DFNA5

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: Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of vitamin D biosynthetic process (GO:0060556)5.31627341
2cell adhesion mediated by integrin (GO:0033627)5.00411388
3regulation of cytokine secretion involved in immune response (GO:0002739)4.98245879
4diterpenoid biosynthetic process (GO:0016102)4.92110701
5protein localization to endosome (GO:0036010)4.64310799
6T-helper 1 type immune response (GO:0042088)4.61205919
7adhesion of symbiont to host cell (GO:0044650)4.35308168
8virion attachment to host cell (GO:0019062)4.35308168
9positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)4.30345628
10adhesion of symbiont to host (GO:0044406)4.28015141
11regulation of vitamin metabolic process (GO:0030656)4.24461052
12regulation of mononuclear cell migration (GO:0071675)4.23454671
13purine nucleobase biosynthetic process (GO:0009113)4.17160672
14regulation of fever generation (GO:0031620)4.03150239
15positive regulation of heat generation (GO:0031652)3.96712244
16glycosphingolipid catabolic process (GO:0046479)3.96142937
17myeloid dendritic cell differentiation (GO:0043011)3.90675080
18positive regulation of chemokine biosynthetic process (GO:0045080)3.86494951
19hemidesmosome assembly (GO:0031581)3.85785736
20oligosaccharide catabolic process (GO:0009313)3.77877146
21positive regulation of interferon-gamma biosynthetic process (GO:0045078)3.77367805
22negative regulation of phagocytosis (GO:0050765)3.76810306
23nucleobase biosynthetic process (GO:0046112)3.71651361
24viral mRNA export from host cell nucleus (GO:0046784)3.65521231
25positive regulation of membrane protein ectodomain proteolysis (GO:0051044)3.62077586
26activation of MAPKKK activity (GO:0000185)3.60266853
27CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)3.58847686
28regulation of podosome assembly (GO:0071801)3.58634040
29NIK/NF-kappaB signaling (GO:0038061)3.54429050
30cullin deneddylation (GO:0010388)3.52281496
31regulation of membrane protein ectodomain proteolysis (GO:0051043)3.52229182
32regulation of T-helper 1 cell differentiation (GO:0045625)3.50354994
33protein deneddylation (GO:0000338)3.48792905
34glycolipid catabolic process (GO:0019377)3.46892584
35cytochrome complex assembly (GO:0017004)3.46174159
36definitive hemopoiesis (GO:0060216)3.45582854
37amino sugar catabolic process (GO:0046348)3.44748941
38regulation of interferon-gamma biosynthetic process (GO:0045072)3.43498658
39regulation of early endosome to late endosome transport (GO:2000641)3.42300073
40terpenoid biosynthetic process (GO:0016114)3.42122653
41barbed-end actin filament capping (GO:0051016)3.39916391
42skin morphogenesis (GO:0043589)3.38730777
43signal peptide processing (GO:0006465)3.36878005
44cellular response to type I interferon (GO:0071357)3.31144840
45type I interferon signaling pathway (GO:0060337)3.31144840
46positive regulation of p38MAPK cascade (GO:1900745)3.29662575
47regulation of cholesterol storage (GO:0010885)3.29461551
48cellular response to arsenic-containing substance (GO:0071243)3.27570727
49tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.26824840
50RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.26824840
51IMP biosynthetic process (GO:0006188)3.24306709
52response to type I interferon (GO:0034340)3.22859579
53regulation of chronic inflammatory response (GO:0002676)3.22537803
54lipopolysaccharide-mediated signaling pathway (GO:0031663)3.21219631
55protein complex biogenesis (GO:0070271)3.19916608
56sphingosine metabolic process (GO:0006670)3.18850056
57DNA double-strand break processing (GO:0000729)3.18516313
58regulation of interferon-alpha production (GO:0032647)3.16421633
59low-density lipoprotein particle clearance (GO:0034383)3.15507527
60regulation of immunoglobulin secretion (GO:0051023)3.15267897
61intraciliary transport (GO:0042073)3.14813682
62negative regulation of nitric oxide biosynthetic process (GO:0045019)3.14641719
63substrate-dependent cell migration (GO:0006929)3.13267014
64DNA ligation (GO:0006266)3.13166388
65maturation of 5.8S rRNA (GO:0000460)3.12726435
66regulation of chemokine biosynthetic process (GO:0045073)3.12289851
67telomere maintenance via recombination (GO:0000722)3.11181687
68telomere maintenance via semi-conservative replication (GO:0032201)3.10040011
69regulation of heat generation (GO:0031650)3.09798784
70meiotic chromosome segregation (GO:0045132)3.09422778
71respiratory chain complex IV assembly (GO:0008535)3.07990792
72bone resorption (GO:0045453)3.07843712
73negative regulation of mast cell activation (GO:0033004)3.07607544
74dendritic cell differentiation (GO:0097028)3.06225805
75CENP-A containing nucleosome assembly (GO:0034080)3.05127342
76positive regulation of heterotypic cell-cell adhesion (GO:0034116)3.03339487
77proteasome assembly (GO:0043248)3.02238367
78kinetochore organization (GO:0051383)3.00471724
79negative regulation of dendrite morphogenesis (GO:0050774)3.00421454
807-methylguanosine RNA capping (GO:0009452)3.00175241
81RNA capping (GO:0036260)3.00175241
82ceramide catabolic process (GO:0046514)2.98143746
83negative regulation of synaptic transmission, GABAergic (GO:0032229)2.97847854
84myeloid dendritic cell activation (GO:0001773)2.95416667
85histone H2A acetylation (GO:0043968)2.95115677
86endocytic recycling (GO:0032456)2.95062865
87positive regulation of male gonad development (GO:2000020)2.94749058
887-methylguanosine mRNA capping (GO:0006370)2.94068805
89glial cell migration (GO:0008347)2.94013238
90regulation of macrophage chemotaxis (GO:0010758)2.93395268
91positive regulation of chemokine secretion (GO:0090197)2.91899648
92mitotic recombination (GO:0006312)2.90754023
93negative regulation of mesenchymal cell apoptotic process (GO:2001054)2.90748248
94replication fork processing (GO:0031297)2.90443951
95interferon-gamma-mediated signaling pathway (GO:0060333)2.89990358
96regulation of mitotic spindle checkpoint (GO:1903504)2.89921669
97regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.89921669
98mitochondrial respiratory chain complex assembly (GO:0033108)2.89244751
99inositol phosphate catabolic process (GO:0071545)2.89205409
100mesonephros development (GO:0001823)2.88008554
101Golgi transport vesicle coating (GO:0048200)2.87315293
102COPI coating of Golgi vesicle (GO:0048205)2.87315293
103stress fiber assembly (GO:0043149)2.86769225
104positive regulation of mitochondrial fission (GO:0090141)2.85659290
105modulation by symbiont of host cellular process (GO:0044068)2.84539352
106negative regulation of interleukin-12 production (GO:0032695)2.84438629
107pinocytosis (GO:0006907)2.83059644
108kinetochore assembly (GO:0051382)2.81495564
109decidualization (GO:0046697)2.80893673
110regulation of male gonad development (GO:2000018)2.79704269
111histamine secretion (GO:0001821)2.79449208
112GMP metabolic process (GO:0046037)2.77827525
113cell differentiation involved in metanephros development (GO:0072202)2.77076083
