PRSS56

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 encodes a protein that contains a peptidase S1 domain and possesses trypsin-like serine protease activity. The encoded protein may play a role in eye development, and mutations in this gene are a cause of autosomal recessive posterior microphthalmos. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1proline biosynthetic process (GO:0006561)9.70785496
2midgut development (GO:0007494)9.48554991
3homocysteine metabolic process (GO:0050667)8.49886224
4urea cycle (GO:0000050)8.04752771
5proline metabolic process (GO:0006560)7.48214929
6negative regulation of protein oligomerization (GO:0032460)7.39483358
7regulation of protein homooligomerization (GO:0032462)7.37194429
8citrulline biosynthetic process (GO:0019240)7.29237412
9nuclear pore complex assembly (GO:0051292)7.27443495
10urea metabolic process (GO:0019627)7.23625549
11positive regulation of odontogenesis (GO:0042482)6.87709863
12citrulline metabolic process (GO:0000052)6.80634827
13glial cell proliferation (GO:0014009)6.52114308
14nitrogen cycle metabolic process (GO:0071941)6.49238317
15nuclear pore organization (GO:0006999)6.13257658
16hepatocyte differentiation (GO:0070365)6.12755177
17respiratory system process (GO:0003016)5.82051571
18response to dexamethasone (GO:0071548)5.81368863
19L-serine metabolic process (GO:0006563)5.78189074
20sulfur amino acid catabolic process (GO:0000098)5.57979848
21positive regulation of cellular amide metabolic process (GO:0034250)5.53480677
22pore complex assembly (GO:0046931)5.36520854
23glial cell migration (GO:0008347)5.24863783
24positive regulation of protein homooligomerization (GO:0032464)5.20279507
25anterior/posterior axis specification, embryo (GO:0008595)5.18992771
26L-alpha-amino acid transmembrane transport (GO:1902475)5.03781961
27cAMP catabolic process (GO:0006198)5.01307006
28embryonic process involved in female pregnancy (GO:0060136)4.95352587
29regulation of centriole replication (GO:0046599)4.84409620
30transcription from mitochondrial promoter (GO:0006390)4.82604243
31negative regulation of complement activation (GO:0045916)4.81222649
32regulation of DNA damage checkpoint (GO:2000001)4.80382652
33positive regulation of vascular permeability (GO:0043117)4.77270441
34embryonic camera-type eye development (GO:0031076)4.71162271
35face development (GO:0060324)4.69716367
36establishment of apical/basal cell polarity (GO:0035089)4.67899872
37regulation of inclusion body assembly (GO:0090083)4.67156684
38negative regulation of amyloid precursor protein catabolic process (GO:1902992)4.66919512
39diaphragm development (GO:0060539)4.61991690
40response to growth hormone (GO:0060416)4.53777085
41negative regulation of granulocyte differentiation (GO:0030853)4.46828559
42glutamine family amino acid biosynthetic process (GO:0009084)4.46208957
43regulation of phospholipid biosynthetic process (GO:0071071)4.41504113
44replication fork processing (GO:0031297)4.38271258
45oxidative demethylation (GO:0070989)4.31419392
46DNA deamination (GO:0045006)4.30351643
47cyclic nucleotide catabolic process (GO:0009214)4.28225331
48regulation of integrin activation (GO:0033623)4.26466640
49glutamine metabolic process (GO:0006541)4.26369777
50negative regulation of protein activation cascade (GO:2000258)4.23706460
51atrioventricular valve morphogenesis (GO:0003181)4.17438106
52regulation of protein oligomerization (GO:0032459)4.14611160
53skeletal muscle organ development (GO:0060538)4.12420895
54cornea development in camera-type eye (GO:0061303)4.10138519
55pyrimidine deoxyribonucleotide catabolic process (GO:0009223)4.07963987
56signal complex assembly (GO:0007172)4.07242133
57regulation of respiratory gaseous exchange by neurological system process (GO:0002087)4.05821261
58establishment of monopolar cell polarity (GO:0061162)4.00461610
59establishment or maintenance of monopolar cell polarity (GO:0061339)4.00461610
60very-low-density lipoprotein particle assembly (GO:0034379)3.98718355
61response to food (GO:0032094)3.98629636
62apoptotic process involved in morphogenesis (GO:0060561)3.90248441
63cell wall macromolecule metabolic process (GO:0044036)3.88672839
64cell wall macromolecule catabolic process (GO:0016998)3.88672839
65epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.80091936
66ribosome assembly (GO:0042255)3.79680561
67base-excision repair, AP site formation (GO:0006285)3.73708145
68negative regulation of JAK-STAT cascade (GO:0046426)3.73561662
69regulation of beta-amyloid formation (GO:1902003)3.71211148
70negative regulation of hormone biosynthetic process (GO:0032353)3.70816213
71negative regulation of hormone metabolic process (GO:0032351)3.70816213
72epithelial cilium movement (GO:0003351)3.64796655
73folic acid metabolic process (GO:0046655)3.62469815
74pyrimidine nucleotide catabolic process (GO:0006244)3.61967795
75negative regulation of humoral immune response (GO:0002921)3.61448715
76mitochondrial DNA metabolic process (GO:0032042)3.61026779
77regulation of hippo signaling (GO:0035330)3.55468966
78response to misfolded protein (GO:0051788)3.53949598
79regulation of Wnt signaling pathway involved in heart development (GO:0003307)3.52923466
80mitotic G1 DNA damage checkpoint (GO:0031571)3.48669080
81positive regulation of osteoblast proliferation (GO:0033690)3.48211815
82negative regulation of astrocyte differentiation (GO:0048712)3.47670255
83regulation of steroid hormone biosynthetic process (GO:0090030)3.45528668
84cellular response to cholesterol (GO:0071397)3.45104926
85mitochondrial fragmentation involved in apoptotic process (GO:0043653)3.42869276
86regulation of tight junction assembly (GO:2000810)3.42655047
87maturation of SSU-rRNA (GO:0030490)3.42505570
88ribosome biogenesis (GO:0042254)3.40844314
89eye photoreceptor cell differentiation (GO:0001754)3.40763607
90photoreceptor cell differentiation (GO:0046530)3.40763607
91cGMP-mediated signaling (GO:0019934)3.40358808
92cytokine production involved in immune response (GO:0002367)3.38697744
93convergent extension (GO:0060026)3.38336333
94positive regulation of immune response to tumor cell (GO:0002839)3.35351470
95regulation of immune response to tumor cell (GO:0002837)3.35351470
96regulation of response to tumor cell (GO:0002834)3.35351470
97positive regulation of response to tumor cell (GO:0002836)3.35351470
98protein destabilization (GO:0031648)3.35048494
99polarized epithelial cell differentiation (GO:0030859)3.30797684
