SSH1

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





Description: The protein encoded by this gene belongs to the slingshot homolog (SSH) family of phosphatases, which regulate actin filament dynamics. The SSH proteins dephosphorylate and activate the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Cofilin is inactivated by kinases such as LIM domain kinase-1 (LIMK1), which may also be dephosphorylated and inactivated by SSH proteins. The SSH family thus appears to play a role in actin dynamics by reactivating cofilin proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1proline biosynthetic process (GO:0006561)9.92296349
2embryonic process involved in female pregnancy (GO:0060136)8.28578345
3transcription from mitochondrial promoter (GO:0006390)7.86927362
4replication fork processing (GO:0031297)7.55711835
5positive regulation of protein homooligomerization (GO:0032464)7.45218506
6proline metabolic process (GO:0006560)7.44367900
7regulation of integrin activation (GO:0033623)6.93482753
8oxidative demethylation (GO:0070989)6.32449939
9regulation of protein homooligomerization (GO:0032462)6.23266113
10establishment of apical/basal cell polarity (GO:0035089)6.14525099
11maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)6.12031122
12poly(A)+ mRNA export from nucleus (GO:0016973)5.84981218
13DNA deamination (GO:0045006)5.65537565
14establishment or maintenance of monopolar cell polarity (GO:0061339)5.48637542
15establishment of monopolar cell polarity (GO:0061162)5.48637542
16DNA strand renaturation (GO:0000733)5.24373627
17negative regulation of JAK-STAT cascade (GO:0046426)5.10692648
18embryonic placenta development (GO:0001892)4.99850279
19mitochondrial DNA metabolic process (GO:0032042)4.90171388
20somatic hypermutation of immunoglobulin genes (GO:0016446)4.77207863
21somatic diversification of immune receptors via somatic mutation (GO:0002566)4.77207863
22cellular response to zinc ion (GO:0071294)4.70370297
23face development (GO:0060324)4.67527573
24negative regulation of cell cycle arrest (GO:0071157)4.67312957
25DNA integration (GO:0015074)4.64165191
26positive regulation of developmental pigmentation (GO:0048087)4.61309645
27negative regulation of Ras GTPase activity (GO:0034261)4.48198488
28embryonic camera-type eye development (GO:0031076)4.35706478
29negative regulation of protein oligomerization (GO:0032460)4.26378466
30histone H4-K12 acetylation (GO:0043983)4.23060299
31mitotic G1 DNA damage checkpoint (GO:0031571)4.21513632
32positive regulation of protein oligomerization (GO:0032461)4.17008192
33viral mRNA export from host cell nucleus (GO:0046784)4.12712168
34mRNA cleavage (GO:0006379)4.10261816
35convergent extension (GO:0060026)3.99746877
36positive regulation by host of viral transcription (GO:0043923)3.95088674
37regulation of protein oligomerization (GO:0032459)3.94542901
38negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.91124591
39base-excision repair (GO:0006284)3.90236382
40negative regulation of heart rate (GO:0010459)3.77909816
41G1 DNA damage checkpoint (GO:0044783)3.77566748
42base-excision repair, AP site formation (GO:0006285)3.76828903
43glial cell migration (GO:0008347)3.72260856
44regulation of branching involved in salivary gland morphogenesis (GO:0060693)3.69756392
45DNA double-strand break processing (GO:0000729)3.65917012
46mitotic G1/S transition checkpoint (GO:0044819)3.64941647
47anatomical structure regression (GO:0060033)3.60945834
48glutamine family amino acid biosynthetic process (GO:0009084)3.60006016
49dosage compensation (GO:0007549)3.57878364
50meiotic chromosome segregation (GO:0045132)3.57285739
51trophectodermal cell differentiation (GO:0001829)3.52456467
52pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.45259520
53DNA demethylation (GO:0080111)3.44952301
54regulation of mitochondrial depolarization (GO:0051900)3.43773441
55hypotonic response (GO:0006971)3.43590350
56positive regulation of DNA repair (GO:0045739)3.43380497
57angiogenesis involved in wound healing (GO:0060055)3.40888265
58membrane invagination (GO:0010324)3.40156723
59negative regulation of mRNA splicing, via spliceosome (GO:0048025)3.38512586
60positive regulation of fatty acid beta-oxidation (GO:0032000)3.37316788
61telomere maintenance via semi-conservative replication (GO:0032201)3.36946940
62nodal signaling pathway (GO:0038092)3.36090046
63embryonic eye morphogenesis (GO:0048048)3.35515727
64negative regulation of fatty acid biosynthetic process (GO:0045717)3.33954601
65positive regulation of mitotic sister chromatid separation (GO:1901970)3.33630683
66positive regulation of mitotic metaphase/anaphase transition (GO:0045842)3.33630683
67positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)3.33630683
68DNA ligation (GO:0006266)3.28969172
69establishment of protein localization to mitochondrial membrane (GO:0090151)3.27833352
70negative regulation of tumor necrosis factor production (GO:0032720)3.25130142
71regulation of double-strand break repair via homologous recombination (GO:0010569)3.23655488
72apoptotic process involved in morphogenesis (GO:0060561)3.23457455
73regulation of translational fidelity (GO:0006450)3.23413719
74regulation of cAMP-dependent protein kinase activity (GO:2000479)3.23243780
75nucleotide-excision repair, DNA gap filling (GO:0006297)3.21845830
76GDP-mannose metabolic process (GO:0019673)3.20359094
77epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.20201620
78endodermal cell differentiation (GO:0035987)3.18919792
79DNA topological change (GO:0006265)3.18329959
80formation of translation preinitiation complex (GO:0001731)3.17749854
81cell migration involved in heart development (GO:0060973)3.16784582
82spliceosomal tri-snRNP complex assembly (GO:0000244)3.16626613
83plasma membrane repair (GO:0001778)3.15908420
84regulation of sister chromatid cohesion (GO:0007063)3.13747261
85tooth mineralization (GO:0034505)3.13592456
86regulation of double-strand break repair (GO:2000779)3.12971163
87non-recombinational repair (GO:0000726)3.12912507
88double-strand break repair via nonhomologous end joining (GO:0006303)3.12912507
89auditory receptor cell stereocilium organization (GO:0060088)3.12667541
90negative regulation of tumor necrosis factor superfamily cytokine production (GO:1903556)3.12223419
91regulation of apoptotic process involved in morphogenesis (GO:1902337)3.11669675
92signal complex assembly (GO:0007172)3.11186233
93cell adhesion mediated by integrin (GO:0033627)3.07270761
94negative regulation of chondrocyte differentiation (GO:0032331)3.07154978
95negative regulation of stress fiber assembly (GO:0051497)3.06880651
96activation of Rac GTPase activity (GO:0032863)3.05479630
97regulation of podosome assembly (GO:0071801)3.05349625
