WFDC10B

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 member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Two alternatively spliced transcript variants have been found for this gene, and they encode distinct isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive regulation of vesicle fusion (GO:0031340)6.46904467
2extracellular fibril organization (GO:0043206)5.61542018
3establishment of integrated proviral latency (GO:0075713)5.46981249
4detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)5.39829036
5establishment of viral latency (GO:0019043)5.35173272
6membrane budding (GO:0006900)5.09074056
7protein heterotetramerization (GO:0051290)4.85817814
8regulation of metalloenzyme activity (GO:0048552)4.78791443
9negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)4.66179607
10hepatocyte differentiation (GO:0070365)4.57244720
11detection of chemical stimulus involved in sensory perception of taste (GO:0050912)4.50929648
12membrane raft organization (GO:0031579)4.35978009
13positive regulation of mitochondrial calcium ion concentration (GO:0051561)4.34397231
14fibril organization (GO:0097435)4.33132272
15protein maturation by protein folding (GO:0022417)4.30890627
16fibrinolysis (GO:0042730)4.30346750
17ganglion development (GO:0061548)4.26144590
18retinal cone cell development (GO:0046549)4.22676110
19G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)4.20322868
20regulation of integrin-mediated signaling pathway (GO:2001044)3.96114503
21response to pheromone (GO:0019236)3.90224815
22negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.88790339
23natural killer cell mediated cytotoxicity (GO:0042267)3.86873971
24natural killer cell mediated immunity (GO:0002228)3.86873971
25negative regulation of thymocyte apoptotic process (GO:0070244)3.84913981
26muscle cell migration (GO:0014812)3.82123464
27endosome to melanosome transport (GO:0035646)3.79809194
28endosome to pigment granule transport (GO:0043485)3.79809194
29proteasome assembly (GO:0043248)3.79316599
30positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.68279923
31morphogenesis of an endothelium (GO:0003159)3.44937776
32endothelial tube morphogenesis (GO:0061154)3.44937776
33establishment of protein localization to mitochondrial membrane (GO:0090151)3.44353807
34positive regulation of endothelial cell differentiation (GO:0045603)3.42209310
35inner mitochondrial membrane organization (GO:0007007)3.37803250
36response to xenobiotic stimulus (GO:0009410)3.33847147
37chaperone-mediated protein transport (GO:0072321)3.33516854
38type B pancreatic cell proliferation (GO:0044342)3.26783499
39negative regulation of T cell differentiation in thymus (GO:0033085)3.18830840
40positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.18817453
41one-carbon compound transport (GO:0019755)3.17823011
42purinergic nucleotide receptor signaling pathway (GO:0035590)3.16257877
43negative regulation of protein localization to cell surface (GO:2000009)3.15242250
44positive regulation of actin filament depolymerization (GO:0030836)3.14336483
45protein neddylation (GO:0045116)3.10968754
46negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.10026363
47vesicle targeting (GO:0006903)3.06729487
48regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.06298704
49positive regulation of Rho protein signal transduction (GO:0035025)3.05793124
50cullin deneddylation (GO:0010388)3.04808819
51adenosine metabolic process (GO:0046085)3.04374232
52anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.01106418
53negative regulation of release of cytochrome c from mitochondria (GO:0090201)2.97964904
54response to interferon-beta (GO:0035456)2.96405853
