SIM2

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 represents a homolog of the Drosophila single-minded (sim) gene, which encodes a transcription factor that is a master regulator of neurogenesis. The encoded protein is ubiquitinated by RING-IBR-RING-type E3 ubiquitin ligases, including the parkin RBR E3 ubiquitin protein ligase. This gene maps within the so-called Down syndrome chromosomal region, and is thus thought to contribute to some specific Down syndrome phenotypes. Alternative splicing of this gene results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1plasma membrane repair (GO:0001778)6.23379112
2chondrocyte proliferation (GO:0035988)5.25871433
3actin-myosin filament sliding (GO:0033275)4.99488525
4muscle filament sliding (GO:0030049)4.99488525
5branching involved in prostate gland morphogenesis (GO:0060442)4.98441039
6bone trabecula formation (GO:0060346)4.73331081
7G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071994.62583559
8artery development (GO:0060840)4.61392288
9metanephric mesenchyme development (GO:0072075)4.54088067
10collagen fibril organization (GO:0030199)4.40823278
11kidney mesenchyme development (GO:0072074)4.32110537
12middle ear morphogenesis (GO:0042474)4.31468862
13planar cell polarity pathway involved in neural tube closure (GO:0090179)4.30143503
14behavioral response to nicotine (GO:0035095)4.25704636
15actin-mediated cell contraction (GO:0070252)4.24273304
16embryonic cranial skeleton morphogenesis (GO:0048701)4.15122284
17sequestering of extracellular ligand from receptor (GO:0035581)4.08449680
18regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)4.07591122
19muscle cell fate commitment (GO:0042693)4.03239475
20prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060523.99283092
21hippo signaling (GO:0035329)3.99271294
22skeletal muscle fiber development (GO:0048741)3.89743366
23skeletal muscle contraction (GO:0003009)3.87173916
24axon extension involved in axon guidance (GO:0048846)3.83811543
25neuron projection extension involved in neuron projection guidance (GO:1902284)3.83811543
26paraxial mesoderm development (GO:0048339)3.79854839
27lung epithelium development (GO:0060428)3.79072239
28biotin metabolic process (GO:0006768)3.76705519
29positive regulation of smoothened signaling pathway (GO:0045880)3.71463222
30cell proliferation involved in metanephros development (GO:0072203)3.69979907
31protein heterotrimerization (GO:0070208)3.66155413
32pharyngeal system development (GO:0060037)3.64460518
33piRNA metabolic process (GO:0034587)3.62793458
34response to pheromone (GO:0019236)3.62746133
35notochord development (GO:0030903)3.62685805
36collecting duct development (GO:0072044)3.59142375
37cochlea morphogenesis (GO:0090103)3.58603626
38actin filament-based movement (GO:0030048)3.58432773
39regulation of skeletal muscle contraction (GO:0014819)3.57043209
40epoxygenase P450 pathway (GO:0019373)3.50170529
41somite development (GO:0061053)3.49098586
42epithelial cell maturation (GO:0002070)3.46485917
43metanephric nephron tubule development (GO:0072234)3.45190667
44metanephric tubule development (GO:0072170)3.45190667
45mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)3.43683499
46dorsal/ventral neural tube patterning (GO:0021904)3.39705997
47myoblast fusion (GO:0007520)3.38771822
48positive regulation of mesenchymal cell proliferation (GO:0002053)3.38671053
49negative regulation of chondrocyte differentiation (GO:0032331)3.38418337
50negative regulation of fatty acid transport (GO:2000192)3.37679919
51glomerular filtration (GO:0003094)3.22311086
52neuron fate specification (GO:0048665)3.22219077
53regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)3.18729646
54myotube cell development (GO:0014904)3.13982191
55positive regulation of catenin import into nucleus (GO:0035413)3.13792017
56Wnt signaling pathway, planar cell polarity pathway (GO:0060071)3.10599628
57sarcoplasmic reticulum calcium ion transport (GO:0070296)3.09291880
58outer ear morphogenesis (GO:0042473)3.09272441
59insulin-like growth factor receptor signaling pathway (GO:0048009)3.08850661
60metanephric nephron epithelium development (GO:0072243)3.08388021
61syncytium formation by plasma membrane fusion (GO:0000768)3.08268517
62body morphogenesis (GO:0010171)3.07148190
63prostate gland epithelium morphogenesis (GO:0060740)3.03795478
64skin morphogenesis (GO:0043589)3.03716997
65regulation of establishment of planar polarity (GO:0090175)3.02069652
66detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.01980006
67negative regulation of cell size (GO:0045792)3.01113315
68syncytium formation (GO:0006949)3.00683937
69regulation of mesenchymal cell apoptotic process (GO:2001053)2.99927100
70myotube differentiation (GO:0014902)2.98891544
71regulation of mesenchymal cell proliferation (GO:0010464)2.98321973
72regulation of heart morphogenesis (GO:2000826)2.97813844
73endodermal cell differentiation (GO:0035987)2.96300531
74regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.94775126
75renal filtration (GO:0097205)2.94124047
76DNA methylation involved in gamete generation (GO:0043046)2.93467484
77kynurenine metabolic process (GO:0070189)2.93444045
78regulation of hippo signaling (GO:0035330)2.93180813
79regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)2.92963515
80epithelial cell-cell adhesion (GO:0090136)2.90813672
81mitotic cell cycle arrest (GO:0071850)2.90382259
82regulation of catenin import into nucleus (GO:0035412)2.86874960
83positive regulation of oligodendrocyte differentiation (GO:0048714)2.86332544
84convergent extension (GO:0060026)2.86316312
85camera-type eye morphogenesis (GO:0048593)2.86237952
86positive regulation of extracellular matrix organization (GO:1903055)2.85667518
87negative regulation of catenin import into nucleus (GO:0035414)2.85561407
88negative regulation of axon guidance (GO:1902668)2.83786203
89positive regulation of gastrulation (GO:2000543)2.82404730
90chondrocyte development (GO:0002063)2.81795164
91lung lobe morphogenesis (GO:0060463)2.80609263
92embryonic viscerocranium morphogenesis (GO:0048703)2.80109323
93positive regulation of steroid hormone secretion (GO:2000833)2.79860973
94cranial nerve morphogenesis (GO:0021602)2.78696641
95polarized epithelial cell differentiation (GO:0030859)2.78273542
96negative regulation of cartilage development (GO:0061037)2.77710002
97mesenchymal-epithelial cell signaling (GO:0060638)2.77306609
98adenosine metabolic process (GO:0046085)2.76778307
99regulation of glucokinase activity (GO:0033131)2.75169776
100regulation of hexokinase activity (GO:1903299)2.75169776
101non-canonical Wnt signaling pathway (GO:0035567)2.74798447
102regulation of action potential (GO:0098900)2.74451798
