnormal_neuron_physiology1.17876670
119MP0001968_abnormal_touch/_nociception1.17294339
120MP0000767_abnormal_smooth_muscle1.17122317
121MP0005248_abnormal_Harderian_gland1.16728607
122MP0002233_abnormal_nose_morphology1.15793370
123* MP0003119_abnormal_digestive_system1.14675649
124MP0001502_abnormal_circadian_rhythm1.14131557
125MP0004130_abnormal_muscle_cell1.13747579
126MP0005389_reproductive_system_phenotype1.13640521
127MP0002111_abnormal_tail_morphology1.13576200
128MP0004264_abnormal_extraembryonic_tissu1.13247955
129MP0002733_abnormal_thermal_nociception1.12992178
130MP0000733_abnormal_muscle_development1.11292733
131MP0005253_abnormal_eye_physiology1.09749261
132MP0002697_abnormal_eye_size1.08853002
133* MP0001286_abnormal_eye_development1.06990371
134* MP0005195_abnormal_posterior_eye1.04701939
135MP0000026_abnormal_inner_ear1.02383427
136MP0006138_congestive_heart_failure1.00244305
137* MP0002152_abnormal_brain_morphology0.99992916
138MP0002925_abnormal_cardiovascular_devel0.98866208
139MP0005390_skeleton_phenotype0.97128687
140MP0000749_muscle_degeneration0.96409160
141* MP0001270_distended_abdomen0.94707854
142MP0002229_neurodegeneration0.94539218
143MP0005220_abnormal_exocrine_pancreas0.94224252
144MP0005448_abnormal_energy_balance0.93133909
145MP0005670_abnormal_white_adipose0.92644988
146MP0003861_abnormal_nervous_system0.89810802
147MP0004085_abnormal_heartbeat0.88947218
148MP0003566_abnormal_cell_adhesion0.88018835
149MP0000751_myopathy0.87884042
150MP0010386_abnormal_urinary_bladder0.86342429
151MP0002128_abnormal_blood_circulation0.85429592
152* MP0002088_abnormal_embryonic_growth/wei0.84889548
153MP0001542_abnormal_bone_strength0.84633532
154MP0001756_abnormal_urination0.84399623
155MP0005187_abnormal_penis_morphology0.83473624
156MP0001963_abnormal_hearing_physiology0.83326515
157* MP0000639_abnormal_adrenal_gland0.83135840
158MP0003646_muscle_fatigue0.82697605
159MP0001175_abnormal_lung_morphology0.82656156
160MP0005535_abnormal_body_temperature0.81852296
161* MP0003984_embryonic_growth_retardation0.81715300
162MP0008775_abnormal_heart_ventricle0.81330449
163MP0000266_abnormal_heart_morphology0.81325719
164MP0000427_abnormal_hair_cycle0.81117482
165MP0008995_early_reproductive_senescence0.80486743
166MP0002066_abnormal_motor_capabilities/c0.79902383
167MP0003938_abnormal_ear_development0.79825207
168MP0002693_abnormal_pancreas_physiology0.79189555
169MP0000538_abnormal_urinary_bladder0.78887768
170MP0003795_abnormal_bone_structure0.78789423
171MP0003953_abnormal_hormone_level0.76982341
172MP0003633_abnormal_nervous_system0.76956057
173* MP0002086_abnormal_extraembryonic_tissu0.76210153
174MP0001614_abnormal_blood_vessel0.75248055
175MP0001340_abnormal_eyelid_morphology0.74931539
176MP0004145_abnormal_muscle_electrophysio0.74872268
177MP0002972_abnormal_cardiac_muscle0.74813499
178* MP0002081_perinatal_lethality0.74139871
179MP0010630_abnormal_cardiac_muscle0.73742523
180MP0001697_abnormal_embryo_size0.73330356
181MP0001958_emphysema0.73173915
182* MP0005380_embryogenesis_phenotype0.71936909
183* MP0001672_abnormal_embryogenesis/_devel0.71936909
184MP0002751_abnormal_autonomic_nervous0.71344278
185MP0002127_abnormal_cardiovascular_syste0.70803213
186MP0002085_abnormal_embryonic_tissue0.70617279
187MP0002084_abnormal_developmental_patter0.69995362
188MP0004484_altered_response_of0.69965647