100ribosomal large subunit biogenesis (GO:0042273)3.29538476
101ribonucleoprotein complex biogenesis (GO:0022613)3.28963438
102regulation of glucocorticoid metabolic process (GO:0031943)3.28551810
103serine family amino acid biosynthetic process (GO:0009070)3.26698855
104pericardium development (GO:0060039)3.26008781
105positive regulation of transcription from RNA polymerase III promoter (GO:0045945)3.25905562
106axonemal dynein complex assembly (GO:0070286)3.25257206
107tRNA methylation (GO:0030488)3.24725422
108regulation of sister chromatid cohesion (GO:0007063)3.22894927
109non-recombinational repair (GO:0000726)3.22116307
110double-strand break repair via nonhomologous end joining (GO:0006303)3.22116307
111ribosomal small subunit biogenesis (GO:0042274)3.21980705
112layer formation in cerebral cortex (GO:0021819)3.21748791
113negative regulation of Ras GTPase activity (GO:0034261)3.20346055
114regulation of centrosome duplication (GO:0010824)3.19454850
115regulation of centrosome cycle (GO:0046605)3.18637157
116positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)3.17649628
117glycogen catabolic process (GO:0005980)3.17111570
118DNA replication initiation (GO:0006270)3.16921531
119regulation of relaxation of muscle (GO:1901077)3.16380775
120maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)3.16173510
121somatic diversification of immune receptors via somatic mutation (GO:0002566)3.15848062
122somatic hypermutation of immunoglobulin genes (GO:0016446)3.15848062
123chaperone-mediated protein complex assembly (GO:0051131)3.14584527
124negative regulation of vascular permeability (GO:0043116)3.14287458
125negative regulation of fatty acid biosynthetic process (GO:0045717)3.13624353
126cellular response to fatty acid (GO:0071398)3.13261944
127positive regulation of synaptic transmission, GABAergic (GO:0032230)3.12925669
128lipopolysaccharide biosynthetic process (GO:0009103)3.11358631
129hair follicle development (GO:0001942)3.08717664
130regulation of cilium movement (GO:0003352)3.08433640
131G1 DNA damage checkpoint (GO:0044783)3.08389058
132notochord development (GO:0030903)3.07913079
133oocyte maturation (GO:0001556)3.06671520
134branching involved in labyrinthine layer morphogenesis (GO:0060670)3.06349484
135mitotic chromosome condensation (GO:0007076)3.05948496
136iron ion import (GO:0097286)3.03420652
137regulation of cell cycle checkpoint (GO:1901976)3.03392285
138embryonic eye morphogenesis (GO:0048048)3.02480692
139DNA unwinding involved in DNA replication (GO:0006268)3.02414374
140DNA strand elongation involved in DNA replication (GO:0006271)3.02349247
141mitotic nuclear envelope disassembly (GO:0007077)3.02289194
142prenylation (GO:0097354)3.01922599
143protein prenylation (GO:0018342)3.01922599
144labyrinthine layer blood vessel development (GO:0060716)3.00738816
145regulation of respiratory system process (GO:0044065)2.99384666
146DNA integration (GO:0015074)2.99270245
147diterpenoid biosynthetic process (GO:0016102)2.98310519
148sex differentiation (GO:0007548)2.98172483
149L-phenylalanine metabolic process (GO:0006558)2.97703731
150erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)2.97703731
151modified amino acid transport (GO:0072337)2.97571005
152cellular protein complex localization (GO:0034629)2.97165050
153mitotic G1/S transition checkpoint (GO:0044819)2.95106477
154branching involved in salivary gland morphogenesis (GO:0060445)2.94821114
155embryonic placenta development (GO:0001892)2.94750548
156DNA strand elongation (GO:0022616)2.94518536
157DNA replication checkpoint (GO:0000076)2.93832441
158glucan catabolic process (GO:0009251)2.92854924
159DNA strand renaturation (GO:0000733)2.91971118
160cardiac left ventricle morphogenesis (GO:0003214)2.91084084
161acrosome reaction (GO:0007340)2.90824063
162regulation of amyloid precursor protein catabolic process (GO:1902991)2.89975483
163membrane disassembly (GO:0030397)2.88476211
164nuclear envelope disassembly (GO:0051081)2.88476211
165glycerol ether metabolic process (GO:0006662)2.87617294
166apoptotic process involved in development (GO:1902742)2.87052620
167nucleobase-containing small molecule interconversion (GO:0015949)2.86042443
168positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic proc2.86010562
169polysaccharide catabolic process (GO:0000272)2.85312905
170cellular response to ATP (GO:0071318)2.83345342
171morphogenesis of an epithelial sheet (GO:0002011)2.82961239
172response to laminar fluid shear stress (GO:0034616)2.82757847
173SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)2.79518438
174regulation of podosome assembly (GO:0071801)2.78407165
175mitochondrial RNA metabolic process (GO:0000959)2.77166963
176somatic recombination of immunoglobulin gene segments (GO:0016447)2.76544142
177negative regulation of potassium ion transmembrane transport (GO:1901380)2.76246899
178negative regulation of chondrocyte differentiation (GO:0032331)2.76127330
179positive regulation of p38MAPK cascade (GO:1900745)2.76025834
180regulation of translational fidelity (GO:0006450)2.75505974
181cilium movement (GO:0003341)2.75113700
182negative regulation of hydrogen peroxide-induced cell death (GO:1903206)2.74870517
183poly(A)+ mRNA export from nucleus (GO:0016973)2.74824137
184cellular response to glucagon stimulus (GO:0071377)2.74261746
185cellular response to sterol (GO:0036315)2.71446466
186anatomical structure regression (GO:0060033)2.71224028
187regulation of response to reactive oxygen species (GO:1901031)2.70445709
188cellular polysaccharide catabolic process (GO:0044247)2.70265094

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human8.76061547
2CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human4.61893854
3MYC_18555785_ChIP-Seq_MESCs_Mouse4.46574481
4BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse4.07261212
5ZFP281_18358816_ChIP-ChIP_MESCs_Mouse3.65282420
6FOXM1_23109430_ChIP-Seq_U2OS_Human3.61304192
7NANOG_18700969_ChIP-ChIP_MESCs_Mouse3.34541303
8E2F4_17652178_ChIP-ChIP_JURKAT_Human3.30580519
9ERG_21242973_ChIP-ChIP_JURKAT_Human3.02759804
10STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.99607935
11SMAD3_22036565_ChIP-Seq_ESCs_Mouse2.82191651
12MYC_19079543_ChIP-ChIP_MESCs_Mouse2.75887881
13SOX2_18358816_ChIP-ChIP_MESCs_Mouse2.69522437
14MYC_19030024_ChIP-ChIP_MESCs_Mouse2.66948991
15EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.56369277
16HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.55862355