103organ induction (GO:0001759)2.72935195
104endocardial cushion development (GO:0003197)2.72808945
105mesenchyme development (GO:0060485)2.71401651
106myoblast migration (GO:0051451)2.68706889
107hindlimb morphogenesis (GO:0035137)2.67338942
108metanephric epithelium development (GO:0072207)2.67322801
109embryonic skeletal system morphogenesis (GO:0048704)2.67318935
110negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)2.67314659
111retinal ganglion cell axon guidance (GO:0031290)2.65810613
112cell migration involved in heart development (GO:0060973)2.65335058
113head development (GO:0060322)2.64374807
114embryonic skeletal system development (GO:0048706)2.63991965
115cartilage development involved in endochondral bone morphogenesis (GO:0060351)2.61973282
116bone morphogenesis (GO:0060349)2.61658211
117skeletal muscle tissue regeneration (GO:0043403)2.61562586
118nonmotile primary cilium assembly (GO:0035058)2.61029571
119embryonic hindlimb morphogenesis (GO:0035116)2.59039213
120negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)2.58792395
121myofibril assembly (GO:0030239)2.58480097
122L-fucose metabolic process (GO:0042354)2.58158397
123L-fucose catabolic process (GO:0042355)2.58158397
124fucose catabolic process (GO:0019317)2.58158397
125nephron tubule development (GO:0072080)2.57501762
126embryonic body morphogenesis (GO:0010172)2.55967904
127positive regulation of myotube differentiation (GO:0010831)2.55898123
128muscle cell migration (GO:0014812)2.55501336
129negative regulation of mesenchymal cell apoptotic process (GO:2001054)2.55442682
130cellular ketone body metabolic process (GO:0046950)2.54625984
131dopaminergic neuron differentiation (GO:0071542)2.54040853
132positive regulation of epithelial to mesenchymal transition (GO:0010718)2.53228169
133craniofacial suture morphogenesis (GO:0097094)2.52473444
134epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.49098947
135multicellular organismal movement (GO:0050879)2.48774152
136musculoskeletal movement (GO:0050881)2.48774152
137regulation of receptor binding (GO:1900120)2.48415775
138mitochondrial respiratory chain complex I assembly (GO:0032981)2.48322133
139NADH dehydrogenase complex assembly (GO:0010257)2.48322133
140mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.48322133
141negative regulation of axon extension involved in axon guidance (GO:0048843)2.44602033
142response to testosterone (GO:0033574)2.43842597
143regulation of mesoderm development (GO:2000380)2.43634679
144indole-containing compound catabolic process (GO:0042436)2.43314977
145indolalkylamine catabolic process (GO:0046218)2.43314977
146tryptophan catabolic process (GO:0006569)2.43314977
147preassembly of GPI anchor in ER membrane (GO:0016254)2.42499505
148protein complex biogenesis (GO:0070271)2.42377881
149protein polyglutamylation (GO:0018095)2.41876969
150negative regulation of systemic arterial blood pressure (GO:0003085)2.41710143
151intestinal epithelial cell development (GO:0060576)2.41508269
152rRNA catabolic process (GO:0016075)2.41176786
153cornea development in camera-type eye (GO:0061303)2.39881798
154cell proliferation in forebrain (GO:0021846)2.37680867
155negative regulation of smooth muscle cell differentiation (GO:0051151)2.36084373
156nephron epithelium morphogenesis (GO:0072088)2.36012990
157nephron tubule morphogenesis (GO:0072078)2.36012990
158endothelial cell chemotaxis (GO:0035767)2.35086448
159cilium organization (GO:0044782)2.33919715
160G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.33390968
161cilium assembly (GO:0042384)2.31062036
162ketone body metabolic process (GO:1902224)2.28876816
163urogenital system development (GO:0001655)2.28633065
164positive regulation of transcription from RNA polymerase III promoter (GO:0045945)2.28610805
165positive regulation of embryonic development (GO:0040019)2.28251644
166mitochondrial respiratory chain complex assembly (GO:0033108)2.27560316
167protein K6-linked ubiquitination (GO:0085020)2.27524294
168negative regulation of multicellular organism growth (GO:0040015)2.27131344
169regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)2.26216545
170cardiovascular system development (GO:0072358)2.25569868
171lung secretory cell differentiation (GO:0061140)2.25309673
172auditory receptor cell stereocilium organization (GO:0060088)2.24792080
173spinal cord motor neuron differentiation (GO:0021522)2.24351289
174metanephros development (GO:0001656)2.24312672
175cilium morphogenesis (GO:0060271)2.23912875
176inner ear receptor stereocilium organization (GO:0060122)2.23443798
177fatty acid transmembrane transport (GO:1902001)2.23070871
178positive regulation of fatty acid oxidation (GO:0046321)2.22939327
179peptidyl-histidine modification (GO:0018202)2.22766089
180negative regulation of cytosolic calcium ion concentration (GO:0051481)2.22189156
181thalamus development (GO:0021794)2.21665917
182limb bud formation (GO:0060174)2.21110792
183replication fork processing (GO:0031297)2.19703126
184reflex (GO:0060004)2.19692026
185regulation of cilium movement (GO:0003352)2.19579536
186negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.19324237
187negative regulation of translation, ncRNA-mediated (GO:0040033)2.19324237
188regulation of translation, ncRNA-mediated (GO:0045974)2.19324237
189lung epithelial cell differentiation (GO:0060487)2.16816084
190water-soluble vitamin biosynthetic process (GO:0042364)2.16092022
191indolalkylamine metabolic process (GO:0006586)2.15087791
192protein K11-linked deubiquitination (GO:0035871)2.14845812
193positive regulation of sodium ion transmembrane transporter activity (GO:2000651)2.14054362
194regulation of sarcomere organization (GO:0060297)2.13806050
195intraciliary transport (GO:0042073)2.13515065
196behavioral response to ethanol (GO:0048149)2.13142129
197smoothened signaling pathway (GO:0007224)2.12863478

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human4.09313966
2FOXM1_23109430_ChIP-Seq_U2OS_Human3.65132477
3ZNF274_21170338_ChIP-Seq_K562_Hela3.47236209
4RARG_19884340_ChIP-ChIP_MEFs_Mouse3.22579424
5* PIAS1_25552417_ChIP-Seq_VCAP_Human3.13194745
6EZH2_22144423_ChIP-Seq_EOC_Human3.10858726
7TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.76831444
8VDR_22108803_ChIP-Seq_LS180_Human2.73965549
9WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.73597700
10BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.72423122
11HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse2.68429830
12EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.55539741
13WT1_19549856_ChIP-ChIP_CCG9911_Human2.54873101
14RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.52995833