55pharyngeal system development (GO:0060037)2.95735680
56nucleotide transmembrane transport (GO:1901679)2.94562033
57detection of light stimulus involved in sensory perception (GO:0050962)2.94187088
58detection of light stimulus involved in visual perception (GO:0050908)2.94187088
59mast cell activation involved in immune response (GO:0002279)2.89978424
60mast cell degranulation (GO:0043303)2.89978424
61negative regulation of mitochondrion organization (GO:0010823)2.85625665
62nucleoside salvage (GO:0043174)2.85088115
63protein deneddylation (GO:0000338)2.83556803
64cellular response to arsenic-containing substance (GO:0071243)2.83163934
65negative regulation of glycoprotein metabolic process (GO:1903019)2.82057405
66positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.80945615
67mitochondrial calcium ion homeostasis (GO:0051560)2.79480363
68lipoxygenase pathway (GO:0019372)2.72786398
69positive regulation of ligase activity (GO:0051351)2.72332256
70negative regulation of calcium ion transmembrane transport (GO:1903170)2.71789436
71negative regulation of calcium ion transmembrane transporter activity (GO:1901020)2.71789436
72sequestering of actin monomers (GO:0042989)2.70048561
73pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.66842426
74negative regulation of ligase activity (GO:0051352)2.66759198
75negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.66759198
76regulation of interleukin-8 secretion (GO:2000482)2.65900895
77membrane assembly (GO:0071709)2.64854851
78fatty acid elongation (GO:0030497)2.63613267
79substrate-dependent cell migration (GO:0006929)2.63146912
80kinetochore organization (GO:0051383)2.62784115
81platelet dense granule organization (GO:0060155)2.61621809
82regulation of tyrosine phosphorylation of Stat5 protein (GO:0042522)2.61290694
83positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.59926336
84intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)2.59681543
85exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.59228575
86organelle membrane fusion (GO:0090174)2.57393787
87DNA catabolic process, exonucleolytic (GO:0000738)2.57229452
88base-excision repair, AP site formation (GO:0006285)2.56223720
89response to gravity (GO:0009629)2.55788457
90nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.55517505
91autophagic vacuole fusion (GO:0000046)2.55187491
92organ formation (GO:0048645)2.55003466
93response to X-ray (GO:0010165)2.54930569
94regulation of interferon-gamma-mediated signaling pathway (GO:0060334)2.52167114
95negative regulation of transcription by competitive promoter binding (GO:0010944)2.50886320
96ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162.50695650
97response to hepatocyte growth factor (GO:0035728)2.50424490
98cellular response to hepatocyte growth factor stimulus (GO:0035729)2.50424490
99multicellular organism reproduction (GO:0032504)2.50248304
100G-protein coupled purinergic receptor signaling pathway (GO:0035588)2.50041186

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human4.66095790
2TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.95270827
3KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.65540130
4DMRT1_21621532_ChIP-ChIP_FETAL_Ovary3.62891706
5ELF1_17652178_ChIP-ChIP_JURKAT_Human3.38378672
6GABP_17652178_ChIP-ChIP_JURKAT_Human3.16110766
7SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.05967777
8NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.99220451
9SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.72420763
10ATF3_23680149_ChIP-Seq_GBM1-GSC_Human2.58637987
11HIF1A_21447827_ChIP-Seq_MCF-7_Human2.49843101
12FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.39400174
13VDR_22108803_ChIP-Seq_LS180_Human2.31913029