98retinoic acid receptor signaling pathway (GO:0048384)3.04875198
99negative regulation of platelet activation (GO:0010544)3.04768629
100skin morphogenesis (GO:0043589)3.03417631
101positive regulation of T cell apoptotic process (GO:0070234)3.02200549
102negative regulation of mRNA processing (GO:0050686)3.01944642
103substrate-dependent cell migration (GO:0006929)3.01903054
104kinetochore assembly (GO:0051382)3.00931281
105negative regulation of viral release from host cell (GO:1902187)3.00717783
106positive regulation of receptor recycling (GO:0001921)3.00162117
107nuclear envelope reassembly (GO:0031468)2.98834176
108mitotic nuclear envelope reassembly (GO:0007084)2.98834176
109regulation of RNA export from nucleus (GO:0046831)2.97950339
110termination of RNA polymerase II transcription (GO:0006369)2.97733045
111mitochondrial RNA metabolic process (GO:0000959)2.96462101
112regulation of cell size (GO:0008361)2.95313679
113wound healing, spreading of epidermal cells (GO:0035313)2.95216198
114pericardium development (GO:0060039)2.92392052
115regulation of syncytium formation by plasma membrane fusion (GO:0060142)2.81772916
116platelet-derived growth factor receptor signaling pathway (GO:0048008)2.75170071
117positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.74180904
118negative regulation of axon extension involved in axon guidance (GO:0048843)2.73716902
119positive regulation of metanephros development (GO:0072216)2.71547224
120endocardial cushion development (GO:0003197)2.70611934
121negative regulation of fatty acid transport (GO:2000192)2.68785519
122regulation of smooth muscle cell migration (GO:0014910)2.66229940
123positive regulation of fatty acid oxidation (GO:0046321)2.64201165
124venous blood vessel morphogenesis (GO:0048845)2.61401923
125negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)2.59355365
126regulation of phospholipid biosynthetic process (GO:0071071)2.57701778
127heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.53411967
128chondrocyte proliferation (GO:0035988)2.53196507
129negative regulation of hormone biosynthetic process (GO:0032353)2.52669789
130modulation by organism of defense response of other organism involved in symbiotic interaction (GO:02.52620748
131positive regulation by organism of defense response of other organism involved in symbiotic interact2.52620748
132modulation by symbiont of host immune response (GO:0052553)2.52620748
133positive regulation by symbiont of host defense response (GO:0052509)2.52620748
134modulation by symbiont of host defense response (GO:0052031)2.52620748
135modulation by organism of immune response of other organism involved in symbiotic interaction (GO:002.52620748
136lymphangiogenesis (GO:0001946)2.50482875
137positive regulation of cardiac muscle cell differentiation (GO:2000727)2.47534287
138collagen fibril organization (GO:0030199)2.45983032
139negative regulation of protein autophosphorylation (GO:0031953)2.45102562
140wound healing (GO:0042060)2.43593871
141cell-substrate junction assembly (GO:0007044)2.41520289
142smooth muscle tissue development (GO:0048745)2.41194346
143regulation of cell proliferation involved in kidney development (GO:1901722)2.40558119
144mesenchymal-epithelial cell signaling (GO:0060638)2.39365359
145positive regulation of fibroblast migration (GO:0010763)2.38948938
146positive regulation of blood vessel endothelial cell migration (GO:0043536)2.38490834
147negative regulation of homotypic cell-cell adhesion (GO:0034111)2.37843862
148regulation of hippo signaling (GO:0035330)2.35872154
149negative regulation of macrophage derived foam cell differentiation (GO:0010745)2.35040877
150protein localization to endosome (GO:0036010)2.35033070
151regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.33016203
152wound healing, spreading of cells (GO:0044319)2.30842535
153positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.30801471
154negative regulation of nitric-oxide synthase activity (GO:0051001)2.29584751
155chondrocyte development (GO:0002063)2.28598924
156mesodermal cell differentiation (GO:0048333)2.27841939
157stress fiber assembly (GO:0043149)2.24998575
158regulation of fatty acid beta-oxidation (GO:0031998)2.24975487
159regulation of alkaline phosphatase activity (GO:0010692)2.22021009
160dermatan sulfate biosynthetic process (GO:0030208)2.21822548
161cell migration involved in sprouting angiogenesis (GO:0002042)2.21343743
162regulation of glomerulus development (GO:0090192)2.21227348
163hemidesmosome assembly (GO:0031581)2.20380635
164chondroitin sulfate biosynthetic process (GO:0030206)2.19105862
165regulation of membrane protein ectodomain proteolysis (GO:0051043)2.19053570
166negative regulation of systemic arterial blood pressure (GO:0003085)2.18307365
167regulation of macrophage cytokine production (GO:0010935)2.15839402
168endothelial cell morphogenesis (GO:0001886)2.15550816
169protein heterotrimerization (GO:0070208)2.15373895
170cellular response to exogenous dsRNA (GO:0071360)2.14444205
171negative regulation of lipid storage (GO:0010888)2.13154678
172dermatan sulfate metabolic process (GO:0030205)2.12546201
173mRNA transcription (GO:0009299)2.12519331
174macrophage activation involved in immune response (GO:0002281)2.11848730
175positive regulation of smooth muscle cell migration (GO:0014911)2.11228041
176regulation of metanephros development (GO:0072215)2.11054969
177regulation of integrin-mediated signaling pathway (GO:2001044)2.10796148
178vascular endothelial growth factor signaling pathway (GO:0038084)2.10674815
179cellular response to vitamin (GO:0071295)2.10326738
180regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)2.09831478
181negative chemotaxis (GO:0050919)2.09210213
182positive regulation of protein autophosphorylation (GO:0031954)2.08627178
183basement membrane organization (GO:0071711)2.08596693
184face morphogenesis (GO:0060325)2.06919969
185cellular response to nutrient (GO:0031670)2.06767623
186integrin-mediated signaling pathway (GO:0007229)2.06598270
187kidney mesenchyme development (GO:0072074)2.06334922
188adhesion of symbiont to host cell (GO:0044650)2.05701173
189virion attachment to host cell (GO:0019062)2.05701173
190negative regulation of axon guidance (GO:1902668)2.05103846
191mannose metabolic process (GO:0006013)2.04024677
192negative regulation of hormone metabolic process (GO:0032351)2.03869560
193membrane raft organization (GO:0031579)2.00643662
194cellular response to vitamin D (GO:0071305)2.00327194
195pathway-restricted SMAD protein phosphorylation (GO:0060389)1.99586162
196response to muramyl dipeptide (GO:0032495)1.99079584
197mammary gland epithelial cell proliferation (GO:0033598)1.99063653