15TP63_19390658_ChIP-ChIP_HaCaT_Human2.51565638
16STAT6_21828071_ChIP-Seq_BEAS2B_Human2.47067143
17* TP53_20018659_ChIP-ChIP_R1E_Mouse2.45505703
18GBX2_23144817_ChIP-Seq_PC3_Human2.36844453
19TP63_17297297_ChIP-ChIP_HaCaT_Human2.27556364
20NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.19533422
21ZFP281_18358816_ChIP-ChIP_MESCs_Mouse2.16243273
22AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.15697731
23FUS_26573619_Chip-Seq_HEK293_Human2.12999226
24NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.12649260
25TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.11410628
26ZFP57_27257070_Chip-Seq_ESCs_Mouse2.05670136
27HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.04167663
28AR_21572438_ChIP-Seq_LNCaP_Human2.02642238
29ZFP281_18757296_ChIP-ChIP_E14_Mouse2.00815763
30IGF1R_20145208_ChIP-Seq_DFB_Human2.00811757
31CLOCK_20551151_ChIP-Seq_293T_Human1.98388339
32AR_21909140_ChIP-Seq_LNCAP_Human1.98157149
33GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.97111118
34* BMI1_23680149_ChIP-Seq_NPCS_Mouse1.96791167
35HIF1A_21447827_ChIP-Seq_MCF-7_Human1.93296918
36* RNF2_18974828_ChIP-Seq_MESCs_Mouse1.90336093
37* EZH2_18974828_ChIP-Seq_MESCs_Mouse1.90336093
38CTBP2_25329375_ChIP-Seq_LNCAP_Human1.87024851
39ER_23166858_ChIP-Seq_MCF-7_Human1.86820294
40EWS_26573619_Chip-Seq_HEK293_Human1.86627426
41POU3F2_20337985_ChIP-ChIP_501MEL_Human1.86324990
42ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.84351471
43PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.83965580
44BRD4_25478319_ChIP-Seq_HGPS_Human1.81985964
45TAF15_26573619_Chip-Seq_HEK293_Human1.81536641
46TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.81075652
47TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.79628431
48P300_27058665_Chip-Seq_ZR-75-30cells_Human1.76326360
49* AR_25329375_ChIP-Seq_VCAP_Human1.73532831
50ZFP281_27345836_Chip-Seq_ESCs_Mouse1.72498008
51* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.72364887
52CJUN_26792858_Chip-Seq_BT549_Human1.68406811
53HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.67878151
54GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.66847673
55ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.64930591
56NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.64441273
57ESR1_20079471_ChIP-ChIP_T-47D_Human1.64352639
58SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.63361344
59PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.62528019
60BP1_19119308_ChIP-ChIP_Hs578T_Human1.62079550
61* P300_19829295_ChIP-Seq_ESCs_Human1.60978286
62* RNF2_27304074_Chip-Seq_NSC_Mouse1.58823807
63ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.57154776
64EP300_21415370_ChIP-Seq_HL-1_Mouse1.56000621
65ELK3_25401928_ChIP-Seq_HUVEC_Human1.55042851
66EED_16625203_ChIP-ChIP_MESCs_Mouse1.54335913
67NR3C1_21868756_ChIP-Seq_MCF10A_Human1.54241426
68KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.52362619
69KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.52362619
70KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.52362619
71ESR1_21235772_ChIP-Seq_MCF-7_Human1.52352740
72ESR2_21235772_ChIP-Seq_MCF-7_Human1.52111577
73* DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.52102214
74RBPJ_22232070_ChIP-Seq_NCS_Mouse1.51879707
75* EZH2_27304074_Chip-Seq_ESCs_Mouse1.51566758
76FLI1_27457419_Chip-Seq_LIVER_Mouse1.51092199
77CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.50194048
78ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.49594209
79SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.47452879
80MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.44581861
81CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.43845803
82MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.43577752
83* JARID2_20064375_ChIP-Seq_MESCs_Mouse1.43472283
84AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.42232968
85FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.41941917
86SMAD4_21799915_ChIP-Seq_A2780_Human1.41632960
87TBX20_22328084_ChIP-Seq_HEART_Mouse1.39801134
88TBX20_22080862_ChIP-Seq_HEART_Mouse1.39801134
89STAT3_23295773_ChIP-Seq_U87_Human1.38929822
90ISL1_27105846_Chip-Seq_CPCs_Mouse1.38402044
91ESR1_15608294_ChIP-ChIP_MCF-7_Human1.37588299
92TP53_18474530_ChIP-ChIP_U2OS_Human1.37525640
93TP53_22573176_ChIP-Seq_HFKS_Human1.36421984
94TP53_22127205_ChIP-Seq_IMR90_Human1.36309530
95CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.35996712
96SALL1_21062744_ChIP-ChIP_HESCs_Human1.35738416
97* FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human1.35696374
98CDX2_19796622_ChIP-Seq_MESCs_Mouse1.35449299
99EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.35350808
100SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.34931921
101* RING1B_27294783_Chip-Seq_NPCs_Mouse1.34191351
102MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.33117627
103PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.31664448
104AHR_22903824_ChIP-Seq_MCF-7_Human1.31342258
105AR_20517297_ChIP-Seq_VCAP_Human1.30330448
106EGR1_19374776_ChIP-ChIP_THP-1_Human1.30076298
107SMC1_22415368_ChIP-Seq_MEFs_Mouse1.29612119
108CBP_20019798_ChIP-Seq_JUKART_Human1.29429452
109IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.29429452
110NOTCH1_21737748_ChIP-Seq_TLL_Human1.29141766
111POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.28374240
112TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.28374240
113* CBX2_27304074_Chip-Seq_ESCs_Mouse1.28299038
114ARNT_22903824_ChIP-Seq_MCF-7_Human1.26600532
115* SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.25720197
116FOXA1_25552417_ChIP-Seq_VCAP_Human1.25672463
117KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.25472556
118TCF4_23295773_ChIP-Seq_U87_Human1.25166374
119PCGF2_27294783_Chip-Seq_ESCs_Mouse1.25103782
120TCF3_18692474_ChIP-Seq_MEFs_Mouse1.25095415
121ATF3_27146783_Chip-Seq_COLON_Human1.24579564
122CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.24543815
123KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.24073878
124* JARID2_20075857_ChIP-Seq_MESCs_Mouse1.23042049
125SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.22979323
126KDM2B_26808549_Chip-Seq_SUP-B15_Human1.22698721
127GABP_17652178_ChIP-ChIP_JURKAT_Human1.21956181
128* KDM2B_26808549_Chip-Seq_K562_Human1.21209339
129RUNX2_22187159_ChIP-Seq_PCA_Human1.21046094
130MYC_18940864_ChIP-ChIP_HL60_Human1.20357414
131RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.19752851
132RACK7_27058665_Chip-Seq_MCF-7_Human1.19659584
133ZNF217_24962896_ChIP-Seq_MCF-7_Human1.19296120
134TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.18094066
135PPAR_26484153_Chip-Seq_NCI-H1993_Human1.17974766
136UBF1/2_26484160_Chip-Seq_HMECs_Human1.17797773
137FOXM1_26456572_ChIP-Seq_MCF-7_Human1.16580782
138UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.16355656
139NFIB_24661679_ChIP-Seq_LUNG_Mouse1.16154005
140* SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.15596642
141IRF1_19129219_ChIP-ChIP_H3396_Human1.15080585
142* EZH2_27294783_Chip-Seq_ESCs_Mouse1.14931397
143SMAD3_21741376_ChIP-Seq_EPCs_Human1.14042859
144NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.13636832
145TOP2B_26459242_ChIP-Seq_MCF-7_Human1.13482405
146FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.13009269
147RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.12365085
148* NANOG_16153702_ChIP-ChIP_HESCs_Human1.11608974
149ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.11160031
150TCF4_22108803_ChIP-Seq_LS180_Human1.10809068
151CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.10500911
152UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.10408232
153* SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.09867688
154E2F7_22180533_ChIP-Seq_HELA_Human1.08390162
155* RNF2_27304074_Chip-Seq_ESCs_Mouse1.07151130
156SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.06884472
157MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.05868037
158* NRF2_20460467_ChIP-Seq_MEFs_Mouse1.04988992
159* NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.04988992
160FOXO3_23340844_ChIP-Seq_DLD1_Human1.04940316
161TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.04928490
162KLF5_20875108_ChIP-Seq_MESCs_Mouse1.04848890
163TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.04828041
164* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.04229198
165SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.02861947
166TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.02206022
167REST_21632747_ChIP-Seq_MESCs_Mouse1.01348163
168HOXB7_26014856_ChIP-Seq_BT474_Human1.01240364
169PCGF2_27294783_Chip-Seq_NPCs_Mouse1.00992499
170EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.00301057
171FLI1_21867929_ChIP-Seq_TH2_Mouse0.99139322
172ERG_20517297_ChIP-Seq_VCAP_Human0.98588959
173LXR_22292898_ChIP-Seq_THP-1_Human0.97189967
174* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.97115213
175TP53_23651856_ChIP-Seq_MEFs_Mouse0.97035310
176FOXA1_27270436_Chip-Seq_PROSTATE_Human0.96731059
177FOXA1_25329375_ChIP-Seq_VCAP_Human0.96731059
178BCAT_22108803_ChIP-Seq_LS180_Human0.95054254
179OCT1_27270436_Chip-Seq_PROSTATE_Human0.94577414
180KDM5A_27292631_Chip-Seq_BREAST_Human0.92144048
181ELK1_19687146_ChIP-ChIP_HELA_Human0.91525009
182SMAD4_21741376_ChIP-Seq_EPCs_Human0.91244593

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen4.26567115
2MP0010030_abnormal_orbit_morphology4.06894674
3MP0004145_abnormal_muscle_electrophysio3.25731580
4MP0005503_abnormal_tendon_morphology3.23919885
5MP0003283_abnormal_digestive_organ3.07026537
6MP0003705_abnormal_hypodermis_morpholog3.04424127
7MP0000733_abnormal_muscle_development2.88382187
8MP0000749_muscle_degeneration2.67348593
9MP0000751_myopathy2.57780037
10MP0005275_abnormal_skin_tensile2.51592533
11MP0005623_abnormal_meninges_morphology2.42303510
12MP0003315_abnormal_perineum_morphology2.30217393
13MP0002009_preneoplasia2.28271496
14MP0000049_abnormal_middle_ear2.22438982
15MP0009250_abnormal_appendicular_skeleto2.20017149
16MP0005645_abnormal_hypothalamus_physiol2.19850315
17MP0002249_abnormal_larynx_morphology2.16353599
18MP0002102_abnormal_ear_morphology2.12205298
19MP0006292_abnormal_olfactory_placode2.09177730
20MP0002108_abnormal_muscle_morphology2.08251435
21MP0003385_abnormal_body_wall2.04741856
22MP0000759_abnormal_skeletal_muscle2.01917280
23MP0000750_abnormal_muscle_regeneration2.00346215
24MP0001299_abnormal_eye_distance/1.94262548
25MP0000516_abnormal_urinary_system1.93570534
26MP0005367_renal/urinary_system_phenotyp1.93570534
27MP0001958_emphysema1.87768669
28MP0000747_muscle_weakness1.86839626
29MP0001968_abnormal_touch/_nociception1.86072385
30MP0002736_abnormal_nociception_after1.85246168
31MP0002932_abnormal_joint_morphology1.84124447
32MP0004233_abnormal_muscle_weight1.83202145
33* MP0000762_abnormal_tongue_morphology1.82475291
34MP0000538_abnormal_urinary_bladder1.82224625
35MP0003937_abnormal_limbs/digits/tail_de1.81619811
36MP0005508_abnormal_skeleton_morphology1.80335723
37MP0009053_abnormal_anal_canal1.78704133
38MP0004087_abnormal_muscle_fiber1.77471147
39* MP0003755_abnormal_palate_morphology1.77363701
40MP0003122_maternal_imprinting1.73561549
41MP0005646_abnormal_pituitary_gland1.71666681
42MP0000534_abnormal_ureter_morphology1.71432358
43MP0005369_muscle_phenotype1.66140807
44MP0005257_abnormal_intraocular_pressure1.63836555
45MP0002106_abnormal_muscle_physiology1.63577423
46MP0005551_abnormal_eye_electrophysiolog1.62456976
47MP0002735_abnormal_chemical_nociception1.62437458
48MP0009384_cardiac_valve_regurgitation1.60907855
49MP0000428_abnormal_craniofacial_morphol1.59249612
50MP0003942_abnormal_urinary_system1.59101387
51MP0004043_abnormal_pH_regulation1.57794285
52MP0000631_abnormal_neuroendocrine_gland1.57624375
53MP0003279_aneurysm1.56765380
54MP0002282_abnormal_trachea_morphology1.56557128
55MP0002160_abnormal_reproductive_system1.48913070
56MP0000566_synostosis1.48841837
57MP0002822_catalepsy1.48436102
58MP0005310_abnormal_salivary_gland1.46459479
59MP0002233_abnormal_nose_morphology1.44991769
60MP0005187_abnormal_penis_morphology1.39901530
61MP0002876_abnormal_thyroid_physiology1.39544952
62MP0004134_abnormal_chest_morphology1.39057975
63MP0000163_abnormal_cartilage_morphology1.37263670
64MP0002166_altered_tumor_susceptibility1.36019392
65MP0002896_abnormal_bone_mineralization1.34702785
66MP0002269_muscular_atrophy1.34506926
67MP0003091_abnormal_cell_migration1.32409553
68MP0010352_gastrointestinal_tract_polyps1.31124577
69MP0002653_abnormal_ependyma_morphology1.28826487
70MP0004272_abnormal_basement_membrane1.27838054
71MP0003123_paternal_imprinting1.26597368
72MP0010386_abnormal_urinary_bladder1.26234716
73* MP0003935_abnormal_craniofacial_develop1.25426261
74* MP0002116_abnormal_craniofacial_bone1.25042300
75MP0002006_tumorigenesis1.24591213
76MP0001501_abnormal_sleep_pattern1.21371490
77MP0000613_abnormal_salivary_gland1.19692402
78MP0000383_abnormal_hair_follicle1.18929053
79* MP0002234_abnormal_pharynx_morphology1.18563509
80MP0000678_abnormal_parathyroid_gland1.16696485
81MP0002114_abnormal_axial_skeleton1.16413668
82MP0006276_abnormal_autonomic_nervous1.16171157
83MP0002557_abnormal_social/conspecific_i1.15743255
84* MP0000432_abnormal_head_morphology1.15187716
85MP0002184_abnormal_innervation1.14627148
86MP0005670_abnormal_white_adipose1.13475337
87MP0001270_distended_abdomen1.13234867
88MP0005076_abnormal_cell_differentiation1.11984557