14EST1_17652178_ChIP-ChIP_JURKAT_Human2.31565402
15ELK1_19687146_ChIP-ChIP_HELA_Human2.29493053
16PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.09998623
17HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.02666830
18JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.99465067
19CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.92940229
20PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.92277389
21MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.89791809
22JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.89285590
23CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.88653274
24JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.87318691
25GATA2_21666600_ChIP-Seq_HMVEC_Human1.85531663
26CJUN_26792858_Chip-Seq_BT549_Human1.82222909
27SRF_21415370_ChIP-Seq_HL-1_Mouse1.81008013
28E2F1_18555785_ChIP-Seq_MESCs_Mouse1.70796944
29CREB1_15753290_ChIP-ChIP_HEK293T_Human1.70447048
30RARG_19884340_ChIP-ChIP_MEFs_Mouse1.70170315
31IRF8_21731497_ChIP-ChIP_J774_Mouse1.67169685
32TRIM28_21343339_ChIP-Seq_HEK293_Human1.66383892
33SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.63355202
34SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.63355202
35EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.54915518
36VDR_23849224_ChIP-Seq_CD4+_Human1.54380690
37STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.53099427
38DCP1A_22483619_ChIP-Seq_HELA_Human1.52210169
39PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.52047175
40CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.50224603
41FOXM1_23109430_ChIP-Seq_U2OS_Human1.49403723
42FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.49104894
43ZFP57_27257070_Chip-Seq_ESCs_Mouse1.48554191
44ETS1_20019798_ChIP-Seq_JURKAT_Human1.47583873
45TAF15_26573619_Chip-Seq_HEK293_Human1.46977019
46POU3F2_20337985_ChIP-ChIP_501MEL_Human1.44086265
47CBP_21632823_ChIP-Seq_H3396_Human1.41716985
48SOX2_20726797_ChIP-Seq_SW620_Human1.40663081
49MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.37906943
50ELK1_22589737_ChIP-Seq_MCF10A_Human1.37176349
51CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.31485090
52EWS_26573619_Chip-Seq_HEK293_Human1.31043940
53FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.28339976
54CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.23203617
55SMAD_19615063_ChIP-ChIP_OVARY_Human1.20950391
56CDX2_20551321_ChIP-Seq_CACO-2_Human1.20347857
57GABP_19822575_ChIP-Seq_HepG2_Human1.20216231
58HOXB4_20404135_ChIP-ChIP_EML_Mouse1.20067785
59FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.19785950
60CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.18723818
61BRD4_25478319_ChIP-Seq_HGPS_Human1.18687470
62NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.18652781
63NRF2_20460467_ChIP-Seq_MEFs_Mouse1.18652781
64E2F4_17652178_ChIP-ChIP_JURKAT_Human1.17864701
65SALL4_22934838_ChIP-ChIP_CD34+_Human1.17343275
66SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.16905353
67CSB_26484114_Chip-Seq_FIBROBLAST_Human1.16602855
68PPAR_26484153_Chip-Seq_NCI-H1993_Human1.16592546
69NELFA_20434984_ChIP-Seq_ESCs_Mouse1.14246054
70PADI4_21655091_ChIP-ChIP_MCF-7_Human1.13185955
71HTT_18923047_ChIP-ChIP_STHdh_Human1.12151596
72Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.09274969
73MYB_21317192_ChIP-Seq_ERMYB_Mouse1.07214116
74HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.06960164
75AR_21909140_ChIP-Seq_LNCAP_Human1.06515105
76FOXM1_26456572_ChIP-Seq_MCF-7_Human1.05962572
77DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.05719214
78MYC_18358816_ChIP-ChIP_MESCs_Mouse1.04564107
79HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.04116080
80MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.03984456
81HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.03466096
82FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.02989326
83CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.02103680
84FOXO3_23340844_ChIP-Seq_DLD1_Human1.01623762
85LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.00873059
86ZNF274_21170338_ChIP-Seq_K562_Hela0.98074183
87CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.97214789
88PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.96499803
89MYC_19030024_ChIP-ChIP_MESCs_Mouse0.94849777
90GATA4_25053715_ChIP-Seq_YYC3_Human0.93707512
91SOX17_20123909_ChIP-Seq_XEN_Mouse0.93399763
92THAP11_20581084_ChIP-Seq_MESCs_Mouse0.93344809
93HOXB7_26014856_ChIP-Seq_BT474_Human0.92948095
94GBX2_23144817_ChIP-Seq_PC3_Human0.88137706
95AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.88059318
96SOX2_19829295_ChIP-Seq_ESCs_Human0.87523719
97NANOG_19829295_ChIP-Seq_ESCs_Human0.87523719
98ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.87191490
99UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.86280609
100RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.85950147

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003724_increased_susceptibility_to3.29670721
2MP0008260_abnormal_autophagy3.23219176
3MP0005367_renal/urinary_system_phenotyp2.96580608
4MP0000516_abnormal_urinary_system2.96580608
5MP0001545_abnormal_hematopoietic_system2.89092219
6MP0005397_hematopoietic_system_phenotyp2.89092219
7MP0005464_abnormal_platelet_physiology2.86270865
8MP0006054_spinal_hemorrhage2.80266915
9MP0003191_abnormal_cellular_cholesterol2.67819199
10MP0001542_abnormal_bone_strength2.56104649
11MP0005165_increased_susceptibility_to2.52362702
12MP0002877_abnormal_melanocyte_morpholog2.44034435
13MP0005084_abnormal_gallbladder_morpholo2.34035443
14MP0008438_abnormal_cutaneous_collagen2.29614584
15MP0005257_abnormal_intraocular_pressure2.29216921
16MP0004510_myositis2.25443398
17MP0009697_abnormal_copulation2.22494255
18MP0002332_abnormal_exercise_endurance2.22077734
19MP0008775_abnormal_heart_ventricle2.21593120
20MP0000858_altered_metastatic_potential2.18651258
21MP0004272_abnormal_basement_membrane2.16293562
22MP0003436_decreased_susceptibility_to2.12166893
23MP0006292_abnormal_olfactory_placode2.06374495
24MP0008004_abnormal_stomach_pH1.98962897
25MP0003718_maternal_effect1.92918042
26MP0003950_abnormal_plasma_membrane1.79557539
27MP0004147_increased_porphyrin_level1.71496214
28MP0001756_abnormal_urination1.71073304
29MP0008058_abnormal_DNA_repair1.60579766
30MP0001879_abnormal_lymphatic_vessel1.59812956
31MP0009333_abnormal_splenocyte_physiolog1.59610088
32MP0003186_abnormal_redox_activity1.59485769
33MP0004084_abnormal_cardiac_muscle1.52527466
34MP0000343_altered_response_to1.50990623
35MP0003566_abnormal_cell_adhesion1.50524873
36MP0003075_altered_response_to1.50061561
37MP0001533_abnormal_skeleton_physiology1.47724092
38MP0003123_paternal_imprinting1.46900788
39MP0005083_abnormal_biliary_tract1.44886418
40MP0003638_abnormal_response/metabolism_1.43438604
41MP0010030_abnormal_orbit_morphology1.41859007
42MP0001853_heart_inflammation1.36992348
43MP0000230_abnormal_systemic_arterial1.33080674
44MP0000534_abnormal_ureter_morphology1.32132308
45MP0002006_tumorigenesis1.25661292
46MP0008873_increased_physiological_sensi1.21964315
47MP0008007_abnormal_cellular_replicative1.21767363
48MP0000751_myopathy1.21589734
49MP0002166_altered_tumor_susceptibility1.20691482
50MP0004957_abnormal_blastocyst_morpholog1.19827217
51MP0005166_decreased_susceptibility_to1.14834564
52MP0005330_cardiomyopathy1.10697492
53MP0005058_abnormal_lysosome_morphology1.10247500
54MP0005395_other_phenotype1.09799173