198vascular endothelial growth factor receptor signaling pathway (GO:0048010)1.99022922
199insulin-like growth factor receptor signaling pathway (GO:0048009)1.98980616

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KLF5_18264089_ChIP-ChIP_MESCs_Mouse4.30729802
2KLF4_18264089_ChIP-ChIP_MESCs_Mouse4.30729802
3KLF2_18264089_ChIP-ChIP_MESCs_Mouse4.30729802
4ZFP281_18358816_ChIP-ChIP_MESCs_Mouse3.72575059
5SMAD1_18555785_ChIP-Seq_MESCs_Mouse3.70852124
6SMAD_19615063_ChIP-ChIP_OVARY_Human3.48451392
7RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.40479650
8SMAD3_22036565_ChIP-Seq_ESCs_Mouse3.38671023
9STAT6_21828071_ChIP-Seq_BEAS2B_Human3.27558408
10SOX2_18358816_ChIP-ChIP_MESCs_Mouse2.85536371
11VDR_21846776_ChIP-Seq_THP-1_Human2.73842098
12NACC1_18358816_ChIP-ChIP_MESCs_Mouse2.61225470
13NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.54584104
14STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.45866428
15TP63_17297297_ChIP-ChIP_HaCaT_Human2.40356194
16POU5F1_16518401_ChIP-PET_MESCs_Mouse2.37072969
17TCF3_18692474_ChIP-Seq_MESCs_Mouse2.36487881
18KLF4_18358816_ChIP-ChIP_MESCs_Mouse2.28333143
19CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.26917284
20GATA2_21666600_ChIP-Seq_HMVEC_Human2.25110964
21TRIM28_21343339_ChIP-Seq_HEK293_Human2.19446048
22SALL4_18804426_ChIP-ChIP_MESCs_Mouse2.10217194
23LXR_22292898_ChIP-Seq_THP-1_Human2.04340698
24* DACH1_20351289_ChIP-Seq_MDA-MB-231_Human2.04075799
25* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.03055154
26RARG_19884340_ChIP-ChIP_MEFs_Mouse1.98963170
27TCF3_18692474_ChIP-Seq_MEFs_Mouse1.97288469
28ERG_21242973_ChIP-ChIP_JURKAT_Human1.93508956
29PU.1_20513432_ChIP-Seq_Bcells_Mouse1.92977573
30EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.92153734
31* ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.88152322
32TP53_16413492_ChIP-PET_HCT116_Human1.86597146
33* NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.86355842
34ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.85728047
35Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.83829915
36BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.80063519
37* BRD4_25478319_ChIP-Seq_HGPS_Human1.77794598
38NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.77195785
39NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.76905403
40IRF8_22096565_ChIP-ChIP_GC-B_Human1.76183047
41NANOG_21062744_ChIP-ChIP_HESCs_Human1.75237886
42ZFP281_27345836_Chip-Seq_ESCs_Mouse1.74650129
43ZNF217_24962896_ChIP-Seq_MCF-7_Human1.72756200
44* VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.72347258
45* CJUN_26792858_Chip-Seq_BT549_Human1.72235898
46KDM2B_26808549_Chip-Seq_SUP-B15_Human1.69749755
47RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.69323063
48RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.65318825
49STAT3_1855785_ChIP-Seq_MESCs_Mouse1.65072219
50MYC_22102868_ChIP-Seq_BL_Human1.63073410
51RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.60035393
52SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.59433076
53RUNX_20019798_ChIP-Seq_JUKART_Human1.58649970
54NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.57058685
55ZFP281_18757296_ChIP-ChIP_E14_Mouse1.55659949
56AHR_22903824_ChIP-Seq_MCF-7_Human1.55257739
57POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.54499542
58ESR2_21235772_ChIP-Seq_MCF-7_Human1.54407344
59ESR1_21235772_ChIP-Seq_MCF-7_Human1.54368724
60MYC_18555785_ChIP-Seq_MESCs_Mouse1.54114204
61KDM2B_26808549_Chip-Seq_DND41_Human1.53730320
62* VDR_24787735_ChIP-Seq_THP-1_Human1.51998121
63DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.51101572
64* CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.50042769
65IRF8_27001747_Chip-Seq_BMDM_Mouse1.49821984
66EP300_21415370_ChIP-Seq_HL-1_Mouse1.49229047
67CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.45144856
68PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.45094125
69* TET1_21451524_ChIP-Seq_MESCs_Mouse1.44828993
70IRF8_21731497_ChIP-ChIP_J774_Mouse1.44485089
71MYC_19079543_ChIP-ChIP_MESCs_Mouse1.44240553
72TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.43529600
73* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.43234280
74* KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.43019986
75* RACK7_27058665_Chip-Seq_MCF-7_Human1.41815486
76SOX9_24532713_ChIP-Seq_HFSC_Mouse1.41367901
77POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.40793740
78NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.40786403
79HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.39978376
80* PRDM14_21183938_ChIP-Seq_MESCs_Mouse1.39568306
81MYB_21317192_ChIP-Seq_ERMYB_Mouse1.36510204
82PPAR_26484153_Chip-Seq_NCI-H1993_Human1.35573010
83KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.35286237
84* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.35246913
85NANOG_18692474_ChIP-Seq_MESCs_Mouse1.34990379
86TP63_19390658_ChIP-ChIP_HaCaT_Human1.34912998
87FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.33662976
88EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.33153872
89NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.32831725
90* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.32287460
91NANOG_18555785_ChIP-Seq_MESCs_Mouse1.31588394
92CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.31149543
93NRF2_20460467_ChIP-Seq_MEFs_Mouse1.31015033
94NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.31015033
95CDX2_20551321_ChIP-Seq_CACO-2_Human1.30544034
96SALL1_21062744_ChIP-ChIP_HESCs_Human1.29984337
97CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.29612284
98STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.29354124
99STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.29121603
100ELK3_25401928_ChIP-Seq_HUVEC_Human1.28428649
101ARNT_22903824_ChIP-Seq_MCF-7_Human1.28064180
102SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.27008549
103SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.27008549
104TP53_20018659_ChIP-ChIP_R1E_Mouse1.26529626
105SOX2_18692474_ChIP-Seq_MESCs_Mouse1.26468441
106POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.26465862
107TP53_18474530_ChIP-ChIP_U2OS_Human1.26129650
108* NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.25754955
109TP53_22127205_ChIP-Seq_IMR90_Human1.23057455
110KDM2B_26808549_Chip-Seq_K562_Human1.22124468
111TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.22033760
112SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.21933373
113SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.20877106
114TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.18843564
115KLF4_18555785_ChIP-Seq_MESCs_Mouse1.18814909
116NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.18779712
117EGR1_19374776_ChIP-ChIP_THP-1_Human1.18649007