89MP0001485_abnormal_pinna_reflex1.11766075
90MP0003566_abnormal_cell_adhesion1.09091266
91MP0003011_delayed_dark_adaptation1.09063723
92MP0002109_abnormal_limb_morphology1.09003893
93MP0003121_genomic_imprinting1.05872679
94MP0001849_ear_inflammation1.05180030
95MP0003115_abnormal_respiratory_system1.04430146
96MP0001486_abnormal_startle_reflex1.04075093
97MP0002115_abnormal_skeleton_extremities1.04029370
98MP0002089_abnormal_postnatal_growth/wei1.02779379
99MP0002113_abnormal_skeleton_development1.02743211
100MP0000427_abnormal_hair_cycle1.02559723
101MP0000778_abnormal_nervous_system1.02305062
102MP0003938_abnormal_ear_development1.02151441
103MP0004036_abnormal_muscle_relaxation1.01742626
104MP0000026_abnormal_inner_ear1.00959901
105MP0001873_stomach_inflammation1.00600869
106MP0004142_abnormal_muscle_tone1.00503557
107MP0009780_abnormal_chondrocyte_physiolo0.99734937
108MP0002092_abnormal_eye_morphology0.99605040
109MP0003646_muscle_fatigue0.99420102
110MP0001293_anophthalmia0.99264668
111MP0001346_abnormal_lacrimal_gland0.98785581
112MP0005620_abnormal_muscle_contractility0.98372705
113MP0000767_abnormal_smooth_muscle0.96097940
114MP0002733_abnormal_thermal_nociception0.95971609
115MP0001243_abnormal_dermal_layer0.94784210
116MP0004197_abnormal_fetal_growth/weight/0.94103985
117MP0001756_abnormal_urination0.94002387
118MP0002272_abnormal_nervous_system0.93795130
119MP0005253_abnormal_eye_physiology0.93335010
120MP0003880_abnormal_central_pattern0.91474351
121MP0008961_abnormal_basal_metabolism0.90950921
122MP0000569_abnormal_digit_pigmentation0.90540292
123MP0002837_dystrophic_cardiac_calcinosis0.89009744
124MP0000467_abnormal_esophagus_morphology0.88445539
125MP0009745_abnormal_behavioral_response0.88313485
126MP0002909_abnormal_adrenal_gland0.87677305
127MP0002752_abnormal_somatic_nervous0.87424586
128MP0008877_abnormal_DNA_methylation0.86808656
129MP0005023_abnormal_wound_healing0.86720174
130MP0001286_abnormal_eye_development0.85645510
131MP0000537_abnormal_urethra_morphology0.85510319
132MP0008789_abnormal_olfactory_epithelium0.85234565
133MP0002168_other_aberrant_phenotype0.84705391
134MP0002111_abnormal_tail_morphology0.84187162
135MP0006072_abnormal_retinal_apoptosis0.84018540
136MP0000955_abnormal_spinal_cord0.83368147
137MP0010630_abnormal_cardiac_muscle0.83313452
138MP0002085_abnormal_embryonic_tissue0.83250404
139MP0002928_abnormal_bile_duct0.82891023
140MP0002638_abnormal_pupillary_reflex0.82423116
141MP0006054_spinal_hemorrhage0.81594897
142MP0002084_abnormal_developmental_patter0.80925169
143MP0002177_abnormal_outer_ear0.80367850
144MP0001664_abnormal_digestion0.80167301
145MP0001944_abnormal_pancreas_morphology0.79224848
146MP0003787_abnormal_imprinting0.78486398
147MP0003698_abnormal_male_reproductive0.77419071
148MP0000230_abnormal_systemic_arterial0.77398678
149MP0001970_abnormal_pain_threshold0.77356521
150MP0004133_heterotaxia0.76877275
151MP0002925_abnormal_cardiovascular_devel0.76449882
152MP0001348_abnormal_lacrimal_gland0.76356570
153MP0001919_abnormal_reproductive_system0.76072547
154MP0000013_abnormal_adipose_tissue0.75901714
155MP0001340_abnormal_eyelid_morphology0.75538444
156MP0008872_abnormal_physiological_respon0.75530814
157MP0004742_abnormal_vestibular_system0.75346235
158MP0005647_abnormal_sex_gland0.74658169
159MP0004085_abnormal_heartbeat0.74108329
160MP0005248_abnormal_Harderian_gland0.72553565
161MP0002210_abnormal_sex_determination0.71984290
162MP0003861_abnormal_nervous_system0.71738609
163MP0005389_reproductive_system_phenotype0.71653209
164MP0002697_abnormal_eye_size0.71593444
165MP0002734_abnormal_mechanical_nocicepti0.71481230
166MP0002060_abnormal_skin_morphology0.70927875
167MP0002938_white_spotting0.70359256
168MP0003195_calcinosis0.69188604
169MP0000003_abnormal_adipose_tissue0.68701083
170MP0005197_abnormal_uvea_morphology0.68641279

Predicted human phenotypes

RankGene SetZ-score
1Muscle fiber inclusion bodies (HP:0100299)6.33577536
2Type 1 muscle fiber predominance (HP:0003803)6.19533340
3Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)6.08068446
4Nemaline bodies (HP:0003798)5.32804913
5Protrusio acetabuli (HP:0003179)5.04927184
6Distal arthrogryposis (HP:0005684)4.19109970
7Round ear (HP:0100830)4.17004930
8Increased connective tissue (HP:0009025)4.10821064
9Premature rupture of membranes (HP:0001788)4.10587789
10Calcaneovalgus deformity (HP:0001848)3.74041180
11Neonatal short-limb short stature (HP:0008921)3.59455021
12Pancreatic cysts (HP:0001737)3.57145084
13Muscle fiber splitting (HP:0003555)3.55957267
14Hyperventilation (HP:0002883)3.51027242
15Deformed tarsal bones (HP:0008119)3.44103306
16Ulnar deviation of the wrist (HP:0003049)3.40762674
17Molar tooth sign on MRI (HP:0002419)3.37545990
18Abnormality of midbrain morphology (HP:0002418)3.37545990
19Absent phalangeal crease (HP:0006109)3.35215154
20Difficulty running (HP:0009046)3.30487606
21Pancreatic fibrosis (HP:0100732)3.28103727
22Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)3.19736252
23Short 1st metacarpal (HP:0010034)3.19736252
24Abnormality of skeletal muscle fiber size (HP:0012084)3.19391492
25Myopathic facies (HP:0002058)3.19013538
26Mildly elevated creatine phosphokinase (HP:0008180)3.18613465
27Type II lissencephaly (HP:0007260)3.15902485
28Increased variability in muscle fiber diameter (HP:0003557)3.15731814
29Nephronophthisis (HP:0000090)3.13372819
30Ankle contracture (HP:0006466)3.06212837
31Hip contracture (HP:0003273)3.04694345
32Difficulty climbing stairs (HP:0003551)3.03546607
33Abnormality of the 1st metacarpal (HP:0010009)3.03009951
34Slender build (HP:0001533)2.99749228
35Shallow orbits (HP:0000586)2.99232564
36Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.99159293
37Short 4th metacarpal (HP:0010044)2.99159293
38True hermaphroditism (HP:0010459)2.97168992
39Mesomelia (HP:0003027)2.94764012
40Metabolic alkalosis (HP:0200114)2.91333410
41Spinal rigidity (HP:0003306)2.86844016
42Wrist flexion contracture (HP:0001239)2.86665738
43Abnormality of the calcaneus (HP:0008364)2.84743890
44Abnormality of the calf musculature (HP:0001430)2.84450951
45Aortic dissection (HP:0002647)2.81052407
46Exercise-induced myalgia (HP:0003738)2.79637574
47Abnormality of the renal medulla (HP:0100957)2.74632463
48Exercise-induced muscle cramps (HP:0003710)2.73207842
49Abnormal finger flexion creases (HP:0006143)2.72322708
50Malignant hyperthermia (HP:0002047)2.72196987
51Abnormality of the renal cortex (HP:0011035)2.64959222
52Medial flaring of the eyebrow (HP:0010747)2.60591584
53Hyporeflexia of lower limbs (HP:0002600)2.60481433
54Testicular atrophy (HP:0000029)2.57794367
55Limited hip movement (HP:0008800)2.56358129
56Mitral valve prolapse (HP:0001634)2.55333728