189* MP0005193_abnormal_anterior_eye0.69765543
190MP0001544_abnormal_cardiovascular_syste0.68706072

Predicted human phenotypes

RankGene SetZ-score
1* Epiphyseal dysplasia (HP:0002656)7.21089370
2Irregular epiphyses (HP:0010582)7.07944203
3Vitreoretinal degeneration (HP:0000655)6.65762259
4Abnormal tarsal ossification (HP:0008369)5.12442904
5Hypoplastic ischia (HP:0003175)5.11179743
6Cupped ribs (HP:0000887)5.10449225
7Small epiphyses (HP:0010585)4.99987912
8Aplasia/Hypoplasia of the pubic bone (HP:0009104)4.75146189
9Metaphyseal cupping (HP:0003021)4.47749051
10Abnormality of the ischium (HP:0003174)4.46362331
11Myokymia (HP:0002411)4.24216722
12Mild short stature (HP:0003502)4.15944596
13Delayed epiphyseal ossification (HP:0002663)4.13488423
14Abnormal foot bone ossification (HP:0010675)3.99502368
15Genu varum (HP:0002970)3.96935386
16Flat capital femoral epiphysis (HP:0003370)3.93176847
17Flat acetabular roof (HP:0003180)3.86554611
18Neonatal short-limb short stature (HP:0008921)3.71823149
19Abnormality involving the epiphyses of the lower limbs (HP:0006500)3.61707282
20Abnormality of femoral epiphyses (HP:0006499)3.61707282
21Agitation (HP:0000713)3.50900918
22Abnormality of carpal bone ossification (HP:0006257)3.47547541
23* Metaphyseal dysplasia (HP:0100255)3.46871149
24Molar tooth sign on MRI (HP:0002419)3.40514459
25Abnormality of midbrain morphology (HP:0002418)3.40514459
26Absent epiphyses (HP:0010577)3.33462516
27Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)3.33462516
28Abnormality of incisor morphology (HP:0011063)3.33100922
29Hyperthyroidism (HP:0000836)3.31826031
30Osteoarthritis (HP:0002758)3.27660929
31Limb dystonia (HP:0002451)3.24426397
32Abnormality of the vertebral endplates (HP:0005106)3.22340884
33Abnormality of the epiphysis of the femoral head (HP:0010574)3.18624967
34Flattened epiphyses (HP:0003071)3.08991124
35Abnormality of the phalanges of the 2nd finger (HP:0009541)3.05367330
36Abnormal rod and cone electroretinograms (HP:0008323)3.04955408
37Abnormality of the pubic bones (HP:0003172)3.04355566
38Medial flaring of the eyebrow (HP:0010747)3.03123824
39Nephronophthisis (HP:0000090)2.99911073
40Pancreatic fibrosis (HP:0100732)2.99051656
41Enlarged penis (HP:0000040)2.94832363
42Abnormal hand bone ossification (HP:0010660)2.94751660
43Abnormal ossification of hand bones (HP:0005921)2.94450026
44Abnormality of the femoral head (HP:0003368)2.90899439
45Polyphagia (HP:0002591)2.88005080
46Arthropathy (HP:0003040)2.85323432
47Short femoral neck (HP:0100864)2.79143291
48Coxa vara (HP:0002812)2.76787842
49Enlarged epiphyses (HP:0010580)2.73580576
50Hypogonadotrophic hypogonadism (HP:0000044)2.73493263
51Gait imbalance (HP:0002141)2.72628634
52Anosmia (HP:0000458)2.71352089
53Irregular vertebral endplates (HP:0003301)2.70555868
54Exostoses (HP:0100777)2.70195534
55Mesomelia (HP:0003027)2.68744912
56Absent rod-and cone-mediated responses on ERG (HP:0007688)2.67299865
57Platyspondyly (HP:0000926)2.65241526
58Abnormality of the renal medulla (HP:0100957)2.64998484
59Limited hip movement (HP:0008800)2.64659811
60Fetal akinesia sequence (HP:0001989)2.64143968
61Broad phalanx (HP:0006009)2.64073383
62Abnormal vertebral ossification (HP:0100569)2.61282084
63Abnormality of cells of the erythroid lineage (HP:0012130)2.60820786
64Hip contracture (HP:0003273)2.57450975
65Amblyopia (HP:0000646)2.55995590