118MYC_18358816_ChIP-ChIP_MESCs_Mouse1.18479122
119ETS1_21867929_ChIP-Seq_TH2_Mouse1.18119489
120IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.17770856
121SPI1_26923725_Chip-Seq_HPCs_Mouse1.17513179
122FOXO3_23340844_ChIP-Seq_DLD1_Human1.17302179
123EED_16625203_ChIP-ChIP_MESCs_Mouse1.17184090
124TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.16327382
125RXRA_24833708_ChIP-Seq_LIVER_Mouse1.15731522
126SOX2_18555785_ChIP-Seq_MESCs_Mouse1.15594667
127* RARB_24833708_ChIP-Seq_LIVER_Mouse1.14613092
128NFIB_24661679_ChIP-Seq_LUNG_Mouse1.13984991
129SOX2_18692474_ChIP-Seq_MEFs_Mouse1.13386370
130SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.12369247
131CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.12070852
132YY1_21170310_ChIP-Seq_MESCs_Mouse1.11082018
133CTCF_21964334_ChIP-Seq_BJAB-B_Human1.10818704
134TCF7_22412390_ChIP-Seq_EML_Mouse1.10733984
135BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.09983866
136WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.09672498
137RING1B_27294783_Chip-Seq_NPCs_Mouse1.09520033
138* CTCF_27219007_Chip-Seq_ERYTHROID_Human1.09271781
139THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.07034595
140* MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.05948315
141WT1_19549856_ChIP-ChIP_CCG9911_Human1.05823826
142* CTNNB1_20460455_ChIP-Seq_HCT116_Human1.05748662
143KDM2B_26808549_Chip-Seq_JURKAT_Human1.05601269
144MTF2_20144788_ChIP-Seq_MESCs_Mouse1.05411070
145MAF_26560356_Chip-Seq_TH1_Human1.02936036
146* STAT1_20625510_ChIP-Seq_HELA_Human1.02325740
147MYC_19030024_ChIP-ChIP_MESCs_Mouse1.02137486
148OCT4_18692474_ChIP-Seq_MEFs_Mouse1.01358732
149CDX2_19796622_ChIP-Seq_MESCs_Mouse1.01284581
150PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.00984402
151NANOG_16518401_ChIP-PET_MESCs_Mouse1.00624731
152* SETDB1_19884255_ChIP-Seq_MESCs_Mouse1.00524153
153RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.00267967
154E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.98971113
155CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.98958464
156EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.97494346
157SMC1_22415368_ChIP-Seq_MEFs_Mouse0.96876001
158KAP1_27257070_Chip-Seq_ESCs_Mouse0.96790215
159ESR1_15608294_ChIP-ChIP_MCF-7_Human0.96689507
160* WT1_25993318_ChIP-Seq_PODOCYTE_Human0.95590897
161* GATA1_22383799_ChIP-Seq_G1ME_Mouse0.95297406
162PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.95128643
163TBX20_22080862_ChIP-Seq_HEART_Mouse0.94822138
164TBX20_22328084_ChIP-Seq_HEART_Mouse0.94822138
165* DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.94271110
166ZNF263_19887448_ChIP-Seq_K562_Human0.94193831
167* P300_27058665_Chip-Seq_ZR-75-30cells_Human0.94036486
168FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.93857907
169* TP63_23658742_ChIP-Seq_EP156T_Human0.93502798
170SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.93109829
171TP53_23651856_ChIP-Seq_MEFs_Mouse0.93000129
172SCL_19346495_ChIP-Seq_HPC-7_Human0.91511787
173* VDR_24763502_ChIP-Seq_THP-1_Human0.91308072
174RARA_24833708_ChIP-Seq_LIVER_Mouse0.91091955
175SPI1_23127762_ChIP-Seq_K562_Human0.90555942
176POU5F1_18347094_ChIP-ChIP_MESCs_Mouse0.90462992
177UBF1/2_26484160_Chip-Seq_HMECs_Human0.90212768
178SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.90130745
179DROSHA_22980978_ChIP-Seq_HELA_Human0.89981353
180JARID2_20075857_ChIP-Seq_MESCs_Mouse0.89477585
181SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.89391592
182RNF2_27304074_Chip-Seq_ESCs_Mouse0.89209094
183ESR1_20079471_ChIP-ChIP_T-47D_Human0.89139610
184SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.88967926
185RNF2_18974828_ChIP-Seq_MESCs_Mouse0.88875933
186EZH2_18974828_ChIP-Seq_MESCs_Mouse0.88875933
187* PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.88684812

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008057_abnormal_DNA_replication6.03018701
2MP0008438_abnormal_cutaneous_collagen5.18998489
3MP0005171_absent_coat_pigmentation4.66691272
4MP0009278_abnormal_bone_marrow4.50762023
5MP0002009_preneoplasia4.02897706
6MP0010030_abnormal_orbit_morphology3.68178864
7MP0003705_abnormal_hypodermis_morpholog3.58153890
8MP0003279_aneurysm3.40399500
9MP0008995_early_reproductive_senescence3.18823584
10MP0005257_abnormal_intraocular_pressure3.06716900
11MP0001958_emphysema3.00003538
12MP0005174_abnormal_tail_pigmentation2.69646199
13MP0004233_abnormal_muscle_weight2.69321933
14MP0003566_abnormal_cell_adhesion2.63353240
15MP0010368_abnormal_lymphatic_system2.56457965
16MP0005503_abnormal_tendon_morphology2.46949914
17MP0003890_abnormal_embryonic-extraembry2.41409844
18MP0002249_abnormal_larynx_morphology2.38004314
19MP0003091_abnormal_cell_migration2.37368496
20MP0005397_hematopoietic_system_phenotyp2.34775130
21MP0001545_abnormal_hematopoietic_system2.34775130
22MP0004133_heterotaxia2.34072014
23MP0004272_abnormal_basement_membrane2.33498842
24MP0000767_abnormal_smooth_muscle2.24561898
25MP0003950_abnormal_plasma_membrane2.18683262
26MP0003283_abnormal_digestive_organ2.17684949
27MP0005023_abnormal_wound_healing2.16124047
28MP0005275_abnormal_skin_tensile2.16044143
29MP0002653_abnormal_ependyma_morphology2.12561121
30MP0001542_abnormal_bone_strength2.09767741
31MP0004134_abnormal_chest_morphology2.08160131
32MP0003786_premature_aging1.89140590
33MP0003119_abnormal_digestive_system1.86992908
34MP0000015_abnormal_ear_pigmentation1.85867526
35MP0005075_abnormal_melanosome_morpholog1.84206233
36MP0009384_cardiac_valve_regurgitation1.83215477
37MP0002877_abnormal_melanocyte_morpholog1.81675163
38MP0002282_abnormal_trachea_morphology1.81206665
39MP0003300_gastrointestinal_ulcer1.79426020
40MP0000733_abnormal_muscle_development1.78607863
41MP0004510_myositis1.77503691
42MP0006072_abnormal_retinal_apoptosis1.74410838
43MP0009053_abnormal_anal_canal1.70117588
44MP0000685_abnormal_immune_system1.68626413
45MP0002998_abnormal_bone_remodeling1.68404393
46MP0003436_decreased_susceptibility_to1.68246545
47MP0001293_anophthalmia1.66842247
48MP0005076_abnormal_cell_differentiation1.65226887
49MP0009250_abnormal_appendicular_skeleto1.64469011
50MP0005623_abnormal_meninges_morphology1.63507409
51MP0000490_abnormal_crypts_of1.61192063
52MP0002295_abnormal_pulmonary_circulatio1.61057953
53MP0003724_increased_susceptibility_to1.59130846
54MP0005595_abnormal_vascular_smooth1.58905529
55MP0003453_abnormal_keratinocyte_physiol1.56612582
56MP0000371_diluted_coat_color1.52592572
57MP0001533_abnormal_skeleton_physiology1.51318702
58MP0003172_abnormal_lysosome_physiology1.50892200
59MP0005409_darkened_coat_color1.50565489
60MP0004130_abnormal_muscle_cell1.47019798
61MP0003303_peritoneal_inflammation1.46882107
62MP0005390_skeleton_phenotype1.44796490