55MP0000750_abnormal_muscle_regeneration1.09429991
56MP0003806_abnormal_nucleotide_metabolis1.07097178
57MP0005636_abnormal_mineral_homeostasis1.06026497
58MP0008875_abnormal_xenobiotic_pharmacok1.03852534
59MP0003786_premature_aging1.03792748
60MP0002972_abnormal_cardiac_muscle1.03510615
61MP0006036_abnormal_mitochondrial_physio1.02390640
62MP0005075_abnormal_melanosome_morpholog1.02320672
63MP0004142_abnormal_muscle_tone1.01837734
64MP0005275_abnormal_skin_tensile1.01354106
65MP0008872_abnormal_physiological_respon1.01269942
66MP0002282_abnormal_trachea_morphology1.00542972
67MP0001881_abnormal_mammary_gland0.96236873
68MP0000249_abnormal_blood_vessel0.95734801
69MP0003195_calcinosis0.92062681
70MP0000749_muscle_degeneration0.91329351
71MP0005197_abnormal_uvea_morphology0.91264492
72MP0001905_abnormal_dopamine_level0.91059942
73MP0005164_abnormal_response_to0.90750846
74MP0006035_abnormal_mitochondrial_morpho0.90694592
75MP0002148_abnormal_hypersensitivity_rea0.89965990
76MP0009764_decreased_sensitivity_to0.89566029
77MP0010094_abnormal_chromosome_stability0.89135371
78MP0005360_urolithiasis0.88502939
79MP0001835_abnormal_antigen_presentation0.87825593
80MP0001765_abnormal_ion_homeostasis0.87079195
81MP0002060_abnormal_skin_morphology0.83704124
82MP0002177_abnormal_outer_ear0.83365317
83MP0002295_abnormal_pulmonary_circulatio0.80013266
84MP0005390_skeleton_phenotype0.78972814
85MP0008932_abnormal_embryonic_tissue0.78874627
86MP0005408_hypopigmentation0.75504005
87MP0006276_abnormal_autonomic_nervous0.72965797
88MP0009785_altered_susceptibility_to0.70578615
89MP0010386_abnormal_urinary_bladder0.68964862
90MP0009840_abnormal_foam_cell0.68558808
91MP0000647_abnormal_sebaceous_gland0.67336885
92MP0003091_abnormal_cell_migration0.67069632
93MP0000465_gastrointestinal_hemorrhage0.66145771
94MP0005503_abnormal_tendon_morphology0.64677764
95MP0004215_abnormal_myocardial_fiber0.64611962
96MP0005551_abnormal_eye_electrophysiolog0.63326095
97MP0000358_abnormal_cell_content/0.63267341
98MP0000767_abnormal_smooth_muscle0.61696253
99MP0005410_abnormal_fertilization0.61425749
100MP0008789_abnormal_olfactory_epithelium0.60013701

Predicted human phenotypes

RankGene SetZ-score
1Menorrhagia (HP:0000132)4.42323250
2Adrenal hypoplasia (HP:0000835)4.20798792
3Myocardial infarction (HP:0001658)4.02366217
4Amyloidosis (HP:0011034)3.75857311
5Adactyly (HP:0009776)3.69247827
6Exertional dyspnea (HP:0002875)3.53047170
7Petechiae (HP:0000967)3.42396905
8Aplasia/Hypoplasia of the tibia (HP:0005772)3.31739427
9Upper limb muscle weakness (HP:0003484)3.26760947
10Increased mean platelet volume (HP:0011877)3.26135012
11Short tibia (HP:0005736)3.25451542
12Purpura (HP:0000979)3.23088363
13Palpitations (HP:0001962)3.20391769
14Congenital, generalized hypertrichosis (HP:0004540)3.17081146
15Chromosomal breakage induced by crosslinking agents (HP:0003221)3.03112461
16Axonal loss (HP:0003447)3.03036769
17Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.98724942
18Decreased activity of mitochondrial respiratory chain (HP:0008972)2.98724942
19Reduced subcutaneous adipose tissue (HP:0003758)2.96394615
20Abnormal platelet volume (HP:0011876)2.86302766
21Chromsome breakage (HP:0040012)2.80666459
22Osteolytic defects of the phalanges of the hand (HP:0009771)2.77416602
23Osteolytic defects of the hand bones (HP:0009699)2.77416602
24Aplastic anemia (HP:0001915)2.76678060
25Glucose intolerance (HP:0000833)2.75376905
26Delayed CNS myelination (HP:0002188)2.75100466
27Prolonged bleeding time (HP:0003010)2.74355557
28Fibular aplasia (HP:0002990)2.69218203
29Tinnitus (HP:0000360)2.67115551
30Median cleft lip (HP:0000161)2.66759309
31Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.65708156