66Congenital malformation of the right heart (HP:0011723)2.55146788
67Double outlet right ventricle (HP:0001719)2.55146788
68Metaphyseal irregularity (HP:0003025)2.51833048
69Broad long bones (HP:0005622)2.51730091
70Rib fusion (HP:0000902)2.50603539
71Limited elbow extension (HP:0001377)2.50264516
72Thoracolumbar scoliosis (HP:0002944)2.49547141
73Congenital stationary night blindness (HP:0007642)2.49416272
74Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)2.48460903
75Broad thumb (HP:0011304)2.48088136
76Abnormality of the proximal phalanges of the hand (HP:0009834)2.48067896
77Epileptic encephalopathy (HP:0200134)2.47881955
78Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)2.44092206
79Long clavicles (HP:0000890)2.44068634
80Congenital primary aphakia (HP:0007707)2.41560811
81Anomalous pulmonary venous return (HP:0010772)2.40863643
82Broad phalanges of the hand (HP:0009768)2.39156922
83Thin ribs (HP:0000883)2.37545874
84Acute necrotizing encephalopathy (HP:0006965)2.37368201
85Nephrogenic diabetes insipidus (HP:0009806)2.36205927
86Fibular hypoplasia (HP:0003038)2.36100263
87Broad finger (HP:0001500)2.35737195
88Progressive macrocephaly (HP:0004481)2.33158858
89Abnormality of the 2nd finger (HP:0004100)2.32602977
90Chronic hepatic failure (HP:0100626)2.32598279
91Vaginal atresia (HP:0000148)2.31887877
92Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.29688214
93Short 4th metacarpal (HP:0010044)2.29688214
94Absent frontal sinuses (HP:0002688)2.29568636
95Pancreatic cysts (HP:0001737)2.29554359
96Hypoglycemic seizures (HP:0002173)2.29234451
97True hermaphroditism (HP:0010459)2.28020973
98Genital tract atresia (HP:0001827)2.27083228
99Cervical subluxation (HP:0003308)2.26110922
100Tubular atrophy (HP:0000092)2.25781514
101Bony spicule pigmentary retinopathy (HP:0007737)2.25242840
102Waddling gait (HP:0002515)2.24985108
103Short middle phalanx of finger (HP:0005819)2.24227371
104* Abnormal pancreas size (HP:0012094)2.24205055
105Abnormality of the phalanges of the 5th finger (HP:0004213)2.21419505
106Abnormal drinking behavior (HP:0030082)2.20611278
107Polydipsia (HP:0001959)2.20611278
108Poor suck (HP:0002033)2.19975384
109Chorioretinal atrophy (HP:0000533)2.19571950
110Asymmetry of the thorax (HP:0001555)2.18885188
111Focal seizures (HP:0007359)2.18847374
112Abnormality of magnesium homeostasis (HP:0004921)2.17009817
113Type II lissencephaly (HP:0007260)2.16788364
114Hyperphosphatemia (HP:0002905)2.16119580
115* Hepatoblastoma (HP:0002884)2.15285531
116Broad-based gait (HP:0002136)2.14523202
117Hypomagnesemia (HP:0002917)2.14375976
118Short 5th finger (HP:0009237)2.12085624
119Sprengel anomaly (HP:0000912)2.10245031
120Renal duplication (HP:0000075)2.10059547
121Disproportionate short-trunk short stature (HP:0003521)2.10040113
122Reticulocytopenia (HP:0001896)2.08853792
123Stillbirth (HP:0003826)2.08039940
124* Micromelia (HP:0002983)2.06076933
125EEG with generalized epileptiform discharges (HP:0011198)2.05569362
126Protrusio acetabuli (HP:0003179)2.05311069
127Abolished electroretinogram (ERG) (HP:0000550)2.05301095
128Abnormal number of erythroid precursors (HP:0012131)2.04337968
129Abnormality of the metopic suture (HP:0005556)2.04287189
130Cystic liver disease (HP:0006706)2.04116361
131Epileptiform EEG discharges (HP:0011182)2.03924900
132Abnormality of the distal phalanx of the thumb (HP:0009617)2.02856540