57Hypokalemic alkalosis (HP:0001949)2.54250469
58Polydipsia (HP:0001959)2.50671189
59Abnormal drinking behavior (HP:0030082)2.50671189
60Abnormality of chloride homeostasis (HP:0011422)2.47452538
61Congenital stationary night blindness (HP:0007642)2.46966333
62Tubular atrophy (HP:0000092)2.46143786
63Short phalanx of the thumb (HP:0009660)2.45605926
64Large for gestational age (HP:0001520)2.45584583
65Muscle hypertrophy of the lower extremities (HP:0008968)2.41723515
66EMG: myopathic abnormalities (HP:0003458)2.40504237
67Cerebral aneurysm (HP:0004944)2.38755712
68Abnormality of the phalanges of the hallux (HP:0010057)2.37439293
69Gaze-evoked nystagmus (HP:0000640)2.36952441
70Cerebellar dysplasia (HP:0007033)2.35870168
71Aortic aneurysm (HP:0004942)2.35637910
72Peritonitis (HP:0002586)2.35191130
73Chronic hepatic failure (HP:0100626)2.35131118
74Distal lower limb amyotrophy (HP:0008944)2.30643195
75Fibular aplasia (HP:0002990)2.30153637
76Soft skin (HP:0000977)2.29407195
77Cystic liver disease (HP:0006706)2.29230858
78Infantile muscular hypotonia (HP:0008947)2.29000889
79Neoplasm of the adrenal cortex (HP:0100641)2.28881596
80Abnormality of the proximal phalanges of the hand (HP:0009834)2.26526690
81Calf muscle hypertrophy (HP:0008981)2.25110269
82Dilatation of the ascending aorta (HP:0005111)2.23876224
83Hypoplasia of the pons (HP:0012110)2.23724892
84Attenuation of retinal blood vessels (HP:0007843)2.23441809
85Nephrogenic diabetes insipidus (HP:0009806)2.23240750
86Abnormality of the nasal septum (HP:0000419)2.22740474
87Broad metatarsal (HP:0001783)2.22525271
88Bell-shaped thorax (HP:0001591)2.22449725
89Scapular winging (HP:0003691)2.21146727
90Generalized muscle weakness (HP:0003324)2.19285117
91Popliteal pterygium (HP:0009756)2.18941111
92Sclerocornea (HP:0000647)2.18891742
93Abnormality of dentin (HP:0010299)2.18672907
94Amelogenesis imperfecta (HP:0000705)2.18381644
95Hyperactive renin-angiotensin system (HP:0000841)2.16698766
96Genetic anticipation (HP:0003743)2.15049938
97Abnormality of the 4th metacarpal (HP:0010012)2.14030250
98Abnormality of the pons (HP:0007361)2.12310559
99Microglossia (HP:0000171)2.12243836
100Bilateral microphthalmos (HP:0007633)2.11705410
101Cervical subluxation (HP:0003308)2.10327026
102Renal cortical cysts (HP:0000803)2.10227359
103Atrophic scars (HP:0001075)2.08947172
104Wide anterior fontanel (HP:0000260)2.08391425
105Postaxial foot polydactyly (HP:0001830)2.07603669
106Keratoconus (HP:0000563)2.06614472
107Increased corneal curvature (HP:0100692)2.06614472
108Hypoplastic ischia (HP:0003175)2.04520844
109Gait imbalance (HP:0002141)2.04451804
110Limb-girdle muscle weakness (HP:0003325)2.02683039
111Congenital primary aphakia (HP:0007707)2.01370141
112Pelvic girdle muscle weakness (HP:0003749)2.01356825
113Abnormality of secondary sexual hair (HP:0009888)2.00629061
114Abnormality of the axillary hair (HP:0100134)2.00629061
115Fetal akinesia sequence (HP:0001989)1.99621475
116Aplasia/Hypoplasia of the tongue (HP:0010295)1.99368419
117Coronal craniosynostosis (HP:0004440)1.99013492
118Increased circulating renin level (HP:0000848)1.98978262
119Bladder diverticulum (HP:0000015)1.98853824
120Septate vagina (HP:0001153)1.98737849
121Polyuria (HP:0000103)1.98219525
122Pendular nystagmus (HP:0012043)1.98182539
123Dislocated radial head (HP:0003083)1.97407842
124Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.96542003
125Poor coordination (HP:0002370)1.96215509
126Fragile skin (HP:0001030)1.96121624
127Genu recurvatum (HP:0002816)1.95535938
128Hypokalemia (HP:0002900)1.95362287
129Chorioretinal atrophy (HP:0000533)1.94538804
130Lissencephaly (HP:0001339)1.94168703
131Knee flexion contracture (HP:0006380)1.92607899
132Congenital, generalized hypertrichosis (HP:0004540)1.90925657
133Abnormality of the radial head (HP:0003995)1.90547347
134Vascular tortuosity (HP:0004948)1.90321615
135Breech presentation (HP:0001623)1.90173516
136Shoulder girdle muscle weakness (HP:0003547)1.89802529
137Hepatoblastoma (HP:0002884)1.89320246
138Concave nail (HP:0001598)1.88337278
139Increased density of long bones (HP:0006392)1.88306985
140Patellar aplasia (HP:0006443)1.88153688
141Anencephaly (HP:0002323)1.88121058
142Abnormality of the ischium (HP:0003174)1.85144895
143Metatarsus adductus (HP:0001840)1.85101434
144Tented upper lip vermilion (HP:0010804)1.84471997
145Tarsal synostosis (HP:0008368)1.84369337
146Elbow flexion contracture (HP:0002987)1.82748695
147Abnormality of the musculature of the pelvis (HP:0001469)1.82204294
148Abnormality of the hip-girdle musculature (HP:0001445)1.82204294
149Aplasia/Hypoplasia of the tibia (HP:0005772)1.81944695
150Blue sclerae (HP:0000592)1.81098467
151Aplasia/Hypoplasia of the patella (HP:0006498)1.81095971
152Renal salt wasting (HP:0000127)1.79356449
153Prostate neoplasm (HP:0100787)1.79072410
154Male pseudohermaphroditism (HP:0000037)1.79017090
155Mitral regurgitation (HP:0001653)1.76556596
156Camptodactyly of toe (HP:0001836)1.76338277
157Lymphangioma (HP:0100764)1.76161708
158Abnormal urine output (HP:0012590)1.75989446
159Abnormal number of incisors (HP:0011064)1.75614491
160Buphthalmos (HP:0000557)1.74883614
161Long clavicles (HP:0000890)1.73811432
162Trismus (HP:0000211)1.73118367
163Tachypnea (HP:0002789)1.71972526
164Arterial tortuosity (HP:0005116)1.71923352
165Azoospermia (HP:0000027)1.71815293
166Postaxial hand polydactyly (HP:0001162)1.71451717
167Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)1.70761105
168Furrowed tongue (HP:0000221)1.68129993
169Protruding tongue (HP:0010808)1.67050546
170Genital tract atresia (HP:0001827)1.66708632
171Bulbous nose (HP:0000414)1.66291142
172Disproportionate short-trunk short stature (HP:0003521)1.66270683
173Renal dysplasia (HP:0000110)1.66216047
174Hyperglycinuria (HP:0003108)1.66032584
175Exotropia (HP:0000577)1.65663329
176Microretrognathia (HP:0000308)1.64558947
177Abnormality of the distal phalanx of the thumb (HP:0009617)1.64193427
178Abnormality of the aortic arch (HP:0012303)1.62702696
179Abnormal rod and cone electroretinograms (HP:0008323)1.62689894
180Occipital encephalocele (HP:0002085)1.62119009
181Short thumb (HP:0009778)1.61828709
182Bony spicule pigmentary retinopathy (HP:0007737)1.61625904
183Vaginal atresia (HP:0000148)1.61112203
184Gonadotropin excess (HP:0000837)1.61019240
185Congenital hepatic fibrosis (HP:0002612)1.59376499
186Acute encephalopathy (HP:0006846)1.58721065
187Retinal dysplasia (HP:0007973)1.58483422
188Preaxial hand polydactyly (HP:0001177)1.58309658
189Abnormality of the parathyroid morphology (HP:0011766)1.58195816
190Acute necrotizing encephalopathy (HP:0006965)1.58004124
191Abnormal tarsal ossification (HP:0008369)1.57955471