17MYC_18358816_ChIP-ChIP_MESCs_Mouse2.50935086
18DCP1A_22483619_ChIP-Seq_HELA_Human2.42290520
19RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.38101365
20XRN2_22483619_ChIP-Seq_HELA_Human2.35784960
21POU5F1_16518401_ChIP-PET_MESCs_Mouse2.33458328
22EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.31633415
23FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.26097704
24THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.18782723
25TRIM28_21343339_ChIP-Seq_HEK293_Human2.17514167
26SMAD1_18555785_ChIP-Seq_MESCs_Mouse2.17439271
27LXR_22292898_ChIP-Seq_THP-1_Human2.08570478
28NACC1_18358816_ChIP-ChIP_MESCs_Mouse2.08299397
29KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.04214988
30JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.00919105
31AR_21909140_ChIP-Seq_LNCAP_Human2.00384007
32E2F1_21310950_ChIP-Seq_MCF-7_Human1.93975736
33KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.92389306
34TTF2_22483619_ChIP-Seq_HELA_Human1.87812207
35YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.84837487
36ZFP281_18757296_ChIP-ChIP_E14_Mouse1.83825714
37TP53_20018659_ChIP-ChIP_R1E_Mouse1.82479244
38KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.81072382
39KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.81072382
40KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.81072382
41NELFA_20434984_ChIP-Seq_ESCs_Mouse1.78874699
42POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.78502671
43MYC_22102868_ChIP-Seq_BL_Human1.72478955
44ETS1_20019798_ChIP-Seq_JURKAT_Human1.70726662
45EZH2_22144423_ChIP-Seq_EOC_Human1.70651919
46TCF3_18692474_ChIP-Seq_MESCs_Mouse1.69535969
47MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.69022690
48CREB1_15753290_ChIP-ChIP_HEK293T_Human1.68301006
49NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.66786913
50KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.62830839
51ZFX_18555785_ChIP-Seq_MESCs_Mouse1.62209175
52MYCN_18555785_ChIP-Seq_MESCs_Mouse1.60330753
53ZFP281_27345836_Chip-Seq_ESCs_Mouse1.59785848
54THAP11_20581084_ChIP-Seq_MESCs_Mouse1.59605953
55SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.59439129
56TCF3_18692474_ChIP-Seq_MEFs_Mouse1.59433092
57FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.58035530
58PU.1_20513432_ChIP-Seq_Bcells_Mouse1.56695802
59MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.56619776
60MYC_27129775_Chip-Seq_CORNEA_Mouse1.53741523
61HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.53243210
62ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.52758697
63E2F1_18555785_ChIP-Seq_MESCs_Mouse1.49378047
64NANOG_21062744_ChIP-ChIP_HESCs_Human1.48950250
65CLOCK_20551151_ChIP-Seq_293T_Human1.48410067
66CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.46868454
67NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.45038690
68TET1_21451524_ChIP-Seq_MESCs_Mouse1.44988834
69PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.44350542
70TFEB_21752829_ChIP-Seq_HELA_Human1.43751898
71PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.41800185
72CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.39915278
73RBPJ_22232070_ChIP-Seq_NCS_Mouse1.39824349
74CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.39262111
75DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.38309039
76PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.37185657
77NFIB_24661679_ChIP-Seq_LUNG_Mouse1.36742510
78ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.36467756
79FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.34321109
80KLF4_18555785_ChIP-Seq_MESCs_Mouse1.33890815
81SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.33732280
82KDM2B_26808549_Chip-Seq_SUP-B15_Human1.33204093
83KDM5A_27292631_Chip-Seq_BREAST_Human1.29698684
84TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.29492347
85RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.29105942
86FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.28765844
87ELK1_19687146_ChIP-ChIP_HELA_Human1.28386861
88ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.27462259
89RACK7_27058665_Chip-Seq_MCF-7_Human1.27149764
90RING1B_27294783_Chip-Seq_NPCs_Mouse1.26974520
91TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.26792007
92PRDM14_21183938_ChIP-Seq_MESCs_Mouse1.26376372
93CTCF_27219007_Chip-Seq_Bcells_Human1.25955679
94RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.25690396
95CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.25320905
96NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.24889615
97ZNF263_19887448_ChIP-Seq_K562_Human1.24407518
98SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.24219049
99SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.24185622
100RXRA_24833708_ChIP-Seq_LIVER_Mouse1.24043227
101MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.23613932
102CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.22664027
103EST1_17652178_ChIP-ChIP_JURKAT_Human1.22324145
104BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.21817488
105KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.21185598
106ESR2_21235772_ChIP-Seq_MCF-7_Human1.20381275
107TRIM28_19339689_ChIP-ChIP_MESCs_Mouse1.20177836
108PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.18512026
109RING1B_27294783_Chip-Seq_ESCs_Mouse1.17764777
110YY1_22570637_ChIP-Seq_MALME-3M_Human1.17444118
111E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.17175523
112GABP_17652178_ChIP-ChIP_JURKAT_Human1.16352684
113MYC_18940864_ChIP-ChIP_HL60_Human1.16162416
114ESR1_15608294_ChIP-ChIP_MCF-7_Human1.14484493
115NANOG_18692474_ChIP-Seq_MESCs_Mouse1.14348947
116PADI4_21655091_ChIP-ChIP_MCF-7_Human1.14107213
117SPI1_26923725_Chip-Seq_HPCs_Mouse1.13169683
118ETS1_21867929_ChIP-Seq_TH2_Mouse1.12688874
119FLI1_21867929_ChIP-Seq_CD8_Mouse1.12514858
120DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.12290711
121RARA_24833708_ChIP-Seq_LIVER_Mouse1.10912343
122BCOR_27268052_Chip-Seq_Bcells_Human1.09148244
123STAT3_1855785_ChIP-Seq_MESCs_Mouse1.08569739
124RARB_24833708_ChIP-Seq_LIVER_Mouse1.08499722
125VDR_21846776_ChIP-Seq_THP-1_Human1.08095221
126KDM2B_26808549_Chip-Seq_K562_Human1.07186040
127CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.06931215
128RXR_22158963_ChIP-Seq_LIVER_Mouse1.05986955
129GABP_19822575_ChIP-Seq_HepG2_Human1.05673961
130RNF2_27304074_Chip-Seq_ESCs_Mouse1.05099826
131POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.04829572
132ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.04510445