133Drooling (HP:0002307)2.01910985
134Acute encephalopathy (HP:0006846)2.01714079
135Abnormal mitochondria in muscle tissue (HP:0008316)2.01412259
136Progressive cerebellar ataxia (HP:0002073)2.01080501
137Abnormality of the pulmonary veins (HP:0011718)2.00949036
138Pachygyria (HP:0001302)2.00100175
139Ketoacidosis (HP:0001993)1.99687535
140Mitochondrial inheritance (HP:0001427)1.99219100
141Aplasia/Hypoplasia of the vertebrae (HP:0008515)1.99059553
142Vertebral hypoplasia (HP:0008417)1.99059553
143Hypsarrhythmia (HP:0002521)1.98764565
144Abnormality of the vitreous humor (HP:0004327)1.98759106
145Protuberant abdomen (HP:0001538)1.97021933
146Decreased circulating renin level (HP:0003351)1.96917824
147Hemiparesis (HP:0001269)1.95679664
148Abnormality of the incisor (HP:0000676)1.95484465
149Spastic tetraplegia (HP:0002510)1.95339754
150Ovoid vertebral bodies (HP:0003300)1.92656621
151Aplasia/hypoplasia of the femur (HP:0005613)1.92508965
152Patent foramen ovale (HP:0001655)1.92085551
153Aplasia/Hypoplasia of the 5th finger (HP:0006262)1.91518246
154Poor coordination (HP:0002370)1.91457121
155Wide anterior fontanel (HP:0000260)1.91220967
156Abnormality of the acetabulum (HP:0003170)1.91104062
157Pendular nystagmus (HP:0012043)1.90958062
158Hyperventilation (HP:0002883)1.90149639
159Optic nerve hypoplasia (HP:0000609)1.90130371
160Aplasia/Hypoplasia involving the pelvis (HP:0009103)1.89381896
161Short ribs (HP:0000773)1.89123180
162Glossoptosis (HP:0000162)1.88163105
163Hyperinsulinemic hypoglycemia (HP:0000825)1.88070500
164Hypoplastic pelvis (HP:0008839)1.87827800
165Hyperphosphaturia (HP:0003109)1.87681219
166Intestinal atresia (HP:0011100)1.87503200
167Abnormality of the labia minora (HP:0012880)1.85990493
168Anencephaly (HP:0002323)1.85849182
169Abnormality of the intervertebral disk (HP:0005108)1.85809388
170Lumbar hyperlordosis (HP:0002938)1.85406508
171Impaired vibration sensation in the lower limbs (HP:0002166)1.83047041
172Macroorchidism (HP:0000053)1.82918436
173Sclerocornea (HP:0000647)1.82842752
174Male pseudohermaphroditism (HP:0000037)1.82613311
175Narrow forehead (HP:0000341)1.82595348
176Prominent metopic ridge (HP:0005487)1.82430732
177Abnormality of the radial head (HP:0003995)1.81951701
178Broad palm (HP:0001169)1.81821825
179Prolonged QT interval (HP:0001657)1.81817442
180Polyuria (HP:0000103)1.81637660
181Abnormality of the middle phalanges of the toes (HP:0010183)1.81350756
182Abnormality of renal excretion (HP:0011036)1.81288253
183Hip dysplasia (HP:0001385)1.80885667
184Labial hypoplasia (HP:0000066)1.80527172
185Abnormality of the renal cortex (HP:0011035)1.80379983
186Spinal cord compression (HP:0002176)1.79116881
187Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.79059015
188Excessive salivation (HP:0003781)1.78841097
189Aplasia/Hypoplasia of the spleen (HP:0010451)1.78836500
190Deep palmar crease (HP:0006191)1.78657866
191Vertebral clefting (HP:0008428)1.78010800
192Dislocated radial head (HP:0003083)1.77859977
193Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.77757365
194Specific learning disability (HP:0001328)1.76562115
195Broad toe (HP:0001837)1.76346926
196Febrile seizures (HP:0002373)1.76026942
197Anophthalmia (HP:0000528)1.75501363
198Anterior segment dysgenesis (HP:0007700)1.75410777
199Cerebellar dysplasia (HP:0007033)1.74610279
200Tachypnea (HP:0002789)1.74491128