63MP0002086_abnormal_extraembryonic_tissu1.44564126
64MP0010094_abnormal_chromosome_stability1.43881732
65MP0003828_pulmonary_edema1.43660437
66MP0002089_abnormal_postnatal_growth/wei1.42815873
67MP0000470_abnormal_stomach_morphology1.42790712
68MP0008877_abnormal_DNA_methylation1.40272892
69MP0000579_abnormal_nail_morphology1.38057166
70MP0002084_abnormal_developmental_patter1.36373956
71MP0003567_abnormal_fetal_cardiomyocyte1.30815900
72MP0005164_abnormal_response_to1.28767702
73MP0001348_abnormal_lacrimal_gland1.28673552
74MP0002896_abnormal_bone_mineralization1.28562702
75MP0006054_spinal_hemorrhage1.28115050
76MP0002932_abnormal_joint_morphology1.27628000
77MP0001879_abnormal_lymphatic_vessel1.26690561
78MP0008932_abnormal_embryonic_tissue1.24403036
79MP0002085_abnormal_embryonic_tissue1.23513467
80MP0000569_abnormal_digit_pigmentation1.22461900
81MP0008058_abnormal_DNA_repair1.19584588
82MP0003045_fibrosis1.18663285
83MP0001697_abnormal_embryo_size1.18592211
84MP0002163_abnormal_gland_morphology1.18478448
85MP0005367_renal/urinary_system_phenotyp1.16535506
86MP0000516_abnormal_urinary_system1.16535506
87MP0004197_abnormal_fetal_growth/weight/1.15527500
88MP0002419_abnormal_innate_immunity1.15096115
89MP0002166_altered_tumor_susceptibility1.14150988
90MP0005058_abnormal_lysosome_morphology1.13797419
91MP0009780_abnormal_chondrocyte_physiolo1.11880408
92MP0002405_respiratory_system_inflammati1.10994864
93MP0003448_altered_tumor_morphology1.10951355
94MP0010352_gastrointestinal_tract_polyps1.10919662
95MP0002138_abnormal_hepatobiliary_system1.08966575
96MP0000013_abnormal_adipose_tissue1.08538950
97MP0000534_abnormal_ureter_morphology1.08480474
98MP0002933_joint_inflammation1.06061518
99MP0004947_skin_inflammation1.05429859
100MP0001340_abnormal_eyelid_morphology1.05428912
101MP0005645_abnormal_hypothalamus_physiol1.04139204
102MP0004957_abnormal_blastocyst_morpholog1.03669131
103MP0002075_abnormal_coat/hair_pigmentati1.03392192
104MP0000462_abnormal_digestive_system1.03065923
105MP0000343_altered_response_to1.02917869
106MP0000639_abnormal_adrenal_gland1.02683469
107MP0002060_abnormal_skin_morphology1.01509443
108MP0005387_immune_system_phenotype1.00756958
109MP0001790_abnormal_immune_system1.00756958
110MP0001672_abnormal_embryogenesis/_devel0.99959737
111MP0005380_embryogenesis_phenotype0.99959737
112MP0003935_abnormal_craniofacial_develop0.99587697
113MP0002148_abnormal_hypersensitivity_rea0.98774825
114MP0005000_abnormal_immune_tolerance0.98704005
115MP0003755_abnormal_palate_morphology0.98297108
116MP0005464_abnormal_platelet_physiology0.97094757
117MP0004264_abnormal_extraembryonic_tissu0.95880530
118MP0003136_yellow_coat_color0.95024083
119MP0000750_abnormal_muscle_regeneration0.94539043
120MP0009840_abnormal_foam_cell0.94103586
121MP0002116_abnormal_craniofacial_bone0.93337633
122MP0002108_abnormal_muscle_morphology0.93268260
123MP0000762_abnormal_tongue_morphology0.92650972
124MP0005508_abnormal_skeleton_morphology0.92523045
125MP0002114_abnormal_axial_skeleton0.90546320
126MP0002133_abnormal_respiratory_system0.90317681
127MP0005388_respiratory_system_phenotype0.90317681
128MP0003941_abnormal_skin_development0.90314940
129MP0001324_abnormal_eye_pigmentation0.90098499
130MP0009115_abnormal_fat_cell0.90086441
131MP0000003_abnormal_adipose_tissue0.88316136
132MP0009764_decreased_sensitivity_to0.87030362
133MP0002168_other_aberrant_phenotype0.86635322
134MP0001186_pigmentation_phenotype0.86171502
135MP0003385_abnormal_body_wall0.85906415
136MP0000858_altered_metastatic_potential0.85718332
137MP0002111_abnormal_tail_morphology0.85115588
138MP0000163_abnormal_cartilage_morphology0.84851286
139MP0000432_abnormal_head_morphology0.84740153
140MP0000249_abnormal_blood_vessel0.84722089
141MP0001853_heart_inflammation0.84633670
142MP0003111_abnormal_nucleus_morphology0.84441654
143MP0003795_abnormal_bone_structure0.84252288
144MP0004145_abnormal_muscle_electrophysio0.83227319
145MP0001835_abnormal_antigen_presentation0.82187933
146MP0002452_abnormal_antigen_presenting0.81538005
147MP0006082_CNS_inflammation0.81458518
148MP0002019_abnormal_tumor_incidence0.79773404
149MP0000049_abnormal_middle_ear0.79700393
150MP0002006_tumorigenesis0.79353047
151MP0003137_abnormal_impulse_conducting0.79052474
152MP0004883_abnormal_blood_vessel0.78827174
153MP0002113_abnormal_skeleton_development0.78822104
154MP0002128_abnormal_blood_circulation0.78010914
155MP0005248_abnormal_Harderian_gland0.77142378
156MP0003943_abnormal_hepatobiliary_system0.77132540
157MP0000759_abnormal_skeletal_muscle0.76471521
158MP0002751_abnormal_autonomic_nervous0.76215991
159MP0003984_embryonic_growth_retardation0.74339232
160MP0009333_abnormal_splenocyte_physiolog0.74027535
161MP0000350_abnormal_cell_proliferation0.73553463
162MP0001614_abnormal_blood_vessel0.73518117
163MP0001175_abnormal_lung_morphology0.72608971
164MP0010386_abnormal_urinary_bladder0.71496479
165MP0003077_abnormal_cell_cycle0.70905828
166MP0002088_abnormal_embryonic_growth/wei0.70074653
167MP0005197_abnormal_uvea_morphology0.69896771
168MP0002723_abnormal_immune_serum0.69807265
169MP0002269_muscular_atrophy0.69676547
170MP0003936_abnormal_reproductive_system0.69016424
171MP0002115_abnormal_skeleton_extremities0.68734682
172MP0006292_abnormal_olfactory_placode0.67839803
173MP0002938_white_spotting0.67650361
174MP0010630_abnormal_cardiac_muscle0.67566291
175MP0005165_increased_susceptibility_to0.66477389
176MP0004142_abnormal_muscle_tone0.66220377
177MP0001346_abnormal_lacrimal_gland0.66137059
178MP0000428_abnormal_craniofacial_morphol0.65984485
179MP0002332_abnormal_exercise_endurance0.65186200
180MP0000689_abnormal_spleen_morphology0.64427373
181MP0000751_myopathy0.62735505
182MP0002080_prenatal_lethality0.62126242
183MP0000681_abnormal_thyroid_gland0.60783535
184MP0001800_abnormal_humoral_immune0.60434351
185MP0003763_abnormal_thymus_physiology0.60341731

Predicted human phenotypes

RankGene SetZ-score
1Rib fusion (HP:0000902)5.94409925
2Concave nail (HP:0001598)5.26212305
3Increased IgM level (HP:0003496)5.19899572
4Premature rupture of membranes (HP:0001788)4.98740464
5Protrusio acetabuli (HP:0003179)4.98163874
6Hypochromic microcytic anemia (HP:0004840)4.94386342
7Pustule (HP:0200039)4.85230203
8Annular pancreas (HP:0001734)4.85201837
9Facial hemangioma (HP:0000329)4.83341697
10Rectovaginal fistula (HP:0000143)4.73064634
11Rectal fistula (HP:0100590)4.73064634
12Intestinal fistula (HP:0100819)4.47457090
13Alopecia of scalp (HP:0002293)4.40715347
14Aortic dissection (HP:0002647)4.14814239
15Aortic aneurysm (HP:0004942)4.10623576
16Spondylolisthesis (HP:0003302)4.09915038
17Vaginal fistula (HP:0004320)4.08742862
18Turricephaly (HP:0000262)4.02477382