32Premature rupture of membranes (HP:0001788)2.65683846
33Joint hemorrhage (HP:0005261)2.61773651
34Right ventricular cardiomyopathy (HP:0011663)2.57894147
35Tongue fasciculations (HP:0001308)2.56181243
36Papilledema (HP:0001085)2.56071873
37Epistaxis (HP:0000421)2.54656954
38Abnormal spermatogenesis (HP:0008669)2.52431767
39Increased intramyocellular lipid droplets (HP:0012240)2.50325775
40Gingival bleeding (HP:0000225)2.48248078
41Abnormality of the distal phalanges of the toes (HP:0010182)2.47784994
42Abnormality of alanine metabolism (HP:0010916)2.44313923
43Hyperalaninemia (HP:0003348)2.44313923
44Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.44313923
45Abnormal glucose tolerance (HP:0001952)2.41050223
46Abnormality of the anterior horn cell (HP:0006802)2.38365253
47Degeneration of anterior horn cells (HP:0002398)2.38365253
48Abnormal platelet function (HP:0011869)2.34047484
49Impaired platelet aggregation (HP:0003540)2.34047484
50Spontaneous abortion (HP:0005268)2.33914106
51Atrophy/Degeneration involving motor neurons (HP:0007373)2.33019501
52Abnormal mitochondria in muscle tissue (HP:0008316)2.31864516
53Abnormal auditory evoked potentials (HP:0006958)2.30330395
54Hepatocellular necrosis (HP:0001404)2.29707758
55Prolonged neonatal jaundice (HP:0006579)2.27501813
56Bone cyst (HP:0012062)2.23512630
57Hepatosplenomegaly (HP:0001433)2.21621377
58Microglossia (HP:0000171)2.19952027
59Sclerocornea (HP:0000647)2.19892020
60Mitochondrial inheritance (HP:0001427)2.19695076
61Renal Fanconi syndrome (HP:0001994)2.18825206
62Increased serum pyruvate (HP:0003542)2.16872575
63Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)2.16581929
64Fatigue (HP:0012378)2.13871736
65Amyotrophic lateral sclerosis (HP:0007354)2.12609507
66Decreased electroretinogram (ERG) amplitude (HP:0000654)2.10757906
67Elevated erythrocyte sedimentation rate (HP:0003565)2.07578805
68Muscle fibrillation (HP:0010546)2.05876942
69Bifid uvula (HP:0000193)2.05854519
70Acute necrotizing encephalopathy (HP:0006965)2.04721488
71Irregular vertebral endplates (HP:0003301)2.04616434
72Vascular calcification (HP:0004934)2.04118554
73Abnormality of lateral ventricle (HP:0030047)2.03586284
74Chorioretinal atrophy (HP:0000533)2.03470720
75Meckel diverticulum (HP:0002245)2.01832779
76Porencephaly (HP:0002132)1.98833606
77Cleft eyelid (HP:0000625)1.98252713
78Sensory axonal neuropathy (HP:0003390)1.96299569
79Cardiovascular calcification (HP:0011915)1.92667748
80Abnormal autonomic nervous system physiology (HP:0012332)1.89715901
81Increased CSF lactate (HP:0002490)1.89336635
82Conjunctival hamartoma (HP:0100780)1.89202522
83Sparse eyelashes (HP:0000653)1.88418557
84Broad face (HP:0000283)1.86796147
85Peritonitis (HP:0002586)1.85185330
86Aplasia/Hypoplasia of the uvula (HP:0010293)1.84927858
87Acute encephalopathy (HP:0006846)1.84501741
88Progressive macrocephaly (HP:0004481)1.81990125
89Mucosal telangiectasiae (HP:0100579)1.80028319
90Increased serum lactate (HP:0002151)1.79949242
91Abnormality of the preputium (HP:0100587)1.79602144
92Abnormality of the ileum (HP:0001549)1.79032121
93Spinal muscular atrophy (HP:0007269)1.77606029
94Dysautonomia (HP:0002459)1.74160429
95Abnormality of glycolysis (HP:0004366)1.72679821
96Hepatic necrosis (HP:0002605)1.72510733
97Limb-girdle muscle atrophy (HP:0003797)1.71372701
98Orthostatic hypotension (HP:0001278)1.70688626
99Cerebral hemorrhage (HP:0001342)1.70175914
100Absent hand (HP:0004050)1.69414018

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K124.24985195
2MST1R3.73097718
3MST43.58990752
4TESK13.31803298
5EPHA23.22254041
6MYLK3.19276919
7TLK13.13177320
8LIMK12.96897004
9LMTK22.73614298
10MAPKAPK32.64470723
11NME22.36093729
12MAP4K22.30829574
