CLN5

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 is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1tryptophan catabolic process (GO:0006569)5.34085888
2indole-containing compound catabolic process (GO:0042436)5.34085888
3indolalkylamine catabolic process (GO:0046218)5.34085888
4kynurenine metabolic process (GO:0070189)4.91993080
5indolalkylamine metabolic process (GO:0006586)4.79328193
6modulation by symbiont of host defense response (GO:0052031)4.78513518
7modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.78513518
8modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.78513518
9positive regulation by organism of defense response of other organism involved in symbiotic interact4.78513518
10modulation by symbiont of host immune response (GO:0052553)4.78513518
11positive regulation by symbiont of host defense response (GO:0052509)4.78513518
12antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.72920016
13tryptophan metabolic process (GO:0006568)4.56141216
14neutrophil activation involved in immune response (GO:0002283)4.47728354
15cilium or flagellum-dependent cell motility (GO:0001539)4.43392278
16regulation of interferon-beta biosynthetic process (GO:0045357)4.33784750
17positive regulation of interferon-alpha production (GO:0032727)4.27416372
18monoubiquitinated protein deubiquitination (GO:0035520)4.21636978
19positive regulation of developmental pigmentation (GO:0048087)4.13883760
20regulation of interferon-alpha production (GO:0032647)4.06368563
21regulation of pigment cell differentiation (GO:0050932)4.01519092
22protein K11-linked deubiquitination (GO:0035871)3.99080415
23regulation of hippo signaling (GO:0035330)3.98493838
24detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.97731967
25interkinetic nuclear migration (GO:0022027)3.87258045
26snRNA transcription (GO:0009301)3.84421771
27protein K48-linked deubiquitination (GO:0071108)3.82130612
28antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.81809492
29antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.81809492
30establishment of protein localization to Golgi (GO:0072600)3.75568733
31neural tube formation (GO:0001841)3.74191027
32positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.74051260
33immunoglobulin mediated immune response (GO:0016064)3.64884812
34regulation of establishment of cell polarity (GO:2000114)3.64061356
35response to peptidoglycan (GO:0032494)3.60618355
36indole-containing compound metabolic process (GO:0042430)3.56105799
37lipid translocation (GO:0034204)3.53841024
38phospholipid translocation (GO:0045332)3.53841024
39macrophage activation involved in immune response (GO:0002281)3.52763683
40detection of light stimulus involved in sensory perception (GO:0050962)3.49518821
41detection of light stimulus involved in visual perception (GO:0050908)3.49518821
42fucose catabolic process (GO:0019317)3.49328406
43L-fucose metabolic process (GO:0042354)3.49328406
44L-fucose catabolic process (GO:0042355)3.49328406
45behavioral response to nicotine (GO:0035095)3.49253051
46negative regulation of translation, ncRNA-mediated (GO:0040033)3.47202448
47regulation of translation, ncRNA-mediated (GO:0045974)3.47202448
48negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.47202448
49antigen processing and presentation of endogenous antigen (GO:0019883)3.45075997
50cellular response to ethanol (GO:0071361)3.44163209
51respiratory burst (GO:0045730)3.35882973
52positive regulation of chemokine biosynthetic process (GO:0045080)3.26043807
53NAD biosynthetic process (GO:0009435)3.24689673
54response to host immune response (GO:0052572)3.24133004
55response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.24133004
56cellular ketone body metabolic process (GO:0046950)3.22773499
57regulation of gene silencing by RNA (GO:0060966)3.21829766
58regulation of posttranscriptional gene silencing (GO:0060147)3.21829766
59regulation of gene silencing by miRNA (GO:0060964)3.21829766
60reflex (GO:0060004)3.21026499
61regulation of establishment or maintenance of cell polarity (GO:0032878)3.19523362
62positive regulation of interferon-beta production (GO:0032728)3.17406151
63photoreceptor cell maintenance (GO:0045494)3.16461791
64cellular biogenic amine catabolic process (GO:0042402)3.15045661
65amine catabolic process (GO:0009310)3.15045661
66thyroid hormone metabolic process (GO:0042403)3.15031931
67protein K63-linked deubiquitination (GO:0070536)3.14036234
68low-density lipoprotein particle clearance (GO:0034383)3.11318977
69lipopolysaccharide-mediated signaling pathway (GO:0031663)3.09992100
70oxidative demethylation (GO:0070989)3.06710210
71regulation of sarcomere organization (GO:0060297)3.04931885