Predicted kinase interactions (KEA)

RankGene SetZ-score
1STK38L5.51292720
2STK244.16655344
3DDR23.76213185
4MAP3K33.72747683
5NTRK33.43258795
6STK163.28399896
7CASK3.28229939
8LATS13.00863656
9EPHB22.90685732
10MARK12.69290739
11NUAK12.45356213
12TGFBR12.44976321
13STK32.24413318
14TIE12.16945180
15OBSCN2.16291521
16DYRK22.14179644
17ERBB32.13485192
18PINK12.12488766
19PRKG22.09335167
20MAP3K91.85760019
21NME11.84351657
22PRKD31.80432479
23PRKCG1.75776362
24MAP2K71.74317883
25MAP3K41.71269871
26MINK11.70424148
27GRK11.70354603
28ADRBK21.68308046
29TRIB31.67166240
30PKN21.67149452
31MKNK11.65579207
32BCR1.64101996
33NTRK21.63908148
34KSR11.59301328
35SGK2231.57512195
36SGK4941.57512195
37LIMK11.56298941
38PNCK1.50353100
39TNIK1.49939668
40MKNK21.49712257
41STK111.49457379
42WNK31.49059946
43CDK191.48922560
44CAMK1G1.43612688
45LATS21.40511103
46TYRO31.36974227
47WNK41.36865235
48PHKG11.30919415
49PHKG21.30919415
50PLK21.30011283
51EIF2AK11.24440975
52PLK31.24014567
53SGK21.20654365
54CAMK1D1.19559636
55DYRK1B1.19558375
56MELK1.19207272
57CSNK1G21.17661346
58SIK31.16961452
59ZAK1.15303491
60MAP4K21.14167646
61EPHA31.12363430
62PTK61.12250449
63SRPK11.11315546
64DAPK21.10605236
65CAMK11.08731598
66ICK1.08537003
67KDR1.04539353
68BRSK21.03631737
69MARK21.03538598
70MAP2K41.03206171
71PASK1.02240325
72PIK3CA1.02081151
73DYRK31.00494302
74PLK40.99576752
75ROCK10.99535983
76MAP3K110.97464985
77BMPR1B0.94969272
78BCKDK0.94547973
79AKT30.92234109
80RPS6KA20.91939524
81CLK10.91082309
82FGFR10.90149709
83SIK20.88803017
84TGFBR20.87942143
85CDK50.86949378
86ILK0.84932816
87PAK40.84571347
88TESK10.84560910
89NEK90.84259089
90TAOK20.83247253
91MAPK150.82755706
92PRKCH0.80301704
93PDGFRA0.77786992
94BRAF0.76730736
95PRKCZ0.76702189
96CSNK1G30.75349245
97MAP3K100.75274645
98SGK30.74751536
99INSRR0.74392803
100BRSK10.73348980
101CAMKK20.73340642
102PRKACA0.72338081
103CSNK1G10.71330981
104CAMKK10.70094574
105CDK80.69561446
106FGFR20.69216391
107OXSR10.68569842
108MYLK0.66838640
109ADRBK10.65380580
110PRKAA10.64899343
111PAK20.64205308
112ARAF0.63487159
113EIF2AK30.62884418
114RPS6KA40.62820117
115PTK2B0.62748162
116CDC70.61830099
117PTK20.61649434
118TRPM70.60867237
119GSK3A0.59922265
120NEK60.59493820
121CDK120.59418388
122MAPK130.58217682
123BUB10.57302183
124SGK10.56959207
125FRK0.55791390
126BRD40.55270057
127CSNK1E0.55040874
128STK390.54288916
129DYRK1A0.54107825
130MAP2K20.54040446
131MST40.51796806
132HIPK20.51645247
133PRKCE0.49562211
134FER0.48839862
135WNK10.47832710
136MAP2K30.47824616
137RPS6KA60.47355486
138PRKCQ0.46819360
139CAMK2A0.46735764
140ERBB20.46095155
141MET0.45675086
142CDK70.45163422
143PIM10.44511839
144PRKCI0.42660418
145CSNK1A10.42539257
146MARK30.42442327
147PRKG10.42098055
148PKN10.42071966
149ACVR1B0.41522934
150ABL20.40443501
151CDK90.39379362
152MUSK0.39226623
153MAPK70.38647390
154CSNK1A1L0.36265351
155MTOR0.36254376
156NLK0.35591279
157CDC42BPA0.35317132
158RPS6KL10.35259338
159RPS6KC10.35259338
160LRRK20.35140917
161PRKCA0.35033463
162EPHA40.34923138
163AURKB0.33695662
164DMPK0.32508455
165ROCK20.30500803
166PAK30.30107798
167RPS6KB20.29607122
168PDGFRB0.29204558
169CHEK10.28702737
170CHEK20.26657194
171PLK10.23459833
172AKT20.22813229
173EIF2AK20.22435065

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045124.45442191
2Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005324.17918766