114mannosylation (GO:0097502)2.76951515
115DNA strand renaturation (GO:0000733)2.76931762
116deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.76644026
117endodermal cell differentiation (GO:0035987)2.76553811
118deoxyribose phosphate biosynthetic process (GO:0046385)2.75870937
1192-deoxyribonucleotide biosynthetic process (GO:0009265)2.75870937
120poly(A)+ mRNA export from nucleus (GO:0016973)2.75407446
121negative regulation of inflammatory response to antigenic stimulus (GO:0002862)2.74825237
122heart contraction (GO:0060047)2.74575204
123heart process (GO:0003015)2.74575204
124T cell lineage commitment (GO:0002360)2.74544336
125chromatin remodeling at centromere (GO:0031055)2.74108940
126protein localization to cytoskeleton (GO:0044380)2.73302924
127cellular response to lipopolysaccharide (GO:0071222)2.73187304
128adenine nucleotide transport (GO:0051503)2.71075971
129protein localization to cilium (GO:0061512)2.70848500
130dopamine transport (GO:0015872)2.70818012
131glomerulus development (GO:0032835)2.69845906
132immunoglobulin mediated immune response (GO:0016064)2.66938872
133serine transport (GO:0032329)2.66175290
134mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.65320146
135mitochondrial respiratory chain complex I assembly (GO:0032981)2.65320146
136NADH dehydrogenase complex assembly (GO:0010257)2.65320146
137regulation of syncytium formation by plasma membrane fusion (GO:0060142)2.65131668
138membrane lipid catabolic process (GO:0046466)2.64646029
139mitochondrion distribution (GO:0048311)2.63804358
140dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.63658495
141aggressive behavior (GO:0002118)2.62641154
142fat-soluble vitamin biosynthetic process (GO:0042362)2.62326272
143purine ribonucleotide transport (GO:0015868)2.61754942
144cellular response to thyroid hormone stimulus (GO:0097067)2.61312653
145positive regulation of interferon-alpha production (GO:0032727)2.60939657
146deoxyribonucleoside triphosphate metabolic process (GO:0009200)2.60389736
147response to peptidoglycan (GO:0032494)2.59621510
148positive regulation of extracellular matrix organization (GO:1903055)2.59216340
149daunorubicin metabolic process (GO:0044597)2.58946832
150polyketide metabolic process (GO:0030638)2.58946832
151doxorubicin metabolic process (GO:0044598)2.58946832
152regulation of cell maturation (GO:1903429)2.58287724
153cellular response to molecule of bacterial origin (GO:0071219)2.57718087
154hyaluronan catabolic process (GO:0030214)2.57211762
155vitamin A metabolic process (GO:0006776)2.56262311
156chaperone-mediated protein transport (GO:0072321)2.56097806
157DNA catabolic process, exonucleolytic (GO:0000738)2.55921039
158nucleotide-excision repair, DNA gap filling (GO:0006297)2.54791454
159osteoclast differentiation (GO:0030316)2.54367143
160negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)2.54158087
161membrane raft organization (GO:0031579)2.52289820
162negative regulation of metanephros development (GO:0072217)2.52056113
163mesenchymal cell differentiation involved in kidney development (GO:0072161)2.51473427
164mesenchymal cell differentiation involved in renal system development (GO:2001012)2.51473427
165DNA strand elongation (GO:0022616)2.50854726
166DNA strand elongation involved in DNA replication (GO:0006271)2.50346562
167regulation of type I interferon-mediated signaling pathway (GO:0060338)2.49765582
168sphingolipid catabolic process (GO:0030149)2.49662912
169startle response (GO:0001964)2.48951617
170negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)2.48662076
171response to magnesium ion (GO:0032026)2.48575492
172axon extension involved in axon guidance (GO:0048846)2.48430292
173neuron projection extension involved in neuron projection guidance (GO:1902284)2.48430292
174IMP metabolic process (GO:0046040)2.47782672
175positive regulation of NF-kappaB import into nucleus (GO:0042346)2.47757479
176regulation of penile erection (GO:0060405)2.47748961
177intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)2.47454145
178positive regulation of humoral immune response (GO:0002922)2.47058873
179cellular response to interferon-gamma (GO:0071346)2.46871322
180embryonic digestive tract development (GO:0048566)2.46767708
181deoxyribonucleotide biosynthetic process (GO:0009263)2.46740753
182regulation of apoptotic process involved in morphogenesis (GO:1902337)2.46522585
183macrophage activation involved in immune response (GO:0002281)2.45930310
184negative regulation of myeloid cell apoptotic process (GO:0033033)2.45633383
185transcription-coupled nucleotide-excision repair (GO:0006283)2.45595503
186tRNA methylation (GO:0030488)2.45516075
187positive regulation of endothelial cell apoptotic process (GO:2000353)2.44962494
188RNA-dependent DNA replication (GO:0006278)2.44715420
189endoplasmic reticulum calcium ion homeostasis (GO:0032469)2.44591217
190positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)2.43542632
191protein-cofactor linkage (GO:0018065)2.43277372
192megakaryocyte development (GO:0035855)2.43075370
193regulation of nuclear cell cycle DNA replication (GO:0033262)2.42869916
194regulation of tumor necrosis factor biosynthetic process (GO:0042534)2.42832718
195tRNA processing (GO:0008033)2.41695818
196maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.41675853
197rRNA methylation (GO:0031167)2.41085639
198neural tube formation (GO:0001841)2.39517437
199pyrimidine deoxyribonucleotide metabolic process (GO:0009219)2.39160685
200aerobic respiration (GO:0009060)2.38186801

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human7.40110090
2E2F7_22180533_ChIP-Seq_HELA_Human5.44342647
3TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse4.02428615
4RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human3.94901202
5NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human3.80240722
6NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.33720158
7GBX2_23144817_ChIP-Seq_PC3_Human3.30233813
8KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.24766270
9TRIM28_21343339_ChIP-Seq_HEK293_Human3.02465839
10RARG_19884340_ChIP-ChIP_MEFs_Mouse3.00468982
11PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.92632825
12MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.86586932
13IRF8_22096565_ChIP-ChIP_GC-B_Human2.73658387
14ELF1_17652178_ChIP-ChIP_JURKAT_Human2.66895003
15TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.64658478
16* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.63103920
17TAF15_26573619_Chip-Seq_HEK293_Human2.51521090
18HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.48961002
19RBPJ_22232070_ChIP-Seq_NCS_Mouse2.46363277
20* IRF8_27001747_Chip-Seq_BMDM_Mouse2.45212415
21BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.43324871
22SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.41587899
23NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.38742348
24HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.36299126
25NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human2.35212342
26GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.28730542
27GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.28323691
28EGR1_19374776_ChIP-ChIP_THP-1_Human2.28050649
29SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.27324488
30* POU3F2_20337985_ChIP-ChIP_501MEL_Human2.26962173
31FUS_26573619_Chip-Seq_HEK293_Human2.26652778
32CLOCK_20551151_ChIP-Seq_293T_Human2.26344713
33SMAD_19615063_ChIP-ChIP_OVARY_Human2.22085356
34E2F4_17652178_ChIP-ChIP_JURKAT_Human2.19961670
35ATF3_23680149_ChIP-Seq_GBM1-GSC_Human2.19678996
36ZFP57_27257070_Chip-Seq_ESCs_Mouse2.18247804
37SRF_21415370_ChIP-Seq_HL-1_Mouse2.12977477
38EST1_17652178_ChIP-ChIP_JURKAT_Human2.10687838
39NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.09741159
40TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.08098869
41HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.06748931
42* SMAD3_18955504_ChIP-ChIP_HaCaT_Human2.05391669
43* SMAD2_18955504_ChIP-ChIP_HaCaT_Human2.05391669
44EWS_26573619_Chip-Seq_HEK293_Human2.05124390
45JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.01406148
46HIF1A_21447827_ChIP-Seq_MCF-7_Human1.99303837
47ELK1_19687146_ChIP-ChIP_HELA_Human1.98559292
48PCGF2_27294783_Chip-Seq_ESCs_Mouse1.94694640
49* UBF1/2_26484160_Chip-Seq_HMECs_Human1.94685291
50JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.92882004
51FLI1_27457419_Chip-Seq_LIVER_Mouse1.92171267
52JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.91705257
53THAP11_20581084_ChIP-Seq_MESCs_Mouse1.88252258
54* TP53_22127205_ChIP-Seq_IMR90_Human1.86889734
55IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.85185974
56TP53_18474530_ChIP-ChIP_U2OS_Human1.84163998
57POU5F1_16153702_ChIP-ChIP_HESCs_Human1.81955227
58TP63_19390658_ChIP-ChIP_HaCaT_Human1.81003159
59STAT4_19710469_ChIP-ChIP_TH1__Mouse1.79119630
60FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.78149773
61ELK3_25401928_ChIP-Seq_HUVEC_Human1.78056550
62CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.75529087
63GABP_17652178_ChIP-ChIP_JURKAT_Human1.75445483
64CJUN_26792858_Chip-Seq_BT549_Human1.75183657
65PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.75142384
66RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.75113613
67YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.74416148
68P300_19829295_ChIP-Seq_ESCs_Human1.73015581
69* MYB_21317192_ChIP-Seq_ERMYB_Mouse1.72994492
70HOXB4_20404135_ChIP-ChIP_EML_Mouse1.67365521
71VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.66982328
72SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.66196553
73CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.62000752
74VDR_24787735_ChIP-Seq_THP-1_Human1.59365927
75ZNF263_19887448_ChIP-Seq_K562_Human1.59220964
76HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.58874512
77GATA2_21666600_ChIP-Seq_HMVEC_Human1.56735023
78BMI1_23680149_ChIP-Seq_NPCS_Mouse1.56123755
79BRD4_25478319_ChIP-Seq_HGPS_Human1.55020140
80CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.52621478
81TP53_16413492_ChIP-PET_HCT116_Human1.50988292
82TFEB_21752829_ChIP-Seq_HELA_Human1.50870889
83LXR_22292898_ChIP-Seq_THP-1_Human1.50653525
84WT1_19549856_ChIP-ChIP_CCG9911_Human1.49997660
85ESR2_21235772_ChIP-Seq_MCF-7_Human1.48586045
86FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.47518195
87* CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.44620539
88YY1_21170310_ChIP-Seq_MESCs_Mouse1.44216041
89DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.43764637
90STAT3_18555785_Chip-Seq_ESCs_Mouse1.43484054
91PPAR_26484153_Chip-Seq_NCI-H1993_Human1.43409618
92SUZ12_27294783_Chip-Seq_NPCs_Mouse1.41595163
93P53_22387025_ChIP-Seq_ESCs_Mouse1.41559502
94IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.40774134
95RNF2_27304074_Chip-Seq_NSC_Mouse1.40443658
96NFE2_27457419_Chip-Seq_LIVER_Mouse1.39610695
97PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.39497890
98NANOG_18555785_Chip-Seq_ESCs_Mouse1.38517942
99SUZ12_18555785_Chip-Seq_ESCs_Mouse1.38475764
100E2F1_18555785_Chip-Seq_ESCs_Mouse1.38325049
101EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.38298298
102P300_27058665_Chip-Seq_ZR-75-30cells_Human1.36435277
103IGF1R_20145208_ChIP-Seq_DFB_Human1.35870874
104VDR_23849224_ChIP-Seq_CD4+_Human1.35462419
105CTBP2_25329375_ChIP-Seq_LNCAP_Human1.33438088
106SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.32859746
107IRF1_19129219_ChIP-ChIP_H3396_Human1.32471337
108P300_18555785_Chip-Seq_ESCs_Mouse1.31075966
109NFIB_24661679_ChIP-Seq_LUNG_Mouse1.30391728
110CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.29653290
111TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.29034785
112NMYC_18555785_Chip-Seq_ESCs_Mouse1.28397347
113TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.28336405
114CREB1_15753290_ChIP-ChIP_HEK293T_Human1.28307856
115FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.27179352
116KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.26826495
117CBX2_27304074_Chip-Seq_ESCs_Mouse1.26296068
118MYC_18555785_ChIP-Seq_MESCs_Mouse1.25685733
119FOXP3_21729870_ChIP-Seq_TREG_Human1.24842680
120CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.24806884
121FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.24801885
122UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.23597305
123SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.23077454
124TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.22747674
125NRF2_20460467_ChIP-Seq_MEFs_Mouse1.22657224
126NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.22657224
127EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.21752454
128MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.20651227
129VDR_21846776_ChIP-Seq_THP-1_Human1.20097147
130ATF3_27146783_Chip-Seq_COLON_Human1.19169126
131SRY_22984422_ChIP-ChIP_TESTIS_Rat1.18808241
132SOX2_18555785_Chip-Seq_ESCs_Mouse1.17570958
133PCGF2_27294783_Chip-Seq_NPCs_Mouse1.17286524
134RUNX1_27457419_Chip-Seq_LIVER_Mouse1.17230856
135CMYC_18555785_Chip-Seq_ESCs_Mouse1.15834874
136BRD4_27068464_Chip-Seq_AML-cells_Mouse1.15593959
137MYC_19030024_ChIP-ChIP_MESCs_Mouse1.15061514
138EZH2_27294783_Chip-Seq_NPCs_Mouse1.13945050
139MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.13878058
140ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.13620680
141SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.12512885
142OCT4_18555785_Chip-Seq_ESCs_Mouse1.12269046
143MYC_18358816_ChIP-ChIP_MESCs_Mouse1.11922795
144PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.11762421
145SOX9_26525672_Chip-Seq_HEART_Mouse1.11745778
146E2F1_21310950_ChIP-Seq_MCF-7_Human1.11039035
147STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.10595522
148ETS1_20019798_ChIP-Seq_JURKAT_Human1.10284194
149DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.09739102
150ER_23166858_ChIP-Seq_MCF-7_Human1.08977669
151WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.08734999
152* SOX2_20726797_ChIP-Seq_SW620_Human1.08614176
153* SMAD4_21799915_ChIP-Seq_A2780_Human1.07946086
154VDR_24763502_ChIP-Seq_THP-1_Human1.07751884
155SCL_19346495_ChIP-Seq_HPC-7_Human1.07492933
156KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.07414205
157KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.07290432
158* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.07085310
159CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06667412
160FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.06492001
161ERG_20887958_ChIP-Seq_HPC-7_Mouse1.05685450
162CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.05212338
163* SALL4_22934838_ChIP-ChIP_CD34+_Human1.04749659
164IRF8_21731497_ChIP-ChIP_J774_Mouse1.04598628
165PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.04146253
166* JUN_21703547_ChIP-Seq_K562_Human1.03852924
167STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.03344796
168ZFX_18555785_Chip-Seq_ESCs_Mouse1.03045432
169PU1_27457419_Chip-Seq_LIVER_Mouse1.02541631
170SMAD1_18555785_Chip-Seq_ESCs_Mouse1.02363250
171MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.01994658
172BP1_19119308_ChIP-ChIP_Hs578T_Human1.01366917
173PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.01029698
174THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.00961832
175PADI4_21655091_ChIP-ChIP_MCF-7_Human1.00577764
176MYC_18940864_ChIP-ChIP_HL60_Human1.00218540
177MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.00130713
178NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.99129825
179SMC1_22415368_ChIP-Seq_MEFs_Mouse0.98363663
180NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.97950018
181EP300_21415370_ChIP-Seq_HL-1_Mouse0.96232093
182KDM2B_26808549_Chip-Seq_SUP-B15_Human0.94128072
183PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.93984752
184MITF_21258399_ChIP-Seq_MELANOMA_Human0.93970467
185ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.93718395
186ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.91365970
187* P63_26484246_Chip-Seq_KERATINOCYTES_Human0.91364269
188TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.90972248
189SALL4_18804426_ChIP-ChIP_XEN_Mouse0.90805290
190STAT6_21828071_ChIP-Seq_BEAS2B_Human0.90710959
191TP53_23651856_ChIP-Seq_MEFs_Mouse0.89699514
192CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.89698350
193KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.89236317
194EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.80277879
195TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.78650027
196SA1_22415368_ChIP-Seq_MEFs_Mouse0.78217579
197ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.78140434

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009840_abnormal_foam_cell4.35293782
2MP0005257_abnormal_intraocular_pressure4.16560138
3MP0005058_abnormal_lysosome_morphology3.91071386
4MP0003303_peritoneal_inflammation3.81692582
5MP0005409_darkened_coat_color3.58976203
6MP0001188_hyperpigmentation3.35299604
7MP0008438_abnormal_cutaneous_collagen3.32192098
8MP0003950_abnormal_plasma_membrane3.14466384
9MP0003136_yellow_coat_color3.06900647
10MP0002139_abnormal_hepatobiliary_system3.06235205
11MP0004510_myositis2.88798663
12MP0000566_synostosis2.73449362
13MP0003122_maternal_imprinting2.69479599
14MP0009697_abnormal_copulation2.68312947
15MP0002876_abnormal_thyroid_physiology2.66002373
16MP0006292_abnormal_olfactory_placode2.62146141
17MP0001986_abnormal_taste_sensitivity2.61887532
18MP0003787_abnormal_imprinting2.59804894
19MP0006082_CNS_inflammation2.54837572
20MP0003091_abnormal_cell_migration2.47660996
21MP0008058_abnormal_DNA_repair2.47446236
22MP0005646_abnormal_pituitary_gland2.47083509
23MP0002877_abnormal_melanocyte_morpholog2.43112637
24MP0000015_abnormal_ear_pigmentation2.41257993
25MP0000604_amyloidosis2.36816735
26MP0000343_altered_response_to2.29154684
27MP0003121_genomic_imprinting2.23223582
28MP0010094_abnormal_chromosome_stability2.22105068
29MP0003941_abnormal_skin_development2.15771007
30MP0003453_abnormal_keratinocyte_physiol2.13006608
31MP0008007_abnormal_cellular_replicative2.10959133
32MP0001529_abnormal_vocalization2.08651959
33MP0005623_abnormal_meninges_morphology2.03564714
34MP0000685_abnormal_immune_system2.03530996
35MP0008057_abnormal_DNA_replication2.03251807
36MP0003123_paternal_imprinting2.02567417
37MP0000678_abnormal_parathyroid_gland2.01127762
38MP0003943_abnormal_hepatobiliary_system2.00280896
39MP0003172_abnormal_lysosome_physiology1.99992023
40MP0000372_irregular_coat_pigmentation1.99839317
41MP0003300_gastrointestinal_ulcer1.93372932
42MP0003705_abnormal_hypodermis_morpholog1.91940252
43MP0005387_immune_system_phenotype1.90898343
44MP0001790_abnormal_immune_system1.90898343
45MP0005171_absent_coat_pigmentation1.88420376
46MP0004272_abnormal_basement_membrane1.86924614
47MP0002736_abnormal_nociception_after1.81146531
48MP0002735_abnormal_chemical_nociception1.80454076
49MP0008877_abnormal_DNA_methylation1.77326871
50MP0002396_abnormal_hematopoietic_system1.76506474
51MP0005023_abnormal_wound_healing1.73712815
52MP0003075_altered_response_to1.70423005
53MP0003191_abnormal_cellular_cholesterol1.70410287
54MP0003566_abnormal_cell_adhesion1.69724886
55MP0003329_amyloid_beta_deposits1.69539891
56MP0005451_abnormal_body_composition1.66449648
57MP0003806_abnormal_nucleotide_metabolis1.66402742
58MP0004782_abnormal_surfactant_physiolog1.65640985
59MP0005084_abnormal_gallbladder_morpholo1.65182992
60MP0003942_abnormal_urinary_system1.63419548
61MP0004147_increased_porphyrin_level1.59540208
62MP0003436_decreased_susceptibility_to1.58868889
63MP0002249_abnormal_larynx_morphology1.55166032
64MP0002095_abnormal_skin_pigmentation1.54235254
65MP0005000_abnormal_immune_tolerance1.51106946
66MP0002998_abnormal_bone_remodeling1.47625129
67MP0002332_abnormal_exercise_endurance1.45932182
68MP0003448_altered_tumor_morphology1.44302941
69MP0001542_abnormal_bone_strength1.44135772
70MP0005167_abnormal_blood-brain_barrier1.39331057
71MP0005197_abnormal_uvea_morphology1.39327299
72MP0004808_abnormal_hematopoietic_stem1.38363396
73MP0000681_abnormal_thyroid_gland1.37839012
74MP0001853_heart_inflammation1.37472323
75MP0009764_decreased_sensitivity_to1.36076668
76MP0002419_abnormal_innate_immunity1.34775068
77MP0009046_muscle_twitch1.33839996
78MP0000049_abnormal_middle_ear1.33822185
79MP0002132_abnormal_respiratory_system1.32677474
80MP0003279_aneurysm1.32515541
81MP0002938_white_spotting1.30833908
82MP0002009_preneoplasia1.30111951
83MP0002452_abnormal_antigen_presenting1.27459398
84MP0001968_abnormal_touch/_nociception1.27184059
85MP0002282_abnormal_trachea_morphology1.26889378
86MP0005075_abnormal_melanosome_morpholog1.26108351
87MP0000858_altered_metastatic_potential1.25899787
88MP0000371_diluted_coat_color1.22479351
89MP0004947_skin_inflammation1.21755853
90MP0003077_abnormal_cell_cycle1.20057477
91MP0002160_abnormal_reproductive_system1.19301226