133SMC4_20622854_ChIP-Seq_HELA_Human1.04031536
134KDM2B_26808549_Chip-Seq_DND41_Human1.03578889
135SETDB1_19884255_ChIP-Seq_MESCs_Mouse1.03131249
136ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.02738770
137FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.01990413
138CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.01784517
139ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.01487260
140P300_27058665_Chip-Seq_ZR-75-30cells_Human1.01291935
141NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.01001350
142TET1_21490601_ChIP-Seq_MESCs_Mouse1.00520120
143NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.00179312
144E2F1_20622854_ChIP-Seq_HELA_Human0.99544770
145NOTCH1_21737748_ChIP-Seq_TLL_Human0.98494827
146FOXP3_21729870_ChIP-Seq_TREG_Human0.98109464
147PHF8_20622854_ChIP-Seq_HELA_Human0.98076958
148POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.98028816
149SUZ12_27294783_Chip-Seq_ESCs_Mouse0.97309091
150FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.96904266
151NANOG_18692474_ChIP-Seq_MEFs_Mouse0.96610088
152EGR1_19374776_ChIP-ChIP_THP-1_Human0.96576663
153CTCF_27219007_Chip-Seq_ERYTHROID_Human0.96162543
154TP53_23651856_ChIP-Seq_MEFs_Mouse0.95961410
155NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.95168897
156TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.95068617
157REST_21632747_ChIP-Seq_MESCs_Mouse0.94916362
158RAD21_21589869_ChIP-Seq_MESCs_Mouse0.94771914
159GATA1_26923725_Chip-Seq_HPCs_Mouse0.93825396
160EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.93806105
161YY1_21170310_ChIP-Seq_MESCs_Mouse0.93555883
162CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.93500633
163UBF1/2_26484160_Chip-Seq_HMECs_Human0.93066931
164CTCF_26484167_Chip-Seq_Bcells_Mouse0.92680471
165CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.91029448
166NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.91013765
167SA1_27219007_Chip-Seq_ERYTHROID_Human0.90273661
168VDR_23849224_ChIP-Seq_CD4+_Human0.89623398
169TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.89426869
170EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.89337691
171NANOG_16518401_ChIP-PET_MESCs_Mouse0.89256984
172CHD1_26751641_Chip-Seq_LNCaP_Human0.88947761
173SOX2_18692474_ChIP-Seq_MEFs_Mouse0.88423117
174SOX2_18692474_ChIP-Seq_MESCs_Mouse0.88310052
175SOX17_20123909_ChIP-Seq_XEN_Mouse0.88005354
176KDM2B_26808549_Chip-Seq_JURKAT_Human0.87976392
177MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.87335603
178STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.86916892
179POU5F1_18692474_ChIP-Seq_MESCs_Mouse0.86775427
180REST_18959480_ChIP-ChIP_MESCs_Mouse0.86760535
181NANOG_18555785_ChIP-Seq_MESCs_Mouse0.85235997
182SRY_22984422_ChIP-ChIP_TESTIS_Rat0.84956910
183KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.84502376
184STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.83731512
185KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.82865385

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005083_abnormal_biliary_tract5.31016359
2MP0008058_abnormal_DNA_repair4.47871063
3MP0000013_abnormal_adipose_tissue3.87148776
4MP0005410_abnormal_fertilization3.67247208
5MP0004233_abnormal_muscle_weight3.53995681
6MP0010030_abnormal_orbit_morphology3.50380907
7MP0005171_absent_coat_pigmentation3.34340818
8MP0008057_abnormal_DNA_replication3.28704352
9MP0010094_abnormal_chromosome_stability3.25157427
10MP0003329_amyloid_beta_deposits3.18305793
11MP0003693_abnormal_embryo_hatching3.07230630
12MP0004957_abnormal_blastocyst_morpholog3.04710017
13MP0003705_abnormal_hypodermis_morpholog3.02681502
14MP0000003_abnormal_adipose_tissue3.02355087
15MP0003077_abnormal_cell_cycle3.01517775
16MP0005248_abnormal_Harderian_gland2.86647648
17MP0004808_abnormal_hematopoietic_stem2.80048650
18MP0001348_abnormal_lacrimal_gland2.62710955
19MP0002009_preneoplasia2.49662609
20MP0009278_abnormal_bone_marrow2.48663338
21MP0003111_abnormal_nucleus_morphology2.47539956
22MP0005623_abnormal_meninges_morphology2.44439670
23MP0005645_abnormal_hypothalamus_physiol2.41385179
24MP0006072_abnormal_retinal_apoptosis2.39415046
25MP0010234_abnormal_vibrissa_follicle2.31311679
26MP0005076_abnormal_cell_differentiation2.28727960
27MP0004858_abnormal_nervous_system2.26044581
28MP0002282_abnormal_trachea_morphology2.15949989
29MP0002249_abnormal_larynx_morphology2.14070991
30MP0003879_abnormal_hair_cell2.06951971
31MP0000462_abnormal_digestive_system2.04357012
32MP0008932_abnormal_embryonic_tissue2.03109564
33MP0002653_abnormal_ependyma_morphology1.96994586
34MP0000490_abnormal_crypts_of1.94368034
35MP0009840_abnormal_foam_cell1.92985215
36MP0003942_abnormal_urinary_system1.90003885
37MP0010352_gastrointestinal_tract_polyps1.82685405
38MP0000026_abnormal_inner_ear1.80570397
39MP0002877_abnormal_melanocyte_morpholog1.77765552
40MP0000579_abnormal_nail_morphology1.75719329
41MP0001963_abnormal_hearing_physiology1.68866136
42MP0003119_abnormal_digestive_system1.66765137
43MP0001485_abnormal_pinna_reflex1.65488751
44MP0004133_heterotaxia1.64616797
45MP0003786_premature_aging1.64008213
46MP0000604_amyloidosis1.63843439
47MP0001661_extended_life_span1.62164448
48MP0002697_abnormal_eye_size1.62006654
49MP0003698_abnormal_male_reproductive1.58260515
50MP0003283_abnormal_digestive_organ1.58236868
51MP0002396_abnormal_hematopoietic_system1.56038654
52MP0010307_abnormal_tumor_latency1.52867129
53MP0008877_abnormal_DNA_methylation1.49457139
54MP0005253_abnormal_eye_physiology1.47403611
55MP0001929_abnormal_gametogenesis1.38046738
56MP0005451_abnormal_body_composition1.37826250
57MP0003453_abnormal_keratinocyte_physiol1.34466340
58MP0003984_embryonic_growth_retardation1.33663200
59MP0000350_abnormal_cell_proliferation1.32376634
60MP0001853_heart_inflammation1.31849797
61MP0003279_aneurysm1.31025936
62MP0000733_abnormal_muscle_development1.30285829
63MP0002088_abnormal_embryonic_growth/wei1.29856657
64MP0005220_abnormal_exocrine_pancreas1.29569095
65MP0000751_myopathy1.28830915
66MP0001672_abnormal_embryogenesis/_devel1.27051176
67MP0005380_embryogenesis_phenotype1.27051176
68MP0003690_abnormal_glial_cell1.24953125
69MP0005375_adipose_tissue_phenotype1.24186555
70MP0001340_abnormal_eyelid_morphology1.22391011
71MP0000639_abnormal_adrenal_gland1.21916686
72MP0005195_abnormal_posterior_eye1.21228601
73MP0000049_abnormal_middle_ear1.20692529
74MP0002938_white_spotting1.19577644
75MP0004859_abnormal_synaptic_plasticity1.18811871
76MP0003937_abnormal_limbs/digits/tail_de1.17901229