3Protein digestion and absorption_Homo sapiens_hsa049744.05320985
4Maturity onset diabetes of the young_Homo sapiens_hsa049503.73616937
5Oxidative phosphorylation_Homo sapiens_hsa001903.07462099
6Basal cell carcinoma_Homo sapiens_hsa052173.03159788
7Hippo signaling pathway_Homo sapiens_hsa043902.92954859
8Hedgehog signaling pathway_Homo sapiens_hsa043402.89765946
9TGF-beta signaling pathway_Homo sapiens_hsa043502.65523486
10Focal adhesion_Homo sapiens_hsa045102.64502294
11Parkinsons disease_Homo sapiens_hsa050122.50359684
12Insulin secretion_Homo sapiens_hsa049112.47768351
13Nicotine addiction_Homo sapiens_hsa050332.42418081
14Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.08861498
15Phototransduction_Homo sapiens_hsa047442.07032291
16Adherens junction_Homo sapiens_hsa045202.03171663
17Synaptic vesicle cycle_Homo sapiens_hsa047212.00357638
18Dilated cardiomyopathy_Homo sapiens_hsa054141.98740916
19* Cell cycle_Homo sapiens_hsa041101.93468469
20Proteoglycans in cancer_Homo sapiens_hsa052051.92791044
21Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.83925049
22Alzheimers disease_Homo sapiens_hsa050101.80403627
23Collecting duct acid secretion_Homo sapiens_hsa049661.78737100
24Morphine addiction_Homo sapiens_hsa050321.77122561
25GABAergic synapse_Homo sapiens_hsa047271.72609897
26Glutamatergic synapse_Homo sapiens_hsa047241.69637342
27Dopaminergic synapse_Homo sapiens_hsa047281.69624064
28Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.68697058
29PI3K-Akt signaling pathway_Homo sapiens_hsa041511.67409900
30Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.63196447
31Cocaine addiction_Homo sapiens_hsa050301.62788479
32Circadian entrainment_Homo sapiens_hsa047131.58220527
33Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.58168178
34Wnt signaling pathway_Homo sapiens_hsa043101.57733592
35Axon guidance_Homo sapiens_hsa043601.57498583
36MicroRNAs in cancer_Homo sapiens_hsa052061.53786548
37Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.49732671
38Huntingtons disease_Homo sapiens_hsa050161.47547772
39Butanoate metabolism_Homo sapiens_hsa006501.43625805
40Notch signaling pathway_Homo sapiens_hsa043301.42243730
41Serotonergic synapse_Homo sapiens_hsa047261.39133650
42Small cell lung cancer_Homo sapiens_hsa052221.35775299
43Tight junction_Homo sapiens_hsa045301.34258230
44Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.32713105
45Regulation of autophagy_Homo sapiens_hsa041401.28919956
46Protein export_Homo sapiens_hsa030601.27739231
47Prostate cancer_Homo sapiens_hsa052151.27498850
48Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.26287175
49Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.26168702
50Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.23099919
51Cholinergic synapse_Homo sapiens_hsa047251.21484315
52alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.16552940
53Melanogenesis_Homo sapiens_hsa049161.15556354
54Pathways in cancer_Homo sapiens_hsa052001.14392315
55Ovarian steroidogenesis_Homo sapiens_hsa049131.12806779
56Linoleic acid metabolism_Homo sapiens_hsa005911.12118507
57Amphetamine addiction_Homo sapiens_hsa050311.11293624
58Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.11288058
59Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.11078874
60Spliceosome_Homo sapiens_hsa030401.08622455
61HTLV-I infection_Homo sapiens_hsa051661.07692821
62Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.07641389
63Renin secretion_Homo sapiens_hsa049241.06029192
64Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.05590234
65Aldosterone synthesis and secretion_Homo sapiens_hsa049251.04813905
66N-Glycan biosynthesis_Homo sapiens_hsa005101.03879249
67Type II diabetes mellitus_Homo sapiens_hsa049301.02954516
68AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.02486813
69Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.99166128
70Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.97053695
71RNA transport_Homo sapiens_hsa030130.96496444
72Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.95015060
73mRNA surveillance pathway_Homo sapiens_hsa030150.94905907
74Steroid biosynthesis_Homo sapiens_hsa001000.94862451
75Sphingolipid metabolism_Homo sapiens_hsa006000.93754173
76Colorectal cancer_Homo sapiens_hsa052100.93097796
77Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.92610473
78Ether lipid metabolism_Homo sapiens_hsa005650.90232610
79HIF-1 signaling pathway_Homo sapiens_hsa040660.88292831
80Oxytocin signaling pathway_Homo sapiens_hsa049210.88223660
81Olfactory transduction_Homo sapiens_hsa047400.87953007
82Renal cell carcinoma_Homo sapiens_hsa052110.86443647
83Thyroid cancer_Homo sapiens_hsa052160.86098663
84Rap1 signaling pathway_Homo sapiens_hsa040150.85803529
85Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.84448695
86RNA degradation_Homo sapiens_hsa030180.84200726
87Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.84150416
88Base excision repair_Homo sapiens_hsa034100.83668082
89Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.83075492
90Peroxisome_Homo sapiens_hsa041460.83041759
91Tryptophan metabolism_Homo sapiens_hsa003800.82595787
92Endometrial cancer_Homo sapiens_hsa052130.82055865
93Dorso-ventral axis formation_Homo sapiens_hsa043200.76190001
94Melanoma_Homo sapiens_hsa052180.75980050
95Carbohydrate digestion and absorption_Homo sapiens_hsa049730.74777140
96Propanoate metabolism_Homo sapiens_hsa006400.74106115
97Gastric acid secretion_Homo sapiens_hsa049710.73587309
98Oocyte meiosis_Homo sapiens_hsa041140.73450403
99Fatty acid degradation_Homo sapiens_hsa000710.72669507
100Lysine degradation_Homo sapiens_hsa003100.71935124
101cGMP-PKG signaling pathway_Homo sapiens_hsa040220.71564847
102Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.70838892
103Bladder cancer_Homo sapiens_hsa052190.70627039
104Basal transcription factors_Homo sapiens_hsa030220.69660886
105Regulation of actin cytoskeleton_Homo sapiens_hsa048100.69633978
106Primary bile acid biosynthesis_Homo sapiens_hsa001200.68287175
107cAMP signaling pathway_Homo sapiens_hsa040240.67784583
108Vascular smooth muscle contraction_Homo sapiens_hsa042700.67462773
109Galactose metabolism_Homo sapiens_hsa000520.65795226
110Chronic myeloid leukemia_Homo sapiens_hsa052200.64837515
111Leukocyte transendothelial migration_Homo sapiens_hsa046700.64327776
112Transcriptional misregulation in cancer_Homo sapiens_hsa052020.64113167
113Cardiac muscle contraction_Homo sapiens_hsa042600.63896786
114Nucleotide excision repair_Homo sapiens_hsa034200.63511310
115Viral myocarditis_Homo sapiens_hsa054160.62988147
116Fatty acid metabolism_Homo sapiens_hsa012120.61574190
117Taste transduction_Homo sapiens_hsa047420.61239590
118Salivary secretion_Homo sapiens_hsa049700.61103030
119Amoebiasis_Homo sapiens_hsa051460.60754762