92MP0005174_abnormal_tail_pigmentation1.18446996
93MP0001835_abnormal_antigen_presentation1.17402358
94MP0000920_abnormal_myelination1.17239839
95MP0005671_abnormal_response_to1.16940459
96MP0002896_abnormal_bone_mineralization1.14305173
97MP0000516_abnormal_urinary_system1.13680018
98MP0005367_renal/urinary_system_phenotyp1.13680018
99MP0005164_abnormal_response_to1.12332703
100MP0005503_abnormal_tendon_morphology1.11648926
101MP0003634_abnormal_glial_cell1.11174522
102MP0005165_increased_susceptibility_to1.11093856
103MP0001177_atelectasis1.10987317
104MP0001849_ear_inflammation1.10296485
105MP0001958_emphysema1.09704818
106MP0001764_abnormal_homeostasis1.06450562
107MP0005025_abnormal_response_to1.05952944
108MP0003786_premature_aging1.05472747
109MP0002723_abnormal_immune_serum1.04403098
110MP0001533_abnormal_skeleton_physiology1.03969520
111MP0001348_abnormal_lacrimal_gland1.03278556
112MP0001905_abnormal_dopamine_level1.00990149
113MP0002572_abnormal_emotion/affect_behav1.00553257
114MP0004142_abnormal_muscle_tone0.99765136
115MP0001119_abnormal_female_reproductive0.98942487
116MP0002163_abnormal_gland_morphology0.97699102
117MP0000490_abnormal_crypts_of0.96465685
118MP0001800_abnormal_humoral_immune0.96276631
119MP0000767_abnormal_smooth_muscle0.95992044
120MP0008469_abnormal_protein_level0.94470530
121MP0001299_abnormal_eye_distance/0.94341937
122MP0002638_abnormal_pupillary_reflex0.93219146
123MP0001919_abnormal_reproductive_system0.93141853
124MP0005310_abnormal_salivary_gland0.92650624
125MP0005645_abnormal_hypothalamus_physiol0.92560763
126MP0001186_pigmentation_phenotype0.92334090
127MP0002822_catalepsy0.91659082
128MP0009745_abnormal_behavioral_response0.91438346
129MP0001845_abnormal_inflammatory_respons0.90577353
130MP0008932_abnormal_embryonic_tissue0.90486150
131MP0003111_abnormal_nucleus_morphology0.90249461
132MP0002751_abnormal_autonomic_nervous0.89700257
133MP0002148_abnormal_hypersensitivity_rea0.89493455
134MP0008874_decreased_physiological_sensi0.89352787
135MP0008260_abnormal_autophagy0.88468050
136MP0000631_abnormal_neuroendocrine_gland0.88414459
137MP0006276_abnormal_autonomic_nervous0.86715729
138MP0003690_abnormal_glial_cell0.84961777
139MP0005166_decreased_susceptibility_to0.84258268
140MP0009250_abnormal_appendicular_skeleto0.84187096
141MP0004484_altered_response_of0.84134490
142MP0005389_reproductive_system_phenotype0.84091142
143MP0002075_abnormal_coat/hair_pigmentati0.83106092
144MP0002089_abnormal_postnatal_growth/wei0.82557639
145MP0001243_abnormal_dermal_layer0.82049088
146MP0004134_abnormal_chest_morphology0.81580885
147MP0003693_abnormal_embryo_hatching0.80514025
148MP0000733_abnormal_muscle_development0.80120934
149MP0003385_abnormal_body_wall0.79902090
150MP0005275_abnormal_skin_tensile0.79427700
151MP0002109_abnormal_limb_morphology0.78489735
152MP0005193_abnormal_anterior_eye0.76272691
153MP0005595_abnormal_vascular_smooth0.75617836
154MP0009785_altered_susceptibility_to0.75396992
155MP0003938_abnormal_ear_development0.74740157
156MP0000750_abnormal_muscle_regeneration0.74128735
157MP0002177_abnormal_outer_ear0.73579197
158MP0003315_abnormal_perineum_morphology0.73212028
159MP0000358_abnormal_cell_content/0.72698386
160MP0003718_maternal_effect0.72511895
161MP0001915_intracranial_hemorrhage0.72419336
162MP0010386_abnormal_urinary_bladder0.71280097
163MP0002254_reproductive_system_inflammat0.70690655
164MP0005360_urolithiasis0.68681316
165MP0005621_abnormal_cell_physiology0.68583896
166MP0002063_abnormal_learning/memory/cond0.68479901
167MP0010030_abnormal_orbit_morphology0.68055270
168MP0009763_increased_sensitivity_to0.67315601
169MP0010368_abnormal_lymphatic_system0.67033285
170MP0002067_abnormal_sensory_capabilities0.67001228
171MP0002060_abnormal_skin_morphology0.66557071
172* MP0001963_abnormal_hearing_physiology0.66124441
173MP0001216_abnormal_epidermal_layer0.66021147
174MP0001286_abnormal_eye_development0.65852961
175MP0000538_abnormal_urinary_bladder0.65842767
176MP0001486_abnormal_startle_reflex0.65644166
177MP0002734_abnormal_mechanical_nocicepti0.65319607
178MP0003763_abnormal_thymus_physiology0.65219902
179MP0005508_abnormal_skeleton_morphology0.64897329
180MP0002295_abnormal_pulmonary_circulatio0.64843229
181MP0000249_abnormal_blood_vessel0.64126584
182MP0003183_abnormal_peptide_metabolism0.63771740
183MP0004924_abnormal_behavior0.62918580
184MP0005386_behavior/neurological_phenoty0.62918580
185MP0005390_skeleton_phenotype0.62471173
186MP0002420_abnormal_adaptive_immunity0.62367282
187MP0001819_abnormal_immune_cell0.62143054
188MP0002090_abnormal_vision0.61872776
189MP0003221_abnormal_cardiomyocyte_apopto0.61763548
190MP0002277_abnormal_respiratory_mucosa0.61082398
191MP0006054_spinal_hemorrhage0.60957187
192MP0002272_abnormal_nervous_system0.60639546

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of liposaccharide metabolism (HP:0010968)6.86248913
2Abnormality of glycosphingolipid metabolism (HP:0004343)6.86248913
3Abnormality of glycolipid metabolism (HP:0010969)6.86248913
4Abnormal hair whorl (HP:0010721)4.67735813
5Neurofibrillary tangles (HP:0002185)4.61632758
6True hermaphroditism (HP:0010459)4.28549809
7Premature rupture of membranes (HP:0001788)4.06203366
8Dysostosis multiplex (HP:0000943)3.92975564
9Atrophic scars (HP:0001075)3.84532672
10Loss of speech (HP:0002371)3.76176494
11Vacuolated lymphocytes (HP:0001922)3.73895816
12Systemic lupus erythematosus (HP:0002725)3.68785138
13Nuclear cataract (HP:0100018)3.64742085
14Chronic hepatic failure (HP:0100626)3.58360801
15Hypothermia (HP:0002045)3.45443593
16Cerebral inclusion bodies (HP:0100314)3.42795461
17Type I transferrin isoform profile (HP:0003642)3.42591051
18Abnormality of polysaccharide metabolism (HP:0011012)3.27237530
19Abnormality of glycosaminoglycan metabolism (HP:0004371)3.27237530
20Abnormality of mucopolysaccharide metabolism (HP:0011020)3.27237530
21Prolonged neonatal jaundice (HP:0006579)3.25605344
22Gastrointestinal stroma tumor (HP:0100723)3.25422226
23Apathy (HP:0000741)3.24034922
24Urinary glycosaminoglycan excretion (HP:0003541)3.23480583
25Mucopolysacchariduria (HP:0008155)3.23480583
26Pancreatic fibrosis (HP:0100732)3.18370570
27Febrile seizures (HP:0002373)3.15645079
28IgA deficiency (HP:0002720)3.13875108
29Chromosomal breakage induced by crosslinking agents (HP:0003221)3.11638142
30Protrusio acetabuli (HP:0003179)3.06305752
31Disinhibition (HP:0000734)3.05607056
32Chromsome breakage (HP:0040012)3.03568952
33Axonal loss (HP:0003447)3.01961640
34Vertebral compression fractures (HP:0002953)3.01428671
35Diminished motivation (HP:0000745)3.00146035
36Mutism (HP:0002300)2.99279522
37Aplastic anemia (HP:0001915)2.96956859
38Nephroblastoma (Wilms tumor) (HP:0002667)2.92321888
39Embryonal renal neoplasm (HP:0011794)2.85029395
40Abnormal lung lobation (HP:0002101)2.82048091
41Myocardial infarction (HP:0001658)2.77581473
42Abnormality of incisor morphology (HP:0011063)2.76380716