77MP0003634_abnormal_glial_cell1.17836791
78MP0003632_abnormal_nervous_system1.16911927
79MP0001502_abnormal_circadian_rhythm1.16535140
80MP0009250_abnormal_appendicular_skeleto1.15890437
81MP0003890_abnormal_embryonic-extraembry1.15384467
82MP0002080_prenatal_lethality1.15124578
83MP0003718_maternal_effect1.14253727
84MP0000534_abnormal_ureter_morphology1.13639766
85MP0000537_abnormal_urethra_morphology1.13378507
86MP0003878_abnormal_ear_physiology1.10359134
87MP0005377_hearing/vestibular/ear_phenot1.10359134
88MP0000566_synostosis1.10239436
89MP0005365_abnormal_bile_salt1.09453007
90MP0001145_abnormal_male_reproductive1.06761420
91MP0002161_abnormal_fertility/fecundity1.06333556
92MP0002254_reproductive_system_inflammat1.04369475
93MP0001697_abnormal_embryo_size1.03842609
94MP0002269_muscular_atrophy0.99968449
95MP0000762_abnormal_tongue_morphology0.99910375
96MP0005058_abnormal_lysosome_morphology0.98547653
97MP0008007_abnormal_cellular_replicative0.97530247
98MP0002116_abnormal_craniofacial_bone0.97188845
99MP0003075_altered_response_to0.96168491
100MP0005391_vision/eye_phenotype0.95438638
101MP0002084_abnormal_developmental_patter0.94636860
102MP0003806_abnormal_nucleotide_metabolis0.94513568
103MP0001730_embryonic_growth_arrest0.94438565
104MP0003137_abnormal_impulse_conducting0.93792366
105MP0004134_abnormal_chest_morphology0.93731744
106MP0000759_abnormal_skeletal_muscle0.93303637
107MP0002092_abnormal_eye_morphology0.93121028
108MP0006035_abnormal_mitochondrial_morpho0.93008402
109MP0000358_abnormal_cell_content/0.93002562
110MP0003638_abnormal_response/metabolism_0.92028771
111MP0002210_abnormal_sex_determination0.91700041
112MP0005085_abnormal_gallbladder_physiolo0.91274975
113MP0000653_abnormal_sex_gland0.90569374
114MP0001293_anophthalmia0.90450685
115MP0006138_congestive_heart_failure0.89232922
116MP0002086_abnormal_extraembryonic_tissu0.88096788
117MP0001324_abnormal_eye_pigmentation0.87450686
118MP0000313_abnormal_cell_death0.87125643
119MP0009672_abnormal_birth_weight0.86893513
120MP0002932_abnormal_joint_morphology0.85692356
121MP0003941_abnormal_skin_development0.85269626
122MP0003959_abnormal_lean_body0.85062562
123MP0001346_abnormal_lacrimal_gland0.84272198
124MP0004885_abnormal_endolymph0.84071252
125MP0003011_delayed_dark_adaptation0.83952498
126MP0002111_abnormal_tail_morphology0.83842567
127MP0005423_abnormal_somatic_nervous0.83508308
128MP0002085_abnormal_embryonic_tissue0.82984432
129MP0001286_abnormal_eye_development0.82586675
130MP0003115_abnormal_respiratory_system0.81348753
131MP0008995_early_reproductive_senescence0.80777137
132MP0002796_impaired_skin_barrier0.80686991
133MP0000428_abnormal_craniofacial_morphol0.80422021
134MP0000750_abnormal_muscle_regeneration0.78895058
135MP0003699_abnormal_female_reproductive0.78651094
136MP0009053_abnormal_anal_canal0.78369567
137MP0003385_abnormal_body_wall0.78092100
138MP0009697_abnormal_copulation0.77950373
139MP0002132_abnormal_respiratory_system0.77923005
140MP0008775_abnormal_heart_ventricle0.77897148
141MP0002882_abnormal_neuron_morphology0.77553354
142MP0002752_abnormal_somatic_nervous0.77092987
143MP0000747_muscle_weakness0.77033738
144MP0005501_abnormal_skin_physiology0.76719196
145MP0005670_abnormal_white_adipose0.76616722
146MP0005197_abnormal_uvea_morphology0.76598403
147MP0002166_altered_tumor_susceptibility0.76130081
148MP0002233_abnormal_nose_morphology0.75967153
149MP0001943_abnormal_respiration0.75618456
150MP0000647_abnormal_sebaceous_gland0.75396690
151MP0005647_abnormal_sex_gland0.74762401
152MP0005508_abnormal_skeleton_morphology0.74203402
153MP0004087_abnormal_muscle_fiber0.72996165
154MP0009115_abnormal_fat_cell0.72805639
155MP0000955_abnormal_spinal_cord0.72430907
156MP0000432_abnormal_head_morphology0.72390561
157MP0004019_abnormal_vitamin_homeostasis0.72332466
158MP0002114_abnormal_axial_skeleton0.72051276
159MP0002184_abnormal_innervation0.71859022
160MP0004130_abnormal_muscle_cell0.71426609
161MP0002060_abnormal_skin_morphology0.70802805
162MP0001849_ear_inflammation0.68755202
163MP0005646_abnormal_pituitary_gland0.68525530
164MP0001545_abnormal_hematopoietic_system0.67625833
165MP0005397_hematopoietic_system_phenotyp0.67625833
166MP0010630_abnormal_cardiac_muscle0.65770211
167MP0010678_abnormal_skin_adnexa0.65005033
168MP0005334_abnormal_fat_pad0.63733456
169MP0004197_abnormal_fetal_growth/weight/0.63478533
170MP0002160_abnormal_reproductive_system0.60495916
171MP0002019_abnormal_tumor_incidence0.59361365
172MP0009703_decreased_birth_body0.59332963

Predicted human phenotypes

RankGene SetZ-score
1Calcaneovalgus deformity (HP:0001848)7.53078006
2Deformed tarsal bones (HP:0008119)6.66513748
3Cerebellar dysplasia (HP:0007033)5.00904373
4Abnormality of glutamine family amino acid metabolism (HP:0010902)4.94115813
5Abnormality of the calcaneus (HP:0008364)4.78255488
6Aplasia/Hypoplasia of the pubic bone (HP:0009104)4.39210828
7Alkalosis (HP:0001948)4.33849538
8Megalencephaly (HP:0001355)4.29806665
9Arterial tortuosity (HP:0005116)4.29384549
10Microvesicular hepatic steatosis (HP:0001414)4.20198218
11Concave nail (HP:0001598)4.14919195
12Abnormality of alanine metabolism (HP:0010916)4.06050759
13Hyperalaninemia (HP:0003348)4.06050759
14Abnormality of pyruvate family amino acid metabolism (HP:0010915)4.06050759
15Vitreoretinal degeneration (HP:0000655)3.97531214
16Sparse lateral eyebrow (HP:0005338)3.90484266
17Male infertility (HP:0003251)3.80130860
18Clumsiness (HP:0002312)3.78525959
19Aplasia/Hypoplasia involving the carpal bones (HP:0006502)3.77308406
20Turricephaly (HP:0000262)3.76951985
21Rib fusion (HP:0000902)3.76283392
22Epiphyseal dysplasia (HP:0002656)3.72226267
23Vascular tortuosity (HP:0004948)3.70242363
24Annular pancreas (HP:0001734)3.65066500
25Abnormal respiratory epithelium morphology (HP:0012253)3.64185413
26Abnormal respiratory motile cilium morphology (HP:0005938)3.64185413
27Progressive muscle weakness (HP:0003323)3.56289570
28Cerebral edema (HP:0002181)3.55970595
29Alopecia of scalp (HP:0002293)3.53143103
30Ulnar bowing (HP:0003031)3.37290563
31Coronal craniosynostosis (HP:0004440)3.36033673
32Poikiloderma (HP:0001029)3.17184560
33Ragged-red muscle fibers (HP:0003200)3.12391577
34Vaginal fistula (HP:0004320)3.04340469
35Posterior subcapsular cataract (HP:0007787)3.02316089
36Oligodactyly (hands) (HP:0001180)3.00478926
37Abnormality of monocarboxylic acid metabolism (HP:0010996)2.98832320
38Facial hemangioma (HP:0000329)2.93123166