13DAPK12.27474990
14VRK22.17093966
15TESK21.99425430
16ARAF1.79873479
17ERBB31.79121091
18MET1.73747539
19PTK2B1.55067050
20MOS1.54369608
21BUB11.52629496
22FRK1.52561109
23ZAK1.50332731
24STK101.43837412
25ILK1.38097467
26PLK31.33575683
27TRIM281.32983458
28BMPR1B1.29632188
29PIK3CG1.25058488
30ABL21.22918299
31VRK11.17989362
32SRPK11.16134926
33PAK41.13889618
34PIM21.11491281
35BMX1.09658305
36GRK51.07159437
37PDK21.04846246
38BRSK21.00575116
39ERBB40.98183491
40TRPM70.98014448
41CDK80.98013135
42TAOK30.95396661
43EIF2AK10.93108204
44NEK10.89535305
45PHKG10.87993122
46PHKG20.87993122
47PBK0.83379746
48CCNB10.80767895
49ADRBK20.78534000
50MAP2K70.78179841
51DAPK30.77303086
52NUAK10.76982855
53GRK70.76830228
54ADRBK10.76170537
55EPHA40.75907990
56EIF2AK30.75805836
57TGFBR20.74682103
58PAK10.73765004
59BRSK10.71732127
60BCR0.70801684
61MAP3K20.67483935
62PTK20.61137889
63PLK10.57423275
64KDR0.56438841
65AURKA0.54631427
66AURKB0.52874030
67BCKDK0.52642560
68TTK0.52383963
69JAK10.51059957
70BRAF0.49912645
71CDK190.47500637
72EPHB20.47014325
73NEK90.46275516
74IGF1R0.45361046
75TAOK20.43933847
76MUSK0.43065552
77BMPR20.42504544
78EGFR0.42285149
79JAK20.41018375
80FER0.39558012
81STK240.39319836
82PRKCI0.38887336
83TYK20.38023960
84MAPKAPK20.37840203
85MAP3K50.37262155
86OXSR10.36973793
87STK38L0.35576455
88STK30.33727489
89MINK10.32841632
90PRKCE0.30354050
91PRKG10.29142325
92NEK20.28979250
93PRKACB0.28837921
94PRKCD0.26453373
95STK40.26167611
96CSNK1G30.26090963
97ROCK10.25774937
98IKBKB0.23538427
99ABL10.23531915
100CDK140.23210587

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.18942028
2Asthma_Homo sapiens_hsa053103.72978429
3Allograft rejection_Homo sapiens_hsa053302.57700952
4SNARE interactions in vesicular transport_Homo sapiens_hsa041302.53261802
5Graft-versus-host disease_Homo sapiens_hsa053322.50304571
6Fatty acid elongation_Homo sapiens_hsa000622.48493151
7Phototransduction_Homo sapiens_hsa047442.44274254
8Autoimmune thyroid disease_Homo sapiens_hsa053202.44031424
9Intestinal immune network for IgA production_Homo sapiens_hsa046722.37733408
10DNA replication_Homo sapiens_hsa030302.30106616
11Viral myocarditis_Homo sapiens_hsa054162.07606582
12Oxidative phosphorylation_Homo sapiens_hsa001902.03606834
13Base excision repair_Homo sapiens_hsa034101.89873749
14Parkinsons disease_Homo sapiens_hsa050121.89029095
15Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.84634121
16Type I diabetes mellitus_Homo sapiens_hsa049401.78089181
17Steroid biosynthesis_Homo sapiens_hsa001001.76055395
18Pyruvate metabolism_Homo sapiens_hsa006201.70291086
19Homologous recombination_Homo sapiens_hsa034401.66244851
20Antigen processing and presentation_Homo sapiens_hsa046121.63771742
21Huntingtons disease_Homo sapiens_hsa050161.62187078
22Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.59651391
23Primary bile acid biosynthesis_Homo sapiens_hsa001201.56120197
24Alzheimers disease_Homo sapiens_hsa050101.53464526
25Fanconi anemia pathway_Homo sapiens_hsa034601.52380603
26Salivary secretion_Homo sapiens_hsa049701.50463749
27RNA polymerase_Homo sapiens_hsa030201.50225974
28Mismatch repair_Homo sapiens_hsa034301.45261487
29Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.44361465
30Glutathione metabolism_Homo sapiens_hsa004801.40692201
31Nucleotide excision repair_Homo sapiens_hsa034201.40079324
32Staphylococcus aureus infection_Homo sapiens_hsa051501.37183659
33Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.36921942
34Propanoate metabolism_Homo sapiens_hsa006401.36126288
35Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.32110829
36Leishmaniasis_Homo sapiens_hsa051401.31390989
37Rheumatoid arthritis_Homo sapiens_hsa053231.23284086