43Natal tooth (HP:0000695)2.72489239
44Irregular epiphyses (HP:0010582)2.72119714
45Increased cerebral lipofuscin (HP:0011813)2.71420073
46Upper motor neuron abnormality (HP:0002127)2.71173550
47Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.62454500
48Emphysema (HP:0002097)2.61851518
49Birth length less than 3rd percentile (HP:0003561)2.61128879
50Supranuclear gaze palsy (HP:0000605)2.57509773
51Abnormality of macrophages (HP:0004311)2.56897468
52Neuronal loss in central nervous system (HP:0002529)2.52636614
53Cervical subluxation (HP:0003308)2.51836455
54Hypoplastic left heart (HP:0004383)2.49790644
55Upper limb amyotrophy (HP:0009129)2.48609997
56Distal upper limb amyotrophy (HP:0007149)2.48609997
57Type 2 muscle fiber atrophy (HP:0003554)2.48536591
58Spinal cord lesions (HP:0100561)2.44332658
59Syringomyelia (HP:0003396)2.44332658
60Abnormality of the columella (HP:0009929)2.43724661
61Hand muscle atrophy (HP:0009130)2.42011195
62Spondylolisthesis (HP:0003302)2.40700247
63Patchy hypopigmentation of hair (HP:0011365)2.40660349
64Bladder diverticulum (HP:0000015)2.38926164
65Postaxial foot polydactyly (HP:0001830)2.37165882
66Thick nail (HP:0001805)2.35817626
67Pancreatic cysts (HP:0001737)2.33793425
68Nephrogenic diabetes insipidus (HP:0009806)2.33404344
69Optic nerve coloboma (HP:0000588)2.31797221
70Metaphyseal irregularity (HP:0003025)2.30774709
71Tubulointerstitial nephritis (HP:0001970)2.28753712
72Abnormal protein glycosylation (HP:0012346)2.28497120
73Abnormal glycosylation (HP:0012345)2.28497120
74Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.28497120
75Abnormal protein N-linked glycosylation (HP:0012347)2.28497120
76Thin bony cortex (HP:0002753)2.24954231
773-Methylglutaconic aciduria (HP:0003535)2.24577750
7811 pairs of ribs (HP:0000878)2.24118288
79Onycholysis (HP:0001806)2.23737043
80Acute necrotizing encephalopathy (HP:0006965)2.22096573
81Medial flaring of the eyebrow (HP:0010747)2.20980405
82Glomerulonephritis (HP:0000099)2.20364323
83Reduced antithrombin III activity (HP:0001976)2.19653396
84Osteolytic defects of the hand bones (HP:0009699)2.16982860
85Osteolytic defects of the phalanges of the hand (HP:0009771)2.16982860
86Occipital encephalocele (HP:0002085)2.16057606
87Abnormal mitochondria in muscle tissue (HP:0008316)2.15236902
88Nephronophthisis (HP:0000090)2.15158355
89Progressive neurologic deterioration (HP:0002344)2.14209381
90Thoracolumbar scoliosis (HP:0002944)2.14164120
91Congenital primary aphakia (HP:0007707)2.13619802
92Wormian bones (HP:0002645)2.13516749
93White forelock (HP:0002211)2.11672026
94Hyperacusis (HP:0010780)2.10506173
95Ankle contracture (HP:0006466)2.10487163
96Gait imbalance (HP:0002141)2.10154021
97Preaxial hand polydactyly (HP:0001177)2.09391898
98Hypoplastic heart (HP:0001961)2.08708303
99Atonic seizures (HP:0010819)2.08635088
100Thyroid-stimulating hormone excess (HP:0002925)2.07311925
101Abnormality of midbrain morphology (HP:0002418)2.07045367
102Molar tooth sign on MRI (HP:0002419)2.07045367
103Neuroendocrine neoplasm (HP:0100634)2.05423536
104Focal motor seizures (HP:0011153)2.05087843
105Fibular hypoplasia (HP:0003038)2.02483579
106Epileptic encephalopathy (HP:0200134)2.01286980
107Femoral bowing (HP:0002980)2.00333668
108Milia (HP:0001056)2.00212155
109Poor coordination (HP:0002370)1.99243754
110Alveolar cell carcinoma (HP:0006519)1.98610595
111Abnormality of the prostate (HP:0008775)1.97780862
112Insomnia (HP:0100785)1.96431355
113Increased CSF lactate (HP:0002490)1.96418128
114Meckel diverticulum (HP:0002245)1.96313762
115Achilles tendon contracture (HP:0001771)1.94816729
116Microvesicular hepatic steatosis (HP:0001414)1.93695768
117Intrahepatic cholestasis (HP:0001406)1.93305357
118Progressive macrocephaly (HP:0004481)1.92084174
119Tibial bowing (HP:0002982)1.91768220
120Aortic dissection (HP:0002647)1.91765497
121Abnormality of male internal genitalia (HP:0000022)1.89749260
122Pheochromocytoma (HP:0002666)1.89686554
123Heterochromia iridis (HP:0001100)1.89483840
124Muscle fiber atrophy (HP:0100295)1.88213607
125Abnormality of the ileum (HP:0001549)1.85894261
126Personality changes (HP:0000751)1.85567660
127Aplasia/Hypoplasia of the tongue (HP:0010295)1.84890383
128Dementia (HP:0000726)1.84400226
129Asymmetric septal hypertrophy (HP:0001670)1.83635579
130Abnormality of the labia minora (HP:0012880)1.83546817
131Vascular tortuosity (HP:0004948)1.82267286
132Mitochondrial inheritance (HP:0001427)1.81046315
133Hyperventilation (HP:0002883)1.80800688
134Interstitial pulmonary disease (HP:0006530)1.80690607
135Poor head control (HP:0002421)1.79830785
136Abnormality of the incisor (HP:0000676)1.78644964
137Hepatocellular necrosis (HP:0001404)1.77902765
138Arterial tortuosity (HP:0005116)1.77205272
139Entropion (HP:0000621)1.76209153
140Cholecystitis (HP:0001082)1.76135332
141Abnormal gallbladder physiology (HP:0012438)1.76135332
142Mediastinal lymphadenopathy (HP:0100721)1.75862607
143Autoimmune thrombocytopenia (HP:0001973)1.75561220
144Protuberant abdomen (HP:0001538)1.75456277
145Protruding tongue (HP:0010808)1.75279326
146Spinal rigidity (HP:0003306)1.75198581
147Renal cortical cysts (HP:0000803)1.74984168
148Clubbing of toes (HP:0100760)1.74832863
149Poor suck (HP:0002033)1.74800523
150Abnormality of the preputium (HP:0100587)1.74505103
151Abnormality of the renal medulla (HP:0100957)1.73957763
152Restrictive lung disease (HP:0002091)1.73853056
153Abnormality of the heme biosynthetic pathway (HP:0010472)1.73427759
154Ovoid vertebral bodies (HP:0003300)1.73264027
155Retinal atrophy (HP:0001105)1.72942960
156Joint stiffness (HP:0001387)1.71680584
157Acrocyanosis (HP:0001063)1.71666252
158Neonatal short-limb short stature (HP:0008921)1.71654597
159Tetraparesis (HP:0002273)1.71494151
160Metaphyseal dysplasia (HP:0100255)1.71433739
161Elbow flexion contracture (HP:0002987)1.71257484
162Long clavicles (HP:0000890)1.70842557
163Zonular cataract (HP:0010920)1.70816472
164Genital tract atresia (HP:0001827)1.70540949
165Cupped ribs (HP:0000887)1.70041854
166Thrombocytosis (HP:0001894)1.69890526
167Fragile skin (HP:0001030)1.69781050
168Hypoplasia of the fovea (HP:0007750)1.69370582
169Aplasia/Hypoplasia of the fovea (HP:0008060)1.69370582
170Myelodysplasia (HP:0002863)1.69234142
171Absent epiphyses (HP:0010577)1.68264377
172Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.68264377
173Short nail (HP:0001799)1.67963205
174Scanning speech (HP:0002168)1.67834989
175Abnormality of the Achilles tendon (HP:0005109)1.67436710
176Fair hair (HP:0002286)1.66459140
177Short middle phalanx of the 5th finger (HP:0004220)1.66454708
178Complement deficiency (HP:0004431)1.66298473
179Abnormality of the intervertebral disk (HP:0005108)1.66157957
180Nausea (HP:0002018)1.65887964
181Abnormality of the periventricular white matter (HP:0002518)1.64613371
182Bone marrow hypocellularity (HP:0005528)1.64353456
183Mitral stenosis (HP:0001718)1.64114407