19Intestinal atresia (HP:0011100)4.00265944
20Poikiloderma (HP:0001029)3.98149114
21Ulnar bowing (HP:0003031)3.93055055
22Tongue fasciculations (HP:0001308)3.75913149
23Vascular tortuosity (HP:0004948)3.71452375
24Abnormal hemoglobin (HP:0011902)3.66657459
25Short humerus (HP:0005792)3.63963302
26Abnormality of male internal genitalia (HP:0000022)3.61250040
27Arterial tortuosity (HP:0005116)3.59630510
28Coronal craniosynostosis (HP:0004440)3.51304178
29Muscle fibrillation (HP:0010546)3.48210637
30Aplasia/hypoplasia of the humerus (HP:0006507)3.45660763
31Aplasia/Hypoplasia involving the carpal bones (HP:0006502)3.27729675
32Genetic anticipation (HP:0003743)3.24299411
33Abnormality of the aortic arch (HP:0012303)3.23613279
34Anteriorly placed anus (HP:0001545)3.21681650
35Vertebral hypoplasia (HP:0008417)3.15704661
36Aplasia/Hypoplasia of the vertebrae (HP:0008515)3.15704661
37Alacrima (HP:0000522)3.14351344
38Male infertility (HP:0003251)3.10334275
39Orthostatic hypotension (HP:0001278)3.05939791
40Volvulus (HP:0002580)3.05013998
41Broad alveolar ridges (HP:0000187)3.01874741
42Hypochromic anemia (HP:0001931)3.01607507
43Capillary hemangiomas (HP:0005306)3.00004438
44Congenital hip dislocation (HP:0001374)2.96119454
45Absent radius (HP:0003974)2.93717148
46Aplasia of the musculature (HP:0100854)2.93193987
47Ankle contracture (HP:0006466)2.92077187
48Follicular hyperkeratosis (HP:0007502)2.92064120
49Premature skin wrinkling (HP:0100678)2.78968405
50Albinism (HP:0001022)2.78495424
51Type 1 muscle fiber predominance (HP:0003803)2.77288081
52Aplasia involving forearm bones (HP:0009822)2.74397466
53Absent forearm bone (HP:0003953)2.74397466
54Diaphragmatic weakness (HP:0009113)2.73908847
55Genu recurvatum (HP:0002816)2.73107298
56Atrophic scars (HP:0001075)2.72011038
57Hamartoma (HP:0010566)2.67948591
58Mucopolysacchariduria (HP:0008155)2.66397164
59Urinary glycosaminoglycan excretion (HP:0003541)2.66397164
60Short chin (HP:0000331)2.66043354
61Bladder diverticulum (HP:0000015)2.65082545
62Increased number of teeth (HP:0011069)2.64115464
63Abnormality of glycosphingolipid metabolism (HP:0004343)2.62996465
64Abnormality of glycolipid metabolism (HP:0010969)2.62996465
65Abnormality of liposaccharide metabolism (HP:0010968)2.62996465
66Dilatation of the ascending aorta (HP:0005111)2.62850238
67Absent thumb (HP:0009777)2.61615832
68Fragile skin (HP:0001030)2.59724738
69Bifid uvula (HP:0000193)2.58670555
70Shallow orbits (HP:0000586)2.58121798
71Cerebral aneurysm (HP:0004944)2.56229889
72Soft skin (HP:0000977)2.56063364
73Peritonitis (HP:0002586)2.53936591
74Broad metatarsal (HP:0001783)2.52579064
75Patellar aplasia (HP:0006443)2.49992930
76Dysautonomia (HP:0002459)2.47964804
77Hypotrichosis (HP:0001006)2.47950212
78Mitral valve prolapse (HP:0001634)2.46278399
79Hypotelorism (HP:0000601)2.45710127
80Spinal rigidity (HP:0003306)2.44181528
81Cervical subluxation (HP:0003308)2.42989626
82Aneurysm (HP:0002617)2.42382241
83Polycythemia (HP:0001901)2.41962171
84Abnormality of mucopolysaccharide metabolism (HP:0011020)2.41133140
85Abnormality of polysaccharide metabolism (HP:0011012)2.41133140
86Abnormality of glycosaminoglycan metabolism (HP:0004371)2.41133140
87Bulbar palsy (HP:0001283)2.40532539
88Large for gestational age (HP:0001520)2.39834236
89Decreased lacrimation (HP:0000633)2.38376595
90Pancreatic islet-cell hyperplasia (HP:0004510)2.38086213
91Dysostosis multiplex (HP:0000943)2.37728085
92Amelogenesis imperfecta (HP:0000705)2.37546471
93Narrow nasal bridge (HP:0000446)2.36795756
94Selective tooth agenesis (HP:0001592)2.36448480
95Wormian bones (HP:0002645)2.33757164
96Basal cell carcinoma (HP:0002671)2.33112579
97Growth hormone excess (HP:0000845)2.33060494
98Joint stiffness (HP:0001387)2.31872390
99Clumsiness (HP:0002312)2.31625794
100Mesomelia (HP:0003027)2.30751684
101Blue sclerae (HP:0000592)2.30304753
102Squamous cell carcinoma (HP:0002860)2.29215737
103Gastrointestinal atresia (HP:0002589)2.28122330
104Aortic regurgitation (HP:0001659)2.27936727
105Popliteal pterygium (HP:0009756)2.26746798
106IgA deficiency (HP:0002720)2.26150339
107Radial bowing (HP:0002986)2.25970770
108Vertebral fusion (HP:0002948)2.25167982
109Muscle fiber atrophy (HP:0100295)2.24878313
110Cheilitis (HP:0100825)2.24044277
111Aplasia/Hypoplasia of the patella (HP:0006498)2.23839490
112Acute lymphatic leukemia (HP:0006721)2.22666538
113Abnormality of binocular vision (HP:0011514)2.22306911
114Diplopia (HP:0000651)2.22306911
115Abnormal number of incisors (HP:0011064)2.18841072
116Ovoid vertebral bodies (HP:0003300)2.18629691
117Choanal stenosis (HP:0000452)2.18178629
118Hypercortisolism (HP:0001578)2.16722725
119Split hand (HP:0001171)2.16347822
120Bowing of the arm (HP:0006488)2.15241458
121Bowed forearm bones (HP:0003956)2.15241458
122Type 2 muscle fiber atrophy (HP:0003554)2.15196719
123Vertebral compression fractures (HP:0002953)2.12739175
124Bone cyst (HP:0012062)2.12470287
125Porencephaly (HP:0002132)2.11039170
126Joint laxity (HP:0001388)2.10450975
127Premature graying of hair (HP:0002216)2.07586084
128Small hand (HP:0200055)2.07103353
129Slender build (HP:0001533)2.04939991
130Tented upper lip vermilion (HP:0010804)2.03420771
131Progressive sensorineural hearing impairment (HP:0000408)2.03124058
132Broad face (HP:0000283)2.02181646
133Median cleft lip (HP:0000161)2.00791453
134Hypoplasia of the radius (HP:0002984)2.00496658
135Broad ribs (HP:0000885)1.99159874
136Absent frontal sinuses (HP:0002688)1.99111913
137Keratoconus (HP:0000563)1.98980780
138Increased corneal curvature (HP:0100692)1.98980780
139Persistence of primary teeth (HP:0006335)1.98266004
140Lip pit (HP:0100267)1.96091565
141Hypoplasia of the ulna (HP:0003022)1.96028785
142Morphological abnormality of the middle ear (HP:0008609)1.95983782
143Hypokinesia (HP:0002375)1.95580845
144Exertional dyspnea (HP:0002875)1.95033806
145Emphysema (HP:0002097)1.94969142
146Hematochezia (HP:0002573)1.94861062
147Short 5th finger (HP:0009237)1.94280195
148Lower limb hyperreflexia (HP:0002395)1.94277298
149Neonatal short-limb short stature (HP:0008921)1.93849725
150Redundant skin (HP:0001582)1.93814442
151Increased variability in muscle fiber diameter (HP:0003557)1.93336608
152Aortic valve stenosis (HP:0001650)1.92474028
153Cardiovascular calcification (HP:0011915)1.91927442
154Overgrowth (HP:0001548)1.91733317
155Wrist flexion contracture (HP:0001239)1.90800309
156Spinal cord lesions (HP:0100561)1.89425589
157Syringomyelia (HP:0003396)1.89425589
158Tibial bowing (HP:0002982)1.87851005
159Hypoventilation (HP:0002791)1.87024744
160Obstructive sleep apnea (HP:0002870)1.86211735
161Bradycardia (HP:0001662)1.85566159
162Hypoplasia of the iris (HP:0007676)1.84193806
163Mitral regurgitation (HP:0001653)1.80895317