39Abnormality of pyrimidine metabolism (HP:0004353)2.91789311
40Dynein arm defect of respiratory motile cilia (HP:0012255)2.86478640
41Absent/shortened dynein arms (HP:0200106)2.86478640
42Pterygium (HP:0001059)2.85183589
43Narrow nasal bridge (HP:0000446)2.84221518
44Alacrima (HP:0000522)2.76039232
45Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)2.74522611
46Retinal atrophy (HP:0001105)2.73257421
47Dysmetric saccades (HP:0000641)2.72065632
48Hyperammonemia (HP:0001987)2.70035249
49Vertebral hypoplasia (HP:0008417)2.68192919
50Aplasia/Hypoplasia of the vertebrae (HP:0008515)2.68192919
51Elbow flexion contracture (HP:0002987)2.67746218
52Fetal akinesia sequence (HP:0001989)2.66999978
53Thin ribs (HP:0000883)2.66995777
54Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.66532662
55Hypotrichosis (HP:0001006)2.65690110
56Chorioretinal atrophy (HP:0000533)2.64399663
57Bowed forearm bones (HP:0003956)2.63889683
58Bowing of the arm (HP:0006488)2.63889683
59Large for gestational age (HP:0001520)2.63663927
60Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)2.62641971
61Rectovaginal fistula (HP:0000143)2.60436437
62Rectal fistula (HP:0100590)2.60436437
63Abnormal number of incisors (HP:0011064)2.58737258
64Infertility (HP:0000789)2.57024843
65White forelock (HP:0002211)2.56379729
66Abnormality of the nasal septum (HP:0000419)2.55908649
67Abnormality of placental membranes (HP:0011409)2.54319740
68Amniotic constriction ring (HP:0009775)2.54319740
69Submucous cleft hard palate (HP:0000176)2.53229658
70Hypoplastic ischia (HP:0003175)2.52770649
71Short humerus (HP:0005792)2.52555139
72Aplasia involving forearm bones (HP:0009822)2.50043532
73Absent forearm bone (HP:0003953)2.50043532
74Hypoplastic pelvis (HP:0008839)2.44463396
75Hypotelorism (HP:0000601)2.44396297
76Neurofibrillary tangles (HP:0002185)2.43979713
77Glossoptosis (HP:0000162)2.41834152
78Aplasia/Hypoplasia of the sacrum (HP:0008517)2.41608047
79Abnormality of the pubic bones (HP:0003172)2.40771779
80Pustule (HP:0200039)2.40527579
81Abnormality of the aortic arch (HP:0012303)2.40493999
82Deep philtrum (HP:0002002)2.40466900
83Hemivertebrae (HP:0002937)2.40252422
84Birth length less than 3rd percentile (HP:0003561)2.36685669
85Aplasia/Hypoplasia of the 5th finger (HP:0006262)2.35887991
86Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)2.33997407
87Abnormality of aromatic amino acid family metabolism (HP:0004338)2.32904330
88Oligodactyly (HP:0012165)2.32216892
89Choanal stenosis (HP:0000452)2.30058660
90Biconcave vertebral bodies (HP:0004586)2.28876953
91Prominent nose (HP:0000448)2.28264077
92Increased number of teeth (HP:0011069)2.28117321
93Congenital hip dislocation (HP:0001374)2.27690379
94Urinary glycosaminoglycan excretion (HP:0003541)2.26724187
95Mucopolysacchariduria (HP:0008155)2.26724187
96Vertebral compression fractures (HP:0002953)2.26534195
97Myocardial infarction (HP:0001658)2.26109298
98Aplasia/hypoplasia of the humerus (HP:0006507)2.25418198
99Broad alveolar ridges (HP:0000187)2.23992025
100Decreased lacrimation (HP:0000633)2.22627860
101Patchy hypopigmentation of hair (HP:0011365)2.20782956
102Abnormality of the middle phalanx of the 5th finger (HP:0004219)2.20157633
103Intestinal fistula (HP:0100819)2.19725050
104Abnormality of the phalanges of the 2nd finger (HP:0009541)2.19540454
105Short chin (HP:0000331)2.18721633
106Popliteal pterygium (HP:0009756)2.18177864
107Increased IgM level (HP:0003496)2.15851133
108Achilles tendon contracture (HP:0001771)2.15610377
109Chromosomal breakage induced by crosslinking agents (HP:0003221)2.15605805
110Premature skin wrinkling (HP:0100678)2.15078491
111Abnormality of the ischium (HP:0003174)2.13945811
112Partial agenesis of the corpus callosum (HP:0001338)2.11874681
113Subcapsular cataract (HP:0000523)2.11846287
114Abnormal hemoglobin (HP:0011902)2.09147206
115Mild short stature (HP:0003502)2.09011857
116Anteriorly placed anus (HP:0001545)2.07662064
117Nasal speech (HP:0001611)2.07513813
118Increased corneal curvature (HP:0100692)2.07138811
119Keratoconus (HP:0000563)2.07138811
120Aplasia of the musculature (HP:0100854)2.06970643
121Rhinitis (HP:0012384)2.05661413
122Abnormality of the vitreous humor (HP:0004327)2.05246066
123Absent epiphyses (HP:0010577)2.05128935
124Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.05128935
125Abnormality of serum amino acid levels (HP:0003112)2.04614192
126Amblyopia (HP:0000646)2.04311474
127Dysostosis multiplex (HP:0000943)2.04280761
128Proximal placement of thumb (HP:0009623)2.04279749
129Severe Myopia (HP:0011003)2.01840658
130Cerebral inclusion bodies (HP:0100314)2.01688616
131Pulmonary artery stenosis (HP:0004415)2.00728898
132Abnormality of glycolysis (HP:0004366)2.00607663
133Bifid uvula (HP:0000193)2.00321568
134Abnormality of the phalanges of the 5th finger (HP:0004213)1.98639746
135Bell-shaped thorax (HP:0001591)1.97205143
136Fibular hypoplasia (HP:0003038)1.97135861
137Adactyly (HP:0009776)1.96979453
138Termporal pattern (HP:0011008)1.96898671
139Insidious onset (HP:0003587)1.96898671
140Progressive neurologic deterioration (HP:0002344)1.95304171
141Exercise-induced myalgia (HP:0003738)1.95142677
142Stroke (HP:0001297)1.94633195
143Hypochromic microcytic anemia (HP:0004840)1.93029381
144Ketoacidosis (HP:0001993)1.92709848
145Knee flexion contracture (HP:0006380)1.92309337
146Ankyloglossia (HP:0010296)1.92074779
147Renal duplication (HP:0000075)1.91764584
148Asymmetry of the thorax (HP:0001555)1.91677097
149Abnormality of mucopolysaccharide metabolism (HP:0011020)1.91591664
150Abnormality of polysaccharide metabolism (HP:0011012)1.91591664
151Abnormality of glycosaminoglycan metabolism (HP:0004371)1.91591664
152Round face (HP:0000311)1.91443679
153Abnormalities of placenta or umbilical cord (HP:0001194)1.90808945
154Deviation of the thumb (HP:0009603)1.90664994
155Reticulocytopenia (HP:0001896)1.90576438
156Humeroradial synostosis (HP:0003041)1.90274770
157Synostosis involving the elbow (HP:0003938)1.90274770
158Asymmetric septal hypertrophy (HP:0001670)1.89522204
159Increased serum pyruvate (HP:0003542)1.88700899
160Breast hypoplasia (HP:0003187)1.88246395
161Patellar aplasia (HP:0006443)1.88130535
162Abnormality of homocysteine metabolism (HP:0010919)1.87715478
163Homocystinuria (HP:0002156)1.87715478
164Aplasia/Hypoplasia involving the musculature (HP:0001460)1.87608393
165Median cleft lip (HP:0000161)1.87290665
166Bulbous nose (HP:0000414)1.86640098
167Abnormal respiratory motile cilium physiology (HP:0012261)1.86057910