184Cerebral aneurysm (HP:0004944)1.63754901
185Increased serum lactate (HP:0002151)1.63573309
186Vaginal atresia (HP:0000148)1.63262918
187Irregular vertebral endplates (HP:0003301)1.63229578
188Asymmetry of the thorax (HP:0001555)1.63050317
189Increased neuronal autofluorescent lipopigment (HP:0002074)1.62214009
190Renal duplication (HP:0000075)1.62042320
191Hypoalphalipoproteinemia (HP:0003233)1.61807837
192Growth hormone deficiency (HP:0000824)1.61365019
193Abnormality of the phalanges of the 5th finger (HP:0004213)1.61135644
194Follicular hyperkeratosis (HP:0007502)1.60679680
195Skin nodule (HP:0200036)1.60347473
196Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)1.58853684
197Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.58661492
198Abnormality of alanine metabolism (HP:0010916)1.58661492
199Hyperalaninemia (HP:0003348)1.58661492
200Retrobulbar optic neuritis (HP:0100654)1.58229253

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MKNK25.36643897
2MKNK14.46496687
3CASK4.31181500
4DDR24.28613657
5NME23.95697459
6TNIK3.32299018
7MOS2.87201256
8PDGFRA2.72251938
9ARAF2.52175670
10MAP2K72.45590887
11MAP3K122.32567813
12ERBB32.31339747
13SIK32.29684468
14STK162.21132803
15TESK12.07964425
16TBK12.01449021
17LIMK11.99228289
18AKT31.97845236
19CCNB11.97807407
20TGFBR21.95598001
21TAOK21.94629080
22SGK21.90813639
23TSSK61.86162817
24CDK81.84398138
25YES11.80837392
26LATS21.76780146
27EPHB21.70626534
28EIF2AK11.69389535
29ZAK1.68516302
30PDK21.64416800
31PLK21.64312105
32PLK41.56408570
33TXK1.55004930
34MAP3K131.51686703
35MST1R1.51385450
36SRPK11.47416772
37PRPF4B1.47380977
38PBK1.47273662
39ABL21.47092438
40FGR1.46544709
41BRSK21.45835671
42MET1.39314615
43MATK1.37646553
44DAPK31.35978049
45RIPK11.34708080
46MAP3K141.33566630
47EIF2AK21.33481621
48IRAK41.33115018
49BMPR21.32991417
50CDC42BPA1.29670735
51PTK21.28759340
52SGK31.26821986
53MAPK131.26371673
54BLK1.25801801
55PIK3CA1.24562663
56IKBKB1.23122311
57MAP3K91.22778742
58ERBB41.19977969
59EIF2AK31.19494183
60MYLK1.19361252
61FRK1.19080823
62TYK21.18118974
63BMPR1B1.13763655
64WEE11.09571810
65ERN11.07201951
66ICK1.07093454
67PAK41.06715582
68TEC1.05669206
69SIK21.05092100
70VRK11.05003872
71PLK31.04563561
72JAK10.99954337
73MUSK0.99049571
74RPS6KB10.97894437
75NEK90.97016773
76BUB10.96332895
77SGK2230.94017196
78SGK4940.94017196
79NTRK10.92634790
80NEK60.92390658
81PKN10.92002981
82ADRBK20.90490943
83IRAK30.89345167
84BRSK10.87072178
85TESK20.86206805
86CLK10.83491877
87MARK10.82224789
88MAP2K60.81762786
89DAPK10.81676255
90MAP3K50.81387634
91TYRO30.80552266
92LMTK20.77831298
93ATR0.77674728
94TRPM70.77467790
95CSNK1A1L0.76476205
96MAPKAPK50.75824490
97TNK20.73094160
98CDK30.72580708
99ROCK20.71853907
100ACVR1B0.71078541
101CDK150.70811803
102CDC70.70321765
103MAP3K40.69227621
104IKBKE0.68199091
105PIM20.68074965
106CDK180.67466831
107CDK140.65620461
108CDK11A0.64776043
109STK240.64570983
110MELK0.64448643
111RPS6KL10.63249268
112RPS6KC10.63249268
113BRAF0.63009456
114RPS6KA60.62926108
115PRKCG0.61803544
116OBSCN0.61502055
117MAP3K30.60847752
118PAK20.60564598
119PAK60.59355714
120NUAK10.59262133
121MAPK110.58824485
122STK100.56643183
123TTN0.54203791
124AURKA0.53721169
125CDK190.53686914
126PLK10.51877565
127BRD40.50467815
128KSR10.49515618
129MAPK40.49011458
130PDK30.48741715
131PDK40.48741715
132CSNK1G30.47978036
133PDGFRB0.47793153
134KIT0.47388377
135GRK70.44578589
136CAMK2G0.44265670
137GSK3A0.43905840
138TGFBR10.43460732
139CSNK2A10.42652474
140NME10.42377541
141CSNK1G20.42371555
142PINK10.41665923
143BCR0.41436368
144MAP3K60.40008606
145BTK0.39672994
146PRKCE0.39606212
147INSR0.39545596
148STK38L0.38238350
149MAP3K80.37466134
150PASK0.37445026
151NEK10.37075636
152KSR20.36524585
153PIM10.35642954
154AKT20.35262734
155SYK0.33952780
156CHUK0.33186599
157ROCK10.32763924
158SGK10.30109499
159PAK10.29713105
160MAP3K110.29433540
161CHEK20.29167229
162JAK30.28916510
163CAMK40.28802360
164ATM0.28277381
165RPS6KA20.28204119
166FLT30.28032215
167ABL10.26479511
168MST40.26470723
169CSF1R0.26119583
170PRKCH0.25936446
171GRK10.25920744
172CDK70.25909002
173PRKACB0.24351173
174MAPK70.23768290
175FGFR40.23697676
176CDK90.23012958
177CDK50.22886297

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030303.60882239
2Mismatch repair_Homo sapiens_hsa034303.58727809
3Base excision repair_Homo sapiens_hsa034103.43192897
4Other glycan degradation_Homo sapiens_hsa005113.12909442
5Homologous recombination_Homo sapiens_hsa034403.06880895
6Lysosome_Homo sapiens_hsa041422.95117295
7Proteasome_Homo sapiens_hsa030502.76759387
8Glycosaminoglycan degradation_Homo sapiens_hsa005312.75788259
9Nucleotide excision repair_Homo sapiens_hsa034202.63176412
10RNA polymerase_Homo sapiens_hsa030202.38377254
11Toll-like receptor signaling pathway_Homo sapiens_hsa046202.36932111
12Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.30574647
13Fanconi anemia pathway_Homo sapiens_hsa034602.23889997
14Nicotine addiction_Homo sapiens_hsa050332.02726832
15Basal transcription factors_Homo sapiens_hsa030222.01415812
16NF-kappa B signaling pathway_Homo sapiens_hsa040641.96767409
17Non-homologous end-joining_Homo sapiens_hsa034501.96359563
18Cell cycle_Homo sapiens_hsa041101.90439306
19Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.90150195
20Pyrimidine metabolism_Homo sapiens_hsa002401.89578228
21TNF signaling pathway_Homo sapiens_hsa046681.88644448
22Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.84542104
23Systemic lupus erythematosus_Homo sapiens_hsa053221.83943709
24Graft-versus-host disease_Homo sapiens_hsa053321.82263240
25RNA degradation_Homo sapiens_hsa030181.81276688
26Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.77165633
27Pertussis_Homo sapiens_hsa051331.75350385
28Salmonella infection_Homo sapiens_hsa051321.74219595
29Staphylococcus aureus infection_Homo sapiens_hsa051501.71540388
30Toxoplasmosis_Homo sapiens_hsa051451.70106745
31Spliceosome_Homo sapiens_hsa030401.69180169
32Protein export_Homo sapiens_hsa030601.67336216
33Osteoclast differentiation_Homo sapiens_hsa043801.64920938
34Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.64196447
35Viral myocarditis_Homo sapiens_hsa054161.63504088
36Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.62909174
37Tuberculosis_Homo sapiens_hsa051521.62493306
38Leishmaniasis_Homo sapiens_hsa051401.61731844
39Malaria_Homo sapiens_hsa051441.60876137
40Purine metabolism_Homo sapiens_hsa002301.58455661
41Prion diseases_Homo sapiens_hsa050201.58084370
42SNARE interactions in vesicular transport_Homo sapiens_hsa041301.57854598
43Oxidative phosphorylation_Homo sapiens_hsa001901.57093384
44Bladder cancer_Homo sapiens_hsa052191.52272841
45Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.51400626
46Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.47027119
47African trypanosomiasis_Homo sapiens_hsa051431.45769600
48Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.44222730
49Parkinsons disease_Homo sapiens_hsa050121.43110261
50Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.42768307
51Steroid biosynthesis_Homo sapiens_hsa001001.36968558
52Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.35810259
53Shigellosis_Homo sapiens_hsa051311.35687397
54Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.35225988
55Collecting duct acid secretion_Homo sapiens_hsa049661.32681882
56RNA transport_Homo sapiens_hsa030131.27928589
57One carbon pool by folate_Homo sapiens_hsa006701.25901981
58Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.24711004
59Huntingtons disease_Homo sapiens_hsa050161.22921713
60Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.20611612
61Apoptosis_Homo sapiens_hsa042101.17368688
62AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.15261831
63Antigen processing and presentation_Homo sapiens_hsa046121.13357215
64Vibrio cholerae infection_Homo sapiens_hsa051101.09647471
65Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.09560592
66Complement and coagulation cascades_Homo sapiens_hsa046101.09416229
67Sphingolipid metabolism_Homo sapiens_hsa006001.04306898
68Hepatitis C_Homo sapiens_hsa051601.02723472
69Amoebiasis_Homo sapiens_hsa051461.01470711
70Olfactory transduction_Homo sapiens_hsa047401.00125774
71Small cell lung cancer_Homo sapiens_hsa052220.98479440
72Phagosome_Homo sapiens_hsa041450.96823415
73Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.96293282
74B cell receptor signaling pathway_Homo sapiens_hsa046620.94858144
75Primary bile acid biosynthesis_Homo sapiens_hsa001200.94494036
76Synaptic vesicle cycle_Homo sapiens_hsa047210.93550597
77Herpes simplex infection_Homo sapiens_hsa051680.93468032
78N-Glycan biosynthesis_Homo sapiens_hsa005100.93343151
79Taste transduction_Homo sapiens_hsa047420.91482416
80Thyroid cancer_Homo sapiens_hsa052160.91427254
81Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.88485780
82Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.86518866
83Measles_Homo sapiens_hsa051620.85995607
84Caffeine metabolism_Homo sapiens_hsa002320.85049019
85Autoimmune thyroid disease_Homo sapiens_hsa053200.82284575
86Arachidonic acid metabolism_Homo sapiens_hsa005900.82091242
87Type I diabetes mellitus_Homo sapiens_hsa049400.80869397
88Rheumatoid arthritis_Homo sapiens_hsa053230.79846250
89Epstein-Barr virus infection_Homo sapiens_hsa051690.79525135
90ECM-receptor interaction_Homo sapiens_hsa045120.79205807
91Proteoglycans in cancer_Homo sapiens_hsa052050.78891791
92NOD-like receptor signaling pathway_Homo sapiens_hsa046210.78412024
93RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.76835195
94Alzheimers disease_Homo sapiens_hsa050100.76718995
95Focal adhesion_Homo sapiens_hsa045100.76574462
96Viral carcinogenesis_Homo sapiens_hsa052030.75353671
97Pentose phosphate pathway_Homo sapiens_hsa000300.72386277
98Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.70602393
99Renin-angiotensin system_Homo sapiens_hsa046140.69405948
100Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.68816729
101Phototransduction_Homo sapiens_hsa047440.68781183
102Allograft rejection_Homo sapiens_hsa053300.68096394
103Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.65820550
104Intestinal immune network for IgA production_Homo sapiens_hsa046720.65044571
105p53 signaling pathway_Homo sapiens_hsa041150.62270708
106Melanoma_Homo sapiens_hsa052180.60960201
107Galactose metabolism_Homo sapiens_hsa000520.59560435
108Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.59476043
109Influenza A_Homo sapiens_hsa051640.59333308
110Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.59048449
111Legionellosis_Homo sapiens_hsa051340.58647287
112Neurotrophin signaling pathway_Homo sapiens_hsa047220.58267768
113Central carbon metabolism in cancer_Homo sapiens_hsa052300.58251420
114Alcoholism_Homo sapiens_hsa050340.56359026
115mRNA surveillance pathway_Homo sapiens_hsa030150.55746480
116Morphine addiction_Homo sapiens_hsa050320.54526461
117Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.53291899
118Asthma_Homo sapiens_hsa053100.52025732
119Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.51935331
120Transcriptional misregulation in cancer_Homo sapiens_hsa052020.50971025
121Prolactin signaling pathway_Homo sapiens_hsa049170.50776156
122Sphingolipid signaling pathway_Homo sapiens_hsa040710.50066696
123Serotonergic synapse_Homo sapiens_hsa047260.50044938
124Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.48445811
125Retinol metabolism_Homo sapiens_hsa008300.47870696
126Calcium signaling pathway_Homo sapiens_hsa040200.47153453
127Endocytosis_Homo sapiens_hsa041440.45950559
128Circadian entrainment_Homo sapiens_hsa047130.45776338
129Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.44508814
1302-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.44015739
131PPAR signaling pathway_Homo sapiens_hsa033200.42414879
132Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.42308599
133Metabolic pathways_Homo sapiens_hsa011000.41318478
134HTLV-I infection_Homo sapiens_hsa051660.40670585
135Glutathione metabolism_Homo sapiens_hsa004800.40573001
136Pancreatic cancer_Homo sapiens_hsa052120.39883549
137Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.39853064
138Chronic myeloid leukemia_Homo sapiens_hsa052200.39379499
139HIF-1 signaling pathway_Homo sapiens_hsa040660.38031026
140Fructose and mannose metabolism_Homo sapiens_hsa000510.37414728
141Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.37249259
142Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.36435020
143Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.35404469
144MicroRNAs in cancer_Homo sapiens_hsa052060.35289748
145Adipocytokine signaling pathway_Homo sapiens_hsa049200.34918927
146Chemokine signaling pathway_Homo sapiens_hsa040620.34579951
147GABAergic synapse_Homo sapiens_hsa047270.32657655
148Biosynthesis of amino acids_Homo sapiens_hsa012300.31803836
149Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.31127410
150Cysteine and methionine metabolism_Homo sapiens_hsa002700.30738615
151Sulfur metabolism_Homo sapiens_hsa009200.30031752
152Hematopoietic cell lineage_Homo sapiens_hsa046400.29723362
153Fatty acid elongation_Homo sapiens_hsa000620.29429781
154Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.29253953
155Hepatitis B_Homo sapiens_hsa051610.27204103
156Long-term depression_Homo sapiens_hsa047300.26475417
157Adherens junction_Homo sapiens_hsa045200.26301877
158Oocyte meiosis_Homo sapiens_hsa041140.26244122
159Jak-STAT signaling pathway_Homo sapiens_hsa046300.24568969
160Primary immunodeficiency_Homo sapiens_hsa053400.22807361
161Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.21743678
162Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.19596885
163Drug metabolism - other enzymes_Homo sapiens_hsa009830.17724716
164Pyruvate metabolism_Homo sapiens_hsa006200.17083380
165PI3K-Akt signaling pathway_Homo sapiens_hsa041510.16824342

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