72positive regulation of heterotypic cell-cell adhesion (GO:0034116)3.02625483
73granulocyte activation (GO:0036230)3.01661627
74benzene-containing compound metabolic process (GO:0042537)3.01283285
75hydrogen peroxide biosynthetic process (GO:0050665)3.00896795
76cellular response to sterol (GO:0036315)3.00212350
77serotonin metabolic process (GO:0042428)3.00070589
78UDP-N-acetylglucosamine metabolic process (GO:0006047)2.99922830
79epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.99635543
80gamma-aminobutyric acid transport (GO:0015812)2.98642511
81response to pheromone (GO:0019236)2.97680940
82negative regulation of sodium ion transport (GO:0010766)2.96151636
83sulfation (GO:0051923)2.95956620
84B cell mediated immunity (GO:0019724)2.95250021
85neutrophil activation (GO:0042119)2.92295038
86response to interferon-alpha (GO:0035455)2.91617771
87natural killer cell mediated immunity (GO:0002228)2.90994752
88natural killer cell mediated cytotoxicity (GO:0042267)2.90994752
89primary amino compound metabolic process (GO:1901160)2.90538747
90ketone body metabolic process (GO:1902224)2.90200574
91response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.89832421
92response to host (GO:0075136)2.89832421
93response to host defenses (GO:0052200)2.89832421
94response to type I interferon (GO:0034340)2.89331431
95positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.88769780
96cellular response to type I interferon (GO:0071357)2.88271404
97type I interferon signaling pathway (GO:0060337)2.88271404
98flavonoid metabolic process (GO:0009812)2.88222969
99regulation of cholesterol storage (GO:0010885)2.86169659
100reactive oxygen species biosynthetic process (GO:1903409)2.84453155
101negative regulation of cytosolic calcium ion concentration (GO:0051481)2.83879739
102pericardium development (GO:0060039)2.83760772
103Arp2/3 complex-mediated actin nucleation (GO:0034314)2.81423194
104protein targeting to lysosome (GO:0006622)2.79208180
105establishment of protein localization to vacuole (GO:0072666)2.79208180
106protein targeting to vacuole (GO:0006623)2.79208180
107aromatic amino acid family catabolic process (GO:0009074)2.78469894
108negative regulation of systemic arterial blood pressure (GO:0003085)2.78083456
109cAMP catabolic process (GO:0006198)2.77844938
110auditory receptor cell stereocilium organization (GO:0060088)2.77752768
111detection of mechanical stimulus involved in sensory perception (GO:0050974)2.75169735
112negative regulation of mast cell activation (GO:0033004)2.74029078
113leukocyte aggregation (GO:0070486)2.73397960
114pinocytosis (GO:0006907)2.71865073
115regulation of interleukin-8 biosynthetic process (GO:0045414)2.71041992
116regulation of chemokine biosynthetic process (GO:0045073)2.69814869
117myeloid cell activation involved in immune response (GO:0002275)2.69689733
118detection of molecule of bacterial origin (GO:0032490)2.69181718
119positive regulation of gamma-delta T cell activation (GO:0046645)2.67509412
120inner ear receptor stereocilium organization (GO:0060122)2.65237079
121cellular extravasation (GO:0045123)2.65151597
122negative regulation of lipid storage (GO:0010888)2.64959822
123response to muramyl dipeptide (GO:0032495)2.64281158
124regulation of syncytium formation by plasma membrane fusion (GO:0060142)2.63429208
125cyclic nucleotide catabolic process (GO:0009214)2.61529616
126cellular response to ATP (GO:0071318)2.61358037
127production of molecular mediator involved in inflammatory response (GO:0002532)2.57788709
128proline transport (GO:0015824)2.57248760
129negative regulation of neurotransmitter transport (GO:0051589)2.56847391
130central nervous system neuron axonogenesis (GO:0021955)2.56803603
131tachykinin receptor signaling pathway (GO:0007217)2.56611816
132protein prenylation (GO:0018342)2.53537578
133prenylation (GO:0097354)2.53537578
134positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)2.53467829
135cellular response to zinc ion (GO:0071294)2.52781406
136histone H3-K4 trimethylation (GO:0080182)2.52545736
137aromatic amino acid family metabolic process (GO:0009072)2.51499953
138rRNA catabolic process (GO:0016075)2.50842844
139drug catabolic process (GO:0042737)2.50811431
140regulation of heterotypic cell-cell adhesion (GO:0034114)2.50633036
141axoneme assembly (GO:0035082)2.50163306
142endosome to melanosome transport (GO:0035646)2.49852223
143endosome to pigment granule transport (GO:0043485)2.49852223
144positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.48627190
145protein carboxylation (GO:0018214)2.48428306
146peptidyl-glutamic acid carboxylation (GO:0017187)2.48428306
147T-helper 1 type immune response (GO:0042088)2.48287604
148cilium organization (GO:0044782)2.48146457