168Abnormality of pain sensation (HP:0010832)1.86029838
169Impaired pain sensation (HP:0007328)1.86029838
170Chromsome breakage (HP:0040012)1.85092516
171Adducted thumb (HP:0001181)1.85031469
172Dysautonomia (HP:0002459)1.84884814
173Abnormality of the Achilles tendon (HP:0005109)1.82271940
174Cutaneous melanoma (HP:0012056)1.79443136
175Squamous cell carcinoma (HP:0002860)1.79131231
176Flared metaphyses (HP:0003015)1.79076606
177Fair hair (HP:0002286)1.77071391
178Abnormality of the periventricular white matter (HP:0002518)1.76931083
179Spinal cord lesions (HP:0100561)1.75398293
180Syringomyelia (HP:0003396)1.75398293
181Short palpebral fissure (HP:0012745)1.72516150
182Increased circulating renin level (HP:0000848)1.72030938
183Selective tooth agenesis (HP:0001592)1.70557714
184Abnormality of DNA repair (HP:0003254)1.67660219
185Thickened helices (HP:0000391)1.67215226
186Abnormal auditory evoked potentials (HP:0006958)1.66859094
187Hypobetalipoproteinemia (HP:0003563)1.66169902
188Natal tooth (HP:0000695)1.65232649
189Spastic paraplegia (HP:0001258)1.65209766
190Abnormality of the 2nd finger (HP:0004100)1.64128392

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR26.14546784
2ICK4.71292112
3FGR3.70653989
4LMTK23.65263309
5MAPK153.58789132
6MST1R3.21263552
7EEF2K3.16701058
8PDK33.11478326
9PDK43.11478326
10TSSK63.03444744
11MAP3K62.98315921
12PHKG12.91228408
13PHKG22.91228408
14PRKD32.70710935
15PINK12.58217653
16PBK2.53610798
17NME22.52031202
18BMX2.44048235
19TYRO32.33592084
20PRPF4B2.20107085
21MAP3K112.12887936
22NEK62.11992109
23CDK122.04116549
24WNK41.93173704
25PDK21.84769316
26PRKD21.82285313
27MATK1.81025955
28DYRK1B1.76481899
29TRIB31.74758232
30SRPK11.71790151
31NTRK21.70910710
32TTK1.67438683
33UHMK11.61923911
34NEK11.61610968
35SIK11.61284513
36BRD41.59492594
37CDC71.55615354
38MKNK11.51244169
39TAOK21.50725726
40PDGFRA1.43611978
41DAPK11.40459347
42RPS6KB21.37896483
43OXSR11.35040331
44TLK11.31414912
45TRPM71.28073884
46LATS21.27283598
47BRSK21.26580008
48IRAK11.19717941
49CSK1.18290528
50CDK61.17167982
51ZAK1.15404158
52PIM21.14613757
53YES11.14571689
54BCKDK1.12952963
55IRAK21.12797002
56BMPR21.08748506
57TESK11.07890251
58STK381.07195445
59MET1.04836622
60WEE11.03716671
61BUB10.97481394
62EIF2AK10.97068195
63AURKB0.95678523
64PKN20.93743285
65CCNB10.90929661
66ATR0.75517111
67PTK2B0.74812109
68PDPK10.74190838
69NME10.73521203
70MAPK120.71621687
71RAF10.71334284
72MAP3K90.70993407
73AURKA0.69739478
74PIM10.68891042
75AKT30.68687831
76MAP2K20.67879375
77LATS10.67342337
78CDC42BPA0.67236886
79CDK70.66853935
80SMG10.65709338
81BRSK10.65224925
82CHEK10.65075482
83MAPKAPK50.62381244
84GSK3A0.62279495
85IRAK30.61607891
86STK160.60698970
87TGFBR20.54948431
88ACVR1B0.53740218
89NEK20.51357737
90EIF2AK30.51023284
91RIPK10.50980157
92CDK20.50820678
93HIPK20.50364809
94PAK40.48422834
95MAPK110.48125135
96CDK40.47125575
97AKT20.46933895
98MKNK20.46866663
99STK110.46408470
100RPS6KA50.46085421
101CSNK1G10.44120959
102DYRK30.43837854
103CDK10.43409152
104TTN0.42634540
105EPHA40.40536214
106SCYL20.40321535
107CHEK20.40194739
108CDK80.40026961
109EPHB10.39982237
110ALK0.39500939
111CSNK1E0.39087585
112PDGFRB0.38989733
113STK30.38242003
114RPS6KC10.38069493
115RPS6KL10.38069493
116RPS6KA10.37740255
117PLK30.37467204
118GRK60.37247237
119FLT30.36868311
120PRKAA10.36297015
121PDK10.35259289
122MAP3K100.35169409
123MAPK100.34971895
124CAMKK20.33742970
125EGFR0.33734321
126PTK20.33548260
127RPS6KA60.33351817
128CDK50.31249971
129EPHA30.30919486
130CAMK2A0.30240618
131MAPK70.30160465
132ATM0.29682512
133CAMK2B0.28120801
134ERBB30.28083330
135STK38L0.27985779
136TGFBR10.27647349
137GSK3B0.27352946
138MAPK140.26688921
139RPS6KB10.25612769
140ERBB40.25394683
141CSNK1A1L0.23976311
142PAK20.23320099
143SGK10.23068468
144MAPK40.22924646
145MTOR0.22029759
146AKT10.21969079
147PLK40.21899299
148MAP2K10.21534916
149PASK0.20144135
150CSNK2A20.20135575
151PRKCZ0.19613818
152PRKDC0.19276972
153FGFR10.19144967
154DYRK20.19128653
155PAK60.18991510
156CDK150.18391978
157CAMK2G0.16533418
158STK390.15799926
159SGK4940.14916399
160SGK2230.14916399
161CSNK1G30.14639790
162CDK180.13943755
163CDK11A0.13876878
164PLK10.13007177
165MAPK10.12493140
166LYN0.12481018
167INSR0.11907243
168RET0.11659487
169CDK140.11560296
170ABL10.11490035
171CAMK2D0.10921474
172NTRK10.10772932
173SGK30.10014452

Predicted pathways (KEGG)

RankGene SetZ-score
1Fatty acid biosynthesis_Homo sapiens_hsa000618.10400765
2Fatty acid metabolism_Homo sapiens_hsa012123.51320114
3Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001303.21960177
4Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.04020771
5Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.93775743
6Non-homologous end-joining_Homo sapiens_hsa034502.81395821
7Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.55179316
8Base excision repair_Homo sapiens_hsa034102.44136953
9Basal cell carcinoma_Homo sapiens_hsa052172.41189953
10Hedgehog signaling pathway_Homo sapiens_hsa043402.34790173
11RNA transport_Homo sapiens_hsa030132.33892211
12Hippo signaling pathway_Homo sapiens_hsa043902.18182292
13Propanoate metabolism_Homo sapiens_hsa006402.08301627
14Mismatch repair_Homo sapiens_hsa034302.07934550
15Circadian rhythm_Homo sapiens_hsa047102.03930104
16Spliceosome_Homo sapiens_hsa030402.03012358
17Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.01008043
18Biosynthesis of amino acids_Homo sapiens_hsa012301.98564100
19Fatty acid degradation_Homo sapiens_hsa000711.97233194
20Ribosome_Homo sapiens_hsa030101.95291059
21Cell cycle_Homo sapiens_hsa041101.86850181
22Wnt signaling pathway_Homo sapiens_hsa043101.84691253
23Arginine and proline metabolism_Homo sapiens_hsa003301.81469429
24Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.77074450
25Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.69576621
26Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.67917043
27Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.65963815
28Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.58549493
29Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.53832776
30Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.51516230
31Purine metabolism_Homo sapiens_hsa002301.42656317
32Small cell lung cancer_Homo sapiens_hsa052221.42236718
33Systemic lupus erythematosus_Homo sapiens_hsa053221.35576496
34Notch signaling pathway_Homo sapiens_hsa043301.32206873
35Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.30335029