38Pyrimidine metabolism_Homo sapiens_hsa002401.22546039
39Regulation of autophagy_Homo sapiens_hsa041401.20540303
40Basal transcription factors_Homo sapiens_hsa030221.13946898
41Non-homologous end-joining_Homo sapiens_hsa034501.12775976
42Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.08958921
43Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.08794024
44Salmonella infection_Homo sapiens_hsa051321.06553641
45Toxoplasmosis_Homo sapiens_hsa051451.03766127
46Protein export_Homo sapiens_hsa030601.03108421
47Cysteine and methionine metabolism_Homo sapiens_hsa002701.00820453
48Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.91601837
49Arachidonic acid metabolism_Homo sapiens_hsa005900.86548638
50Sulfur relay system_Homo sapiens_hsa041220.86509217
51Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.86376464
52Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.80800341
53Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.80533455
54Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.78237598
55Hematopoietic cell lineage_Homo sapiens_hsa046400.77788359
56Mineral absorption_Homo sapiens_hsa049780.77318182
57Legionellosis_Homo sapiens_hsa051340.73601749
58Circadian rhythm_Homo sapiens_hsa047100.71721760
59Galactose metabolism_Homo sapiens_hsa000520.69751173
60Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.69605325
61Influenza A_Homo sapiens_hsa051640.69460982
62RNA transport_Homo sapiens_hsa030130.67057751
63Platelet activation_Homo sapiens_hsa046110.66672138
64ECM-receptor interaction_Homo sapiens_hsa045120.65919635
65Phagosome_Homo sapiens_hsa041450.65502776
66Folate biosynthesis_Homo sapiens_hsa007900.64519278
67Herpes simplex infection_Homo sapiens_hsa051680.63429798
68Cell cycle_Homo sapiens_hsa041100.62405110
69Glycosaminoglycan degradation_Homo sapiens_hsa005310.62111089
70RNA degradation_Homo sapiens_hsa030180.61825853
71Linoleic acid metabolism_Homo sapiens_hsa005910.60128049
72Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.56957906
73Pentose phosphate pathway_Homo sapiens_hsa000300.54859195
74Glycerolipid metabolism_Homo sapiens_hsa005610.54313148
75Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.47485079
76Purine metabolism_Homo sapiens_hsa002300.45270724
77Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.44404594
78Pertussis_Homo sapiens_hsa051330.44384750
79Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.44040796
80Starch and sucrose metabolism_Homo sapiens_hsa005000.43932015
81N-Glycan biosynthesis_Homo sapiens_hsa005100.41405717
82Pentose and glucuronate interconversions_Homo sapiens_hsa000400.40812962
83Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.40364383
84Metabolic pathways_Homo sapiens_hsa011000.39203795
85Oocyte meiosis_Homo sapiens_hsa041140.37229504
86Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.36926115
87Chemical carcinogenesis_Homo sapiens_hsa052040.36853860
88Tuberculosis_Homo sapiens_hsa051520.35282471
89Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.34351568
90Histidine metabolism_Homo sapiens_hsa003400.33107288
91Lysosome_Homo sapiens_hsa041420.32815708
92Biosynthesis of amino acids_Homo sapiens_hsa012300.32528538
93alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.31722360
94Cardiac muscle contraction_Homo sapiens_hsa042600.31630885
95Drug metabolism - other enzymes_Homo sapiens_hsa009830.31005450
96beta-Alanine metabolism_Homo sapiens_hsa004100.30967389
97Endocytosis_Homo sapiens_hsa041440.30571382
98Systemic lupus erythematosus_Homo sapiens_hsa053220.30038530
99Steroid hormone biosynthesis_Homo sapiens_hsa001400.29311837
100Shigellosis_Homo sapiens_hsa051310.28729778

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