192Broad-based gait (HP:0002136)1.56284216
193Increased CSF lactate (HP:0002490)1.56093916
194Inability to walk (HP:0002540)1.55550337

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN5.16238040
2FRK4.80950156
3OBSCN4.73346909
4WNK34.08892542
5TRIB33.38852823
6CDK123.16345379
7DDR23.15363745
8AKT33.09496912
9EPHA32.96420719
10LATS12.64904639
11PDGFRA2.53022930
12STK392.26675247
13TNK22.22719896
14PIK3CG2.21153729
15LATS22.06409475
16TAOK12.05532347
17DMPK2.03624355
18MOS1.96328136
19SIK11.92310285
20OXSR11.90299137
21EPHB21.89980215
22BMPR1B1.85853204
23MAP4K21.77107542
24TGFBR21.75970278
25PAK41.74432769
26MAP3K101.72468118
27NUAK11.72382769
28ZAK1.66668146
29ADRBK21.65827148
30ERN11.53576476
31VRK21.50357507
32MAPK131.45461233
33RIPK11.42018206
34MAP3K71.41789451
35NEK11.41570690
36PRKD31.40488908
37WNK41.38878188
38MAP3K41.37126539
39PRKCI1.34266236
40PINK11.33680951
41PNCK1.31914931
42TLK11.29240876
43GRK11.28364933
44PIM21.25962492
45PKN21.24918142
46WNK11.23536695
47INSRR1.21144747
48FGFR11.16388145
49ACVR1B1.16096652
50EEF2K1.16042797
51PTK21.15136218
52MKNK21.13953571
53BMX1.13099975
54CDK81.12342948
55EPHA21.09722726
56MTOR1.05990909
57PAK21.04036716
58STK160.99900803
59BRSK20.98142989
60AKT20.98005604
61BCKDK0.97223983
62TAF10.95754923
63CAMK10.95159076
64FGFR30.93441436
65KSR10.92548473
66PTK60.92320786
67PHKG20.91930649
68PHKG10.91930649
69TTK0.91066440
70EIF2AK30.90653418
71MARK10.90432143
72STK30.90420658
73CAMKK20.90385060
74TAOK30.88277012
75TRPM70.87724894
76MAP2K30.86225581
77DAPK20.85310799
78PAK30.84719520
79CAMK1G0.82825022
80DYRK1B0.82615313
81STK38L0.81751818
82CASK0.81702561
83NME10.79830510
84TRIM280.78597463
85MAPKAPK30.76032510
86GRK50.75657184
87LRRK20.74557271
88ERBB30.74018629
89ROCK10.73216485
90BUB10.73114384
91TYRO30.71962942
92PRKCE0.69373571
93CHEK20.68682662
94CSNK1A1L0.64823547
95MUSK0.64409398
96ICK0.64027147
97STK100.63644617
98ERBB20.62343046
99NEK20.60617947
100CDK90.58447301
101MST1R0.57660399
102GRK60.57373776
103CDK60.57148043
104EPHA40.57091761
105PDGFRB0.56928551
106PAK60.56822263
107RPS6KA40.56382205
108ROCK20.56231709
109SGK20.55945228
110CHUK0.55658222
111ADRBK10.53721307
112CAMK1D0.53528568
113CDK70.52460590
114SGK4940.50079034
115SGK2230.50079034
116FER0.49995302
117PDK40.48562781
118PDK30.48562781
119PRKCZ0.48359797
120MAPKAPK50.47841827
121MELK0.47707493
122CSNK1G30.47660532
123CSNK1G10.46772475
124VRK10.45239434
125ILK0.44522831
126STK110.43704548
127CSNK1G20.43386052
128EIF2AK10.43054646
129CDK150.42648261
130NEK90.42587914
131BCR0.42571983
132CAMK40.41409645
133CDK180.41347911
134PRKAA10.40696181
135AURKB0.40568498
136PRKCG0.38778909
137MAPK150.38382093
138MAP2K70.38344644
139PRKD20.36896930
140CDK140.36588612
141MKNK10.36116096
142CSNK1A10.35682499
143RPS6KA50.34318164
144CDK11A0.34256733
145CDC70.33400268
146MET0.32757845
147MARK20.32244876
148MAP3K80.31818587
149EIF2AK20.31748574
150PTK2B0.31465729
151CSF1R0.31324607
152NTRK30.30690104
153TNIK0.30261284
154PLK10.29993386
155GSK3A0.28869959
156PRKAA20.27227630
157BRD40.26487110
158MAPK120.26440897
159MAP2K40.26041208
160FGFR20.25008146
161PRKCH0.24768708
162STK380.24487574
163INSR0.24433237
164CDK40.24032969
165NTRK10.23094931

Predicted pathways (KEGG)

RankGene SetZ-score
1Basal cell carcinoma_Homo sapiens_hsa052173.41373426
2Fatty acid biosynthesis_Homo sapiens_hsa000613.08144470
3Hedgehog signaling pathway_Homo sapiens_hsa043402.87367902
4Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.83036314
5Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.77442757
6ECM-receptor interaction_Homo sapiens_hsa045122.59166635
7Dilated cardiomyopathy_Homo sapiens_hsa054142.50087116
8Hippo signaling pathway_Homo sapiens_hsa043902.45346943
9Focal adhesion_Homo sapiens_hsa045102.45168506
10Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.35174143
11Proteoglycans in cancer_Homo sapiens_hsa052052.29767088
12RNA polymerase_Homo sapiens_hsa030202.22373014
13Bladder cancer_Homo sapiens_hsa052192.15749975
14Adherens junction_Homo sapiens_hsa045202.12107417
15Protein digestion and absorption_Homo sapiens_hsa049742.07405203
16Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.06574439
17MicroRNAs in cancer_Homo sapiens_hsa052062.05578961
18Homologous recombination_Homo sapiens_hsa034401.93585943
192-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.89779029
20Phototransduction_Homo sapiens_hsa047441.88065934
21Fanconi anemia pathway_Homo sapiens_hsa034601.87345423
22Oxidative phosphorylation_Homo sapiens_hsa001901.86410278
23Linoleic acid metabolism_Homo sapiens_hsa005911.84617916
24alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.83036520
25Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.81790790
26TGF-beta signaling pathway_Homo sapiens_hsa043501.68716042
27Maturity onset diabetes of the young_Homo sapiens_hsa049501.66128426
28Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.65378591
29Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.62591714
30Tight junction_Homo sapiens_hsa045301.57651598
31Protein export_Homo sapiens_hsa030601.55256713
32Nicotine addiction_Homo sapiens_hsa050331.53107657
33Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.43702606
34Basal transcription factors_Homo sapiens_hsa030221.43664904
35Nitrogen metabolism_Homo sapiens_hsa009101.43651508
36Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.42767692
37Wnt signaling pathway_Homo sapiens_hsa043101.38903804
38Viral myocarditis_Homo sapiens_hsa054161.38802330
39One carbon pool by folate_Homo sapiens_hsa006701.37752500
40AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.35229244
41Insulin secretion_Homo sapiens_hsa049111.34895984
42Chronic myeloid leukemia_Homo sapiens_hsa052201.34726328
43Huntingtons disease_Homo sapiens_hsa050161.33519356
44Taste transduction_Homo sapiens_hsa047421.31156809
45Regulation of actin cytoskeleton_Homo sapiens_hsa048101.30952275
46Amoebiasis_Homo sapiens_hsa051461.28330147
47Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.27164756
48Cell cycle_Homo sapiens_hsa041101.26937730
49Selenocompound metabolism_Homo sapiens_hsa004501.25780055
50Parkinsons disease_Homo sapiens_hsa050121.25748727
51Central carbon metabolism in cancer_Homo sapiens_hsa052301.23135788
52Small cell lung cancer_Homo sapiens_hsa052221.21592214
53Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.21542890
54mTOR signaling pathway_Homo sapiens_hsa041501.21527357
55Salivary secretion_Homo sapiens_hsa049701.21524330
56AMPK signaling pathway_Homo sapiens_hsa041521.21482263
57Pathways in cancer_Homo sapiens_hsa052001.20203145
58Axon guidance_Homo sapiens_hsa043601.17628881
59p53 signaling pathway_Homo sapiens_hsa041151.17008325
60Melanogenesis_Homo sapiens_hsa049161.16142868