36RNA degradation_Homo sapiens_hsa030181.29562728
37Fructose and mannose metabolism_Homo sapiens_hsa000511.28168629
38Pyrimidine metabolism_Homo sapiens_hsa002401.26044521
39Fatty acid elongation_Homo sapiens_hsa000621.25285135
40beta-Alanine metabolism_Homo sapiens_hsa004101.24675545
41Sulfur relay system_Homo sapiens_hsa041221.23356587
42PPAR signaling pathway_Homo sapiens_hsa033201.15728992
43mTOR signaling pathway_Homo sapiens_hsa041501.14210583
44Nitrogen metabolism_Homo sapiens_hsa009101.12444566
45Alcoholism_Homo sapiens_hsa050341.09871702
46alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.05533624
47Homologous recombination_Homo sapiens_hsa034401.05201714
48VEGF signaling pathway_Homo sapiens_hsa043701.05063335
49Glucagon signaling pathway_Homo sapiens_hsa049221.02310667
50Lysine degradation_Homo sapiens_hsa003101.02273864
51Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.00904173
52RNA polymerase_Homo sapiens_hsa030201.00799833
53Pyruvate metabolism_Homo sapiens_hsa006200.94510175
54Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.90334629
55Sulfur metabolism_Homo sapiens_hsa009200.89107167
56Butanoate metabolism_Homo sapiens_hsa006500.88810112
57One carbon pool by folate_Homo sapiens_hsa006700.88687274
58Adherens junction_Homo sapiens_hsa045200.85679175
59DNA replication_Homo sapiens_hsa030300.85498049
60Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.82841103
61TGF-beta signaling pathway_Homo sapiens_hsa043500.78446116
62Pentose and glucuronate interconversions_Homo sapiens_hsa000400.76438157
63Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.71736114
64Melanogenesis_Homo sapiens_hsa049160.69972706
65Longevity regulating pathway - mammal_Homo sapiens_hsa042110.69303056
66Oocyte meiosis_Homo sapiens_hsa041140.68969841
67Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.67735014
68Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.67461381
69Bladder cancer_Homo sapiens_hsa052190.65031070
70Carbon metabolism_Homo sapiens_hsa012000.64055782
71Cysteine and methionine metabolism_Homo sapiens_hsa002700.63937257
72Viral carcinogenesis_Homo sapiens_hsa052030.63803450
73Colorectal cancer_Homo sapiens_hsa052100.62847645
74Dorso-ventral axis formation_Homo sapiens_hsa043200.62478507
75Phenylalanine metabolism_Homo sapiens_hsa003600.60291264
76Ether lipid metabolism_Homo sapiens_hsa005650.60185365
77Linoleic acid metabolism_Homo sapiens_hsa005910.60175494
78Glycerolipid metabolism_Homo sapiens_hsa005610.60003463
79Arginine biosynthesis_Homo sapiens_hsa002200.57325811
80N-Glycan biosynthesis_Homo sapiens_hsa005100.56653697
81Thyroid cancer_Homo sapiens_hsa052160.56037187
82Tight junction_Homo sapiens_hsa045300.55755993
83Histidine metabolism_Homo sapiens_hsa003400.55485018
84MicroRNAs in cancer_Homo sapiens_hsa052060.55281600
85Starch and sucrose metabolism_Homo sapiens_hsa005000.54208454
86Basal transcription factors_Homo sapiens_hsa030220.53994475
87Proteoglycans in cancer_Homo sapiens_hsa052050.51237504
88Glycerophospholipid metabolism_Homo sapiens_hsa005640.49611209
89Mineral absorption_Homo sapiens_hsa049780.49024013
90Selenocompound metabolism_Homo sapiens_hsa004500.47690221
91Protein digestion and absorption_Homo sapiens_hsa049740.46883370
92Glycosaminoglycan degradation_Homo sapiens_hsa005310.45839809
93Vitamin B6 metabolism_Homo sapiens_hsa007500.45179881
94Choline metabolism in cancer_Homo sapiens_hsa052310.44927184
95Tyrosine metabolism_Homo sapiens_hsa003500.44294869
96Peroxisome_Homo sapiens_hsa041460.43994546
97p53 signaling pathway_Homo sapiens_hsa041150.43656975
98Axon guidance_Homo sapiens_hsa043600.43245549
99Amphetamine addiction_Homo sapiens_hsa050310.43208069
100Transcriptional misregulation in cancer_Homo sapiens_hsa052020.43055417
101ErbB signaling pathway_Homo sapiens_hsa040120.42702754
102Pentose phosphate pathway_Homo sapiens_hsa000300.42691741
103Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.42331769
104Gap junction_Homo sapiens_hsa045400.41870194
105Galactose metabolism_Homo sapiens_hsa000520.41563510
106Thyroid hormone signaling pathway_Homo sapiens_hsa049190.40840143
107Fanconi anemia pathway_Homo sapiens_hsa034600.40489508
108Adipocytokine signaling pathway_Homo sapiens_hsa049200.39969454
109HTLV-I infection_Homo sapiens_hsa051660.38579041
110Nucleotide excision repair_Homo sapiens_hsa034200.37275932
111Morphine addiction_Homo sapiens_hsa050320.37151475
112Central carbon metabolism in cancer_Homo sapiens_hsa052300.37024771
1132-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.36694139
114Ovarian steroidogenesis_Homo sapiens_hsa049130.36599213
115Renin-angiotensin system_Homo sapiens_hsa046140.35132314
116Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.34941805
117Chronic myeloid leukemia_Homo sapiens_hsa052200.34150165
118Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.32765772
119Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.32525664
120Focal adhesion_Homo sapiens_hsa045100.32016961
121Estrogen signaling pathway_Homo sapiens_hsa049150.31803163
122Insulin signaling pathway_Homo sapiens_hsa049100.31464792
123FoxO signaling pathway_Homo sapiens_hsa040680.29839993
124Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.29732473
125Pathways in cancer_Homo sapiens_hsa052000.29120943
126Regulation of actin cytoskeleton_Homo sapiens_hsa048100.28739391
127Metabolic pathways_Homo sapiens_hsa011000.28512091
128Tryptophan metabolism_Homo sapiens_hsa003800.28408115
129Chemical carcinogenesis_Homo sapiens_hsa052040.28346524
130AMPK signaling pathway_Homo sapiens_hsa041520.27925605
131mRNA surveillance pathway_Homo sapiens_hsa030150.26397001
132Thyroid hormone synthesis_Homo sapiens_hsa049180.26265749
133Folate biosynthesis_Homo sapiens_hsa007900.25168961
134Endometrial cancer_Homo sapiens_hsa052130.24839448
135Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.24516368
136PI3K-Akt signaling pathway_Homo sapiens_hsa041510.23873582
137Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.23703578
138Carbohydrate digestion and absorption_Homo sapiens_hsa049730.23405026
139Legionellosis_Homo sapiens_hsa051340.22695842
140Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.18895347
141Non-small cell lung cancer_Homo sapiens_hsa052230.18132763
142Glutathione metabolism_Homo sapiens_hsa004800.16833087
143ECM-receptor interaction_Homo sapiens_hsa045120.16773016
144Huntingtons disease_Homo sapiens_hsa050160.14080592

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