164Increased connective tissue (HP:0009025)1.80354538
165Mildly elevated creatine phosphokinase (HP:0008180)1.79337651
166Elbow flexion contracture (HP:0002987)1.78541276
167Abnormality of dentin (HP:0010299)1.77176715
168Hyperextensible skin (HP:0000974)1.77132055
169Striae distensae (HP:0001065)1.74517078
170Short 1st metacarpal (HP:0010034)1.73381300
171Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)1.73381300
172Spontaneous hematomas (HP:0007420)1.73095835
173Biconcave vertebral bodies (HP:0004586)1.71349202
174Osteolytic defects of the phalanges of the hand (HP:0009771)1.69752944
175Osteolytic defects of the hand bones (HP:0009699)1.69752944
176Abnormality of the odontoid process (HP:0003310)1.69626191
177Mitral stenosis (HP:0001718)1.67645371
178Hemiplegia (HP:0002301)1.67416223
179Congenital sensorineural hearing impairment (HP:0008527)1.67163615
180Hip contracture (HP:0003273)1.66989980
181Dislocated radial head (HP:0003083)1.66289206
182Disproportionate tall stature (HP:0001519)1.64884992
183Basal ganglia calcification (HP:0002135)1.64634578
184Flared iliac wings (HP:0002869)1.63621539
185Thin bony cortex (HP:0002753)1.62836013
186Wide anterior fontanel (HP:0000260)1.62202040
187Coxa vara (HP:0002812)1.62027462
188Thoracolumbar scoliosis (HP:0002944)1.61791443
189Natal tooth (HP:0000695)1.61682532
190Mild short stature (HP:0003502)1.61515897

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ICK6.03002629
2DDR25.13292383
3MAPK154.86265771
4MAP3K64.32026870
5MATK3.31999233
6MAP3K113.31624831
7PINK13.26015357
8TYRO33.15262805
9FGR2.99239565
10YES12.63101040
11NEK92.57375587
12PIM22.48121594
13CSK2.40039223
14BMX2.35809661
15UHMK12.34631837
16TTN2.24770164
17MYLK2.20022202
18PDGFRA2.18894765
19DYRK1B2.13135133
20DAPK12.07021398
21TRIB31.98593884
22CDK71.87846838
23TRPM71.83050966
24SIK11.72554987
25ERN11.71671617
26PTK2B1.69322875
27PIM11.69056061
28EPHB11.65780948
29MAP3K141.62588766
30IRAK31.61679277
31EPHB21.49232607
32AKT31.48525980
33JAK11.48145549
34FRK1.46946579
35CDC42BPA1.43879188
36CDK121.42361520
37RPS6KL11.41297556
38RPS6KC11.41297556
39MAP2K31.36981562
40PIK3CG1.36328556
41PAK21.35562902
42ZAP701.35462653
43RPS6KA21.29957322
44ADRBK21.29183343
45RPS6KA61.28108405
46CDK61.25792306
47MAPK111.23863289
48KIT1.20178174
49LATS21.19087808
50MAP3K31.14279379
51GSK3A1.13537820
52NTRK11.13170852
53MAP3K71.11886772
54PHKG21.10583612
55PHKG11.10583612
56GRK71.09768966
57MAPK71.08010596
58MELK1.07757807
59MAP3K131.02793928
60PRPF4B1.01370538
61GRK10.98223796
62HIPK20.96744653
63FLT30.95552873
64PKN20.93738187
65MET0.93716049
66MOS0.92247226
67MAPKAPK30.91195749
68CHEK20.90989402
69SGK30.90512982
70JAK30.89613024
71TBK10.87230390
72MAP3K90.86417590
73TYK20.78809088
74CSF1R0.77831366
75RPS6KA10.75876543
76PAK30.74577156
77SMG10.74382146
78PRKAA10.74367399
79MAP2K10.71049974
80IKBKB0.70335013
81HCK0.69607774
82ADRBK10.68986562
83PAK40.68893207
84TAOK30.68126849
85PRKCH0.67187090
86CHUK0.66812300
87DYRK30.64463269
88WNK10.64279370
89MTOR0.64170662
90TIE10.62760599
91CDK90.62720358
92TNK20.62160457
93PDPK10.61904775
94SGK20.61700139
95ABL20.61571086
96PLK10.60371125
97PRKG20.60050975
98ERBB40.59216178
99LYN0.57968054
100TAOK20.57661117
101FGFR40.57509957
102PRKAA20.57475365
103EGFR0.55393766
104PAK60.54764058
105MAP3K100.52865327
106RIPK40.52657525
107MAPK120.51916314
108GRK60.51406650
109RPS6KB10.50705172
110PTK60.49687425
111ERBB30.48322254
112PDGFRB0.46628225
113CSNK1G10.46396478
114ROCK10.46108954
115ROCK20.45659902
116MAPK30.44514642
117MAPK10.42093090
118ATR0.41798633
119MAP4K10.40940088
120DYRK20.38346248
121CDK80.38113808
122CDK20.38094519
123CSNK2A10.36794341
124MAPKAPK20.36681316
125STK30.36499998
126DMPK0.34763636
127MAPK40.33700176
128MARK20.32352807
129LCK0.31765043
130PTK20.31523462
131INSR0.30022434
132MAPK140.29914752
133MAPK100.29490761
134EPHA20.28728844
135ABL10.28512686
136AKT10.28336080
137SGK10.27554650
138ATM0.27203624
139CAMK2G0.26449150
140CAMK2B0.25811162
141PRKCD0.25617688
142RPS6KB20.25280982
143RIPK10.23543357
144STK380.22625284
145LATS10.22323146
146STK38L0.20370420
147MKNK20.20055571
148RAF10.19602544
149CHEK10.17977123
150CSNK2A20.17568433
151BLK0.17298942
152GSK3B0.17164352
153* PRKD20.16838833
154SIK30.15807925
155CDK10.15499433
156AURKA0.15438464
157PRKCZ0.15254736
158SIK20.14356502
159NTRK20.14351026
160CAMK2A0.14321620
161TGFBR20.13642786
162CAMK2D0.12140808
163RPS6KA30.12137164

Predicted pathways (KEGG)

RankGene SetZ-score
1Fatty acid biosynthesis_Homo sapiens_hsa000615.00283429
2Base excision repair_Homo sapiens_hsa034104.31204695
3Mismatch repair_Homo sapiens_hsa034304.11802803
4Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005333.05486637
5DNA replication_Homo sapiens_hsa030302.73640033
6Notch signaling pathway_Homo sapiens_hsa043302.46733280
7Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.44272061
8Hedgehog signaling pathway_Homo sapiens_hsa043402.25153636
9ECM-receptor interaction_Homo sapiens_hsa045122.08460337
10Hippo signaling pathway_Homo sapiens_hsa043902.08073383
11Adherens junction_Homo sapiens_hsa045201.99830752
12Fanconi anemia pathway_Homo sapiens_hsa034601.91663796
13Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.87612270
14mTOR signaling pathway_Homo sapiens_hsa041501.86163547
15Circadian rhythm_Homo sapiens_hsa047101.84036540
16Nucleotide excision repair_Homo sapiens_hsa034201.82800228
17Transcriptional misregulation in cancer_Homo sapiens_hsa052021.81850715
18p53 signaling pathway_Homo sapiens_hsa041151.68329854
19Homologous recombination_Homo sapiens_hsa034401.67586859
20Shigellosis_Homo sapiens_hsa051311.66786227
21mRNA surveillance pathway_Homo sapiens_hsa030151.65320620
22TGF-beta signaling pathway_Homo sapiens_hsa043501.62050829
23Basal cell carcinoma_Homo sapiens_hsa052171.55215507
24Osteoclast differentiation_Homo sapiens_hsa043801.53284028
25Wnt signaling pathway_Homo sapiens_hsa043101.49436766
26Primary immunodeficiency_Homo sapiens_hsa053401.45690139
27TNF signaling pathway_Homo sapiens_hsa046681.42930803
28Longevity regulating pathway - mammal_Homo sapiens_hsa042111.41121014
29Spliceosome_Homo sapiens_hsa030401.37723067
30Malaria_Homo sapiens_hsa051441.36844579
31Amoebiasis_Homo sapiens_hsa051461.34405257
32Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.34326222
33Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.31608556
34Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.31102500
35Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.30757246
36Other glycan degradation_Homo sapiens_hsa005111.30571034
37Arginine and proline metabolism_Homo sapiens_hsa003301.26826873
38Dilated cardiomyopathy_Homo sapiens_hsa054141.24231882
39Bladder cancer_Homo sapiens_hsa052191.24116690