61Notch signaling pathway_Homo sapiens_hsa043301.15482548
62beta-Alanine metabolism_Homo sapiens_hsa004101.14553402
63Lysine degradation_Homo sapiens_hsa003101.14346305
64Melanoma_Homo sapiens_hsa052181.14154306
65Circadian rhythm_Homo sapiens_hsa047101.11526112
66Pancreatic cancer_Homo sapiens_hsa052121.09723431
67Cardiac muscle contraction_Homo sapiens_hsa042601.07386927
68PI3K-Akt signaling pathway_Homo sapiens_hsa041511.06422738
69Serotonergic synapse_Homo sapiens_hsa047261.05516285
70Glioma_Homo sapiens_hsa052141.04938544
71Ether lipid metabolism_Homo sapiens_hsa005651.02820295
72Renin-angiotensin system_Homo sapiens_hsa046141.02351582
73Olfactory transduction_Homo sapiens_hsa047401.02326563
74Alzheimers disease_Homo sapiens_hsa050101.01642774
75HTLV-I infection_Homo sapiens_hsa051660.99339887
76Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.99042372
77Sulfur relay system_Homo sapiens_hsa041220.97919120
78Leukocyte transendothelial migration_Homo sapiens_hsa046700.95894657
79RNA degradation_Homo sapiens_hsa030180.95261021
80Insulin signaling pathway_Homo sapiens_hsa049100.94774381
81Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.94682247
82Morphine addiction_Homo sapiens_hsa050320.94050467
83Purine metabolism_Homo sapiens_hsa002300.93275612
84Fatty acid metabolism_Homo sapiens_hsa012120.92452827
85FoxO signaling pathway_Homo sapiens_hsa040680.92206965
86Glucagon signaling pathway_Homo sapiens_hsa049220.91450444
87Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.90902161
88ABC transporters_Homo sapiens_hsa020100.89517313
89Circadian entrainment_Homo sapiens_hsa047130.89398850
90Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.88816960
91Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.87769544
92Ovarian steroidogenesis_Homo sapiens_hsa049130.87701780
93Prostate cancer_Homo sapiens_hsa052150.86894833
94Insulin resistance_Homo sapiens_hsa049310.85285049
95Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.83534707
96Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.83448457
97Rap1 signaling pathway_Homo sapiens_hsa040150.83182105
98Colorectal cancer_Homo sapiens_hsa052100.82621475
99Arginine and proline metabolism_Homo sapiens_hsa003300.82364580
100Pyrimidine metabolism_Homo sapiens_hsa002400.82256549
101Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.81334221
102Calcium signaling pathway_Homo sapiens_hsa040200.81196916
103Longevity regulating pathway - mammal_Homo sapiens_hsa042110.80210279
104Glutamatergic synapse_Homo sapiens_hsa047240.79695865
105Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.79661351
106Histidine metabolism_Homo sapiens_hsa003400.78419202
107Oxytocin signaling pathway_Homo sapiens_hsa049210.78264122
108Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.78188864
109Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.77271388
110Dopaminergic synapse_Homo sapiens_hsa047280.76447738
111Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.76440617
112Nucleotide excision repair_Homo sapiens_hsa034200.75961564
113Renal cell carcinoma_Homo sapiens_hsa052110.75668887
114Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.75570499
115Non-homologous end-joining_Homo sapiens_hsa034500.72118854
116Peroxisome_Homo sapiens_hsa041460.72030248
117Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.71807070
118Carbon metabolism_Homo sapiens_hsa012000.71538028
119Thyroid hormone signaling pathway_Homo sapiens_hsa049190.70991788
120Aldosterone synthesis and secretion_Homo sapiens_hsa049250.70380087
121Arachidonic acid metabolism_Homo sapiens_hsa005900.69943343
122Starch and sucrose metabolism_Homo sapiens_hsa005000.69931407
123Renin secretion_Homo sapiens_hsa049240.69887271
124Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.69830561
125GnRH signaling pathway_Homo sapiens_hsa049120.69668217
126VEGF signaling pathway_Homo sapiens_hsa043700.68495689
127Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.67993266
128Cholinergic synapse_Homo sapiens_hsa047250.67706879
129Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.67291625
130Cocaine addiction_Homo sapiens_hsa050300.66650225
131Dorso-ventral axis formation_Homo sapiens_hsa043200.64941192
132Platelet activation_Homo sapiens_hsa046110.64365524
133MAPK signaling pathway_Homo sapiens_hsa040100.62988751
134Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.62875833
135RNA transport_Homo sapiens_hsa030130.62511503
136GABAergic synapse_Homo sapiens_hsa047270.62402715
137Mineral absorption_Homo sapiens_hsa049780.62195162
138Non-small cell lung cancer_Homo sapiens_hsa052230.61157375
139Adipocytokine signaling pathway_Homo sapiens_hsa049200.61026942
140Transcriptional misregulation in cancer_Homo sapiens_hsa052020.59312331
141Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.59141151
142cGMP-PKG signaling pathway_Homo sapiens_hsa040220.58926290
143Metabolic pathways_Homo sapiens_hsa011000.58734059
144Choline metabolism in cancer_Homo sapiens_hsa052310.58403480
145Long-term depression_Homo sapiens_hsa047300.57173441
146Cysteine and methionine metabolism_Homo sapiens_hsa002700.56734836
147Gap junction_Homo sapiens_hsa045400.56005726
148Ribosome_Homo sapiens_hsa030100.55954110
149Collecting duct acid secretion_Homo sapiens_hsa049660.55554529
150Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.55534995
151HIF-1 signaling pathway_Homo sapiens_hsa040660.54431507
152Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.54042765
153cAMP signaling pathway_Homo sapiens_hsa040240.53423603
154Viral carcinogenesis_Homo sapiens_hsa052030.51808371
155Primary bile acid biosynthesis_Homo sapiens_hsa001200.50884819
156Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.50681416
157Fatty acid degradation_Homo sapiens_hsa000710.50062967
158Phospholipase D signaling pathway_Homo sapiens_hsa040720.49602401
159Propanoate metabolism_Homo sapiens_hsa006400.49170711
160Vascular smooth muscle contraction_Homo sapiens_hsa042700.48932922
161Endometrial cancer_Homo sapiens_hsa052130.48706947
162Steroid hormone biosynthesis_Homo sapiens_hsa001400.48463878
163Bile secretion_Homo sapiens_hsa049760.48309684
164Gastric acid secretion_Homo sapiens_hsa049710.48220756
165Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.46770863
166Thyroid hormone synthesis_Homo sapiens_hsa049180.45604277
167Pyruvate metabolism_Homo sapiens_hsa006200.45414780
168Butanoate metabolism_Homo sapiens_hsa006500.43001057
169Tryptophan metabolism_Homo sapiens_hsa003800.40702742
170Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.40135215
171Malaria_Homo sapiens_hsa051440.38524537
172Biosynthesis of amino acids_Homo sapiens_hsa012300.38054336

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