120Glioma_Homo sapiens_hsa052140.60253646
121Calcium signaling pathway_Homo sapiens_hsa040200.60185907
122Thyroid hormone signaling pathway_Homo sapiens_hsa049190.59874918
123Gap junction_Homo sapiens_hsa045400.59440357
124Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.59425891
125Retinol metabolism_Homo sapiens_hsa008300.55849937
126Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.55718153
127Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.55324037
128Steroid hormone biosynthesis_Homo sapiens_hsa001400.55180663
129MAPK signaling pathway_Homo sapiens_hsa040100.54600840
130Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.54585987
131Fatty acid elongation_Homo sapiens_hsa000620.54570973
132Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.54267595
133Sulfur relay system_Homo sapiens_hsa041220.53758404
134DNA replication_Homo sapiens_hsa030300.53666375
135Pancreatic cancer_Homo sapiens_hsa052120.52437059
136Sulfur metabolism_Homo sapiens_hsa009200.52164252
137Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.50819183
138Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.50560941
139Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.50490815
140mTOR signaling pathway_Homo sapiens_hsa041500.49634299
141Platelet activation_Homo sapiens_hsa046110.49564522
142Glycerolipid metabolism_Homo sapiens_hsa005610.48932452
143Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.48607845
144FoxO signaling pathway_Homo sapiens_hsa040680.48328463
145Vibrio cholerae infection_Homo sapiens_hsa051100.48036665
146Arachidonic acid metabolism_Homo sapiens_hsa005900.47703093
147Central carbon metabolism in cancer_Homo sapiens_hsa052300.46476409
148Fat digestion and absorption_Homo sapiens_hsa049750.46024594
149Mineral absorption_Homo sapiens_hsa049780.44905333
150Mismatch repair_Homo sapiens_hsa034300.44857475
151Non-homologous end-joining_Homo sapiens_hsa034500.44381288
152Long-term potentiation_Homo sapiens_hsa047200.44056617
153Glucagon signaling pathway_Homo sapiens_hsa049220.43675450
154Malaria_Homo sapiens_hsa051440.43068732
155Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.42202062
156Bile secretion_Homo sapiens_hsa049760.41755706
157Hepatitis B_Homo sapiens_hsa051610.41301714
158Longevity regulating pathway - mammal_Homo sapiens_hsa042110.41135010
159beta-Alanine metabolism_Homo sapiens_hsa004100.40493822
160Nitrogen metabolism_Homo sapiens_hsa009100.40389369
161Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.39893717
162Long-term depression_Homo sapiens_hsa047300.39360599
163p53 signaling pathway_Homo sapiens_hsa041150.39283064
164Starch and sucrose metabolism_Homo sapiens_hsa005000.38745722
165Proteasome_Homo sapiens_hsa030500.37872843
166Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.37743226
167Ribosome_Homo sapiens_hsa030100.34125678
168Neurotrophin signaling pathway_Homo sapiens_hsa047220.33469801
169Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.32983348
170Viral carcinogenesis_Homo sapiens_hsa052030.31629859
171Renin-angiotensin system_Homo sapiens_hsa046140.31176463
172Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.30594505
173Ras signaling pathway_Homo sapiens_hsa040140.29969530
174One carbon pool by folate_Homo sapiens_hsa006700.26918593
175Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.26239709

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