40Toxoplasmosis_Homo sapiens_hsa051451.22175322
41Toll-like receptor signaling pathway_Homo sapiens_hsa046201.21784849
42Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.17827281
43Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.15216884
44Platelet activation_Homo sapiens_hsa046111.14457126
45Cell cycle_Homo sapiens_hsa041101.13867634
46Viral myocarditis_Homo sapiens_hsa054161.13727666
47Leishmaniasis_Homo sapiens_hsa051401.13565050
48Phospholipase D signaling pathway_Homo sapiens_hsa040721.11148758
49RNA transport_Homo sapiens_hsa030131.09173501
50MicroRNAs in cancer_Homo sapiens_hsa052061.08976180
51Lysosome_Homo sapiens_hsa041421.06533590
52Colorectal cancer_Homo sapiens_hsa052101.05836948
53Renal cell carcinoma_Homo sapiens_hsa052111.04667507
54VEGF signaling pathway_Homo sapiens_hsa043701.04625304
55Lysine degradation_Homo sapiens_hsa003101.04514130
56Glioma_Homo sapiens_hsa052141.03456289
57Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.01075197
58Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.96519125
59Acute myeloid leukemia_Homo sapiens_hsa052210.95605477
60Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.94286219
61Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.93302341
62Tuberculosis_Homo sapiens_hsa051520.93091867
63ErbB signaling pathway_Homo sapiens_hsa040120.92755882
64Chronic myeloid leukemia_Homo sapiens_hsa052200.91953404
65Neurotrophin signaling pathway_Homo sapiens_hsa047220.90707754
66Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.89326783
67Vascular smooth muscle contraction_Homo sapiens_hsa042700.88859832
68GnRH signaling pathway_Homo sapiens_hsa049120.88635714
69T cell receptor signaling pathway_Homo sapiens_hsa046600.87898353
70* Regulation of actin cytoskeleton_Homo sapiens_hsa048100.87291375
71Type II diabetes mellitus_Homo sapiens_hsa049300.85263890
72Sulfur relay system_Homo sapiens_hsa041220.84604714
73Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.84472634
74Dorso-ventral axis formation_Homo sapiens_hsa043200.82883214
75Small cell lung cancer_Homo sapiens_hsa052220.82375867
76NOD-like receptor signaling pathway_Homo sapiens_hsa046210.82305522
77Glycosaminoglycan degradation_Homo sapiens_hsa005310.80334715
78Choline metabolism in cancer_Homo sapiens_hsa052310.79530653
79Insulin resistance_Homo sapiens_hsa049310.79514274
80Herpes simplex infection_Homo sapiens_hsa051680.78901595
81Hepatitis C_Homo sapiens_hsa051600.78650828
82Hematopoietic cell lineage_Homo sapiens_hsa046400.78241516
83Leukocyte transendothelial migration_Homo sapiens_hsa046700.77766446
84Adipocytokine signaling pathway_Homo sapiens_hsa049200.76927477
85Tight junction_Homo sapiens_hsa045300.76772921
86Estrogen signaling pathway_Homo sapiens_hsa049150.75387462
87Influenza A_Homo sapiens_hsa051640.74220668
88Maturity onset diabetes of the young_Homo sapiens_hsa049500.74198647
89Thyroid cancer_Homo sapiens_hsa052160.72430992
90cGMP-PKG signaling pathway_Homo sapiens_hsa040220.72058922
91Measles_Homo sapiens_hsa051620.71938683
92Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.71428971
93Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.71328472
94Staphylococcus aureus infection_Homo sapiens_hsa051500.70709130
95Pertussis_Homo sapiens_hsa051330.70496212
96Protein digestion and absorption_Homo sapiens_hsa049740.70283936
97Phagosome_Homo sapiens_hsa041450.67356368
98FoxO signaling pathway_Homo sapiens_hsa040680.66458179
99Non-small cell lung cancer_Homo sapiens_hsa052230.66204920
100Pathways in cancer_Homo sapiens_hsa052000.64872263
101Proteoglycans in cancer_Homo sapiens_hsa052050.64845923
102B cell receptor signaling pathway_Homo sapiens_hsa046620.64260230
103MAPK signaling pathway_Homo sapiens_hsa040100.63682304
104Renin secretion_Homo sapiens_hsa049240.62621982
105Oxytocin signaling pathway_Homo sapiens_hsa049210.62473037
106African trypanosomiasis_Homo sapiens_hsa051430.62278000
107Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.61669273
108Folate biosynthesis_Homo sapiens_hsa007900.61568738
109Cholinergic synapse_Homo sapiens_hsa047250.61559955
110Sphingolipid signaling pathway_Homo sapiens_hsa040710.61543055
111Fructose and mannose metabolism_Homo sapiens_hsa000510.61193744
112PI3K-Akt signaling pathway_Homo sapiens_hsa041510.60627720
113Hepatitis B_Homo sapiens_hsa051610.60599716
114Viral carcinogenesis_Homo sapiens_hsa052030.60465225
115Gap junction_Homo sapiens_hsa045400.59848654
116Oocyte meiosis_Homo sapiens_hsa041140.59692129
117Rheumatoid arthritis_Homo sapiens_hsa053230.59311172
118Focal adhesion_Homo sapiens_hsa045100.59001916
119Graft-versus-host disease_Homo sapiens_hsa053320.58994539
120Prion diseases_Homo sapiens_hsa050200.58616252
121Prostate cancer_Homo sapiens_hsa052150.55084465
122Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.54535886
123Endometrial cancer_Homo sapiens_hsa052130.53856531
124AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.53262148
125HTLV-I infection_Homo sapiens_hsa051660.50029292
126RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.48410143
127Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.47548817
128AMPK signaling pathway_Homo sapiens_hsa041520.46792829
129Basal transcription factors_Homo sapiens_hsa030220.46591025
130Intestinal immune network for IgA production_Homo sapiens_hsa046720.46476730
131Insulin signaling pathway_Homo sapiens_hsa049100.45905979
132Epstein-Barr virus infection_Homo sapiens_hsa051690.43870353
133Ribosome_Homo sapiens_hsa030100.43499853
134Legionellosis_Homo sapiens_hsa051340.43443003
135Jak-STAT signaling pathway_Homo sapiens_hsa046300.43391072
136Chemokine signaling pathway_Homo sapiens_hsa040620.42939735
137Salmonella infection_Homo sapiens_hsa051320.40849398
138Rap1 signaling pathway_Homo sapiens_hsa040150.40377011
139Fatty acid metabolism_Homo sapiens_hsa012120.40036236
140Apoptosis_Homo sapiens_hsa042100.39881570
141Prolactin signaling pathway_Homo sapiens_hsa049170.38328162
142Pancreatic cancer_Homo sapiens_hsa052120.38089001
143Thyroid hormone signaling pathway_Homo sapiens_hsa049190.37006847
144Endocytosis_Homo sapiens_hsa041440.36842455
145Pentose and glucuronate interconversions_Homo sapiens_hsa000400.35252342
146Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.30791913
147Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.30424645
148Biosynthesis of amino acids_Homo sapiens_hsa012300.30413065
149NF-kappa B signaling pathway_Homo sapiens_hsa040640.29428528
150Melanoma_Homo sapiens_hsa052180.27633049
151Ras signaling pathway_Homo sapiens_hsa040140.27141760
152Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.27116430
153Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.26676888

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