149apoptotic cell clearance (GO:0043277)2.48053246
150neuronal action potential (GO:0019228)2.47987910
151regulation of interleukin-12 biosynthetic process (GO:0045075)2.47676198
152behavioral response to ethanol (GO:0048149)2.47366670
153response to interferon-beta (GO:0035456)2.46426465
154protein targeting to Golgi (GO:0000042)2.46017431
155cilium morphogenesis (GO:0060271)2.45978034
156cytoplasmic mRNA processing body assembly (GO:0033962)2.45522148
157positive regulation of natural killer cell differentiation (GO:0032825)2.45502134
158cilium assembly (GO:0042384)2.44793959
159cilium movement (GO:0003341)2.43718804
160nicotinamide nucleotide biosynthetic process (GO:0019359)2.43418430
161pyridine nucleotide biosynthetic process (GO:0019363)2.43418430
162retinal cone cell development (GO:0046549)2.43093508
163cell adhesion mediated by integrin (GO:0033627)2.42971941
164limb development (GO:0060173)2.42838731
165appendage development (GO:0048736)2.42838731
166regulation of membrane protein ectodomain proteolysis (GO:0051043)2.42330521
167positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.42151575
168response to sterol (GO:0036314)2.39364177
169negative regulation of interleukin-12 production (GO:0032695)2.38478400
170I-kappaB phosphorylation (GO:0007252)2.38278243
171JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)2.37947262
172positive regulation of tumor necrosis factor superfamily cytokine production (GO:1903557)2.37836943
173regulation of interferon-beta production (GO:0032648)2.37777726
174positive regulation of B cell differentiation (GO:0045579)2.37287377
175defense response to protozoan (GO:0042832)2.35510797
176cellular response to interferon-alpha (GO:0035457)2.35389217
177myeloid dendritic cell differentiation (GO:0043011)2.34083876
178macrophage activation (GO:0042116)2.33892433
179plasma lipoprotein particle clearance (GO:0034381)2.33445187
180leukocyte mediated cytotoxicity (GO:0001909)2.32419566
181regulation of B cell receptor signaling pathway (GO:0050855)2.32228475
182positive regulation of chemokine production (GO:0032722)2.31851880
183positive regulation of mast cell activation (GO:0033005)2.31813673
184positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)2.29952258
185interferon-gamma-mediated signaling pathway (GO:0060333)2.29535066
186neutrophil mediated immunity (GO:0002446)2.29491566
187regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.28810351
188cytokine secretion (GO:0050663)2.28527506
189microglial cell activation (GO:0001774)2.28019331
190positive regulation of type I interferon-mediated signaling pathway (GO:0060340)2.27161675
191positive regulation of antigen processing and presentation (GO:0002579)2.26907669
192response to protozoan (GO:0001562)2.26731186
193regulation of type I interferon-mediated signaling pathway (GO:0060338)2.26502202
194positive regulation of leukocyte degranulation (GO:0043302)2.26262204
195negative regulation of viral genome replication (GO:0045071)2.25695979
196positive regulation of tumor necrosis factor production (GO:0032760)2.25219524
197cellular response to virus (GO:0098586)2.24587136
198positive regulation of heat generation (GO:0031652)2.23375402
199NIK/NF-kappaB signaling (GO:0038061)2.22904824
200positive regulation of NF-kappaB import into nucleus (GO:0042346)2.22761147

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human5.51189877
2IRF8_21731497_ChIP-ChIP_J774_Mouse4.45381458
3GBX2_23144817_ChIP-Seq_PC3_Human3.35211249
4ESR1_17901129_ChIP-ChIP_LIVER_Mouse3.28864271
5BP1_19119308_ChIP-ChIP_Hs578T_Human3.19353619
6EGR1_19374776_ChIP-ChIP_THP-1_Human3.02638722
7IRF8_27001747_Chip-Seq_BMDM_Mouse2.94764898
8NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.92057522
9IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.90260738
10SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.90106311
11MYB_21317192_ChIP-Seq_ERMYB_Mouse2.76607537
12GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.76541337
13* MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.74096414
14CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.71582689
15IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.66893239
16NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.63232692
17VDR_22108803_ChIP-Seq_LS180_Human2.62947826
18ZFP57_27257070_Chip-Seq_ESCs_Mouse2.60056646
19ZNF274_21170338_ChIP-Seq_K562_Hela2.51460420
20GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.51145978
21POU3F2_20337985_ChIP-ChIP_501MEL_Human2.47407459
22FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.46332548
23GATA1_22025678_ChIP-Seq_K562_Human2.46220102
24* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.44938001
25RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.41232205
26RXR_22158963_ChIP-Seq_LIVER_Mouse2.35095570
27TAF15_26573619_Chip-Seq_HEK293_Human2.25999558
28* PPARA_22158963_ChIP-Seq_LIVER_Mouse2.21972632
29IGF1R_20145208_ChIP-Seq_DFB_Human2.19572370
30NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.18465410
31CTBP2_25329375_ChIP-Seq_LNCAP_Human2.17671517
32AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.16003183
33PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.15382072
34SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.12751817
35FLI1_27457419_Chip-Seq_LIVER_Mouse2.11220087
36* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.11160488
37EZH2_22144423_ChIP-Seq_EOC_Human2.07521257
38BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.07318186
39BRD4_27068464_Chip-Seq_AML-cells_Mouse2.05897995
40STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.04894353
41STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.01477195
42E2F7_22180533_ChIP-Seq_HELA_Human1.99018520
43P300_19829295_ChIP-Seq_ESCs_Human1.95176742
44STAT3_23295773_ChIP-Seq_U87_Human1.95152711
45PIAS1_25552417_ChIP-Seq_VCAP_Human1.92300006
46EWS_26573619_Chip-Seq_HEK293_Human1.90958163
47STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.89301577
48TP63_17297297_ChIP-ChIP_HaCaT_Human1.89158004
49SALL1_21062744_ChIP-ChIP_HESCs_Human1.88629090
50ER_23166858_ChIP-Seq_MCF-7_Human1.87311469
51STAT4_19710469_ChIP-ChIP_TH1__Mouse1.87013847
52PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.86273537
53STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.86099728
54LXR_22158963_ChIP-Seq_LIVER_Mouse1.85072470
55TP53_16413492_ChIP-PET_HCT116_Human1.84707295
56FUS_26573619_Chip-Seq_HEK293_Human1.83520484
57PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.82079110
58SPI1_23547873_ChIP-Seq_NB4_Human1.81447485
59SMAD4_21799915_ChIP-Seq_A2780_Human1.80860747
60EGR1_23403033_ChIP-Seq_LIVER_Mouse1.79423171
61CTBP1_25329375_ChIP-Seq_LNCAP_Human1.74937674
62FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.74633742
63PCGF2_27294783_Chip-Seq_ESCs_Mouse1.72313939
64NR3C1_21868756_ChIP-Seq_MCF10A_Human1.72045065
65RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.68029695
66SMAD_19615063_ChIP-ChIP_OVARY_Human1.67248043
67TCF4_23295773_ChIP-Seq_U87_Human1.65417348
68SCL_19346495_ChIP-Seq_HPC-7_Human1.65351355
69ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.65176554
70UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.64037663
71CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.62928018
72AR_21572438_ChIP-Seq_LNCaP_Human1.60427337
73SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.60406951
74BCAT_22108803_ChIP-Seq_LS180_Human1.60285263
75RARG_19884340_ChIP-ChIP_MEFs_Mouse1.59521544
76RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.58987075
77MYB_26560356_Chip-Seq_TH2_Human1.58157255
78RUNX1_22412390_ChIP-Seq_EML_Mouse1.55653968
79POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.55154885
80TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.55154885
81TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.53545955
82SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.52233337
83MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.52177077
84MAF_26560356_Chip-Seq_TH1_Human1.50730555
85CBP_20019798_ChIP-Seq_JUKART_Human1.48889059
86IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.48889059
87AR_25329375_ChIP-Seq_VCAP_Human1.48824585
88SMAD3_21741376_ChIP-Seq_EPCs_Human1.46599227
89TFEB_21752829_ChIP-Seq_HELA_Human1.46390382
90CLOCK_20551151_ChIP-Seq_293T_Human1.45279185
91VDR_24763502_ChIP-Seq_THP-1_Human1.45263565
92CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.44378300
93CDX2_19796622_ChIP-Seq_MESCs_Mouse1.42997483
94PU_27001747_Chip-Seq_BMDM_Mouse1.41667734
95SUZ12_27294783_Chip-Seq_NPCs_Mouse1.40030184
96ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.39471196
97TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.39205157
98MYB_26560356_Chip-Seq_TH1_Human1.38821330
99EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.38684005
100AHR_22903824_ChIP-Seq_MCF-7_Human1.38672582
101VDR_21846776_ChIP-Seq_THP-1_Human1.38189613
102EZH2_27294783_Chip-Seq_NPCs_Mouse1.38065563
103PCGF2_27294783_Chip-Seq_NPCs_Mouse1.37582449
104EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.37429607
105ARNT_22903824_ChIP-Seq_MCF-7_Human1.36498333
106ZNF217_24962896_ChIP-Seq_MCF-7_Human1.35966102
107PRDM14_20953172_ChIP-Seq_ESCs_Human1.34847047
108TRIM28_21343339_ChIP-Seq_HEK293_Human1.33356747
109CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.33055720
110SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.32979832
111OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.32320785
112DROSHA_22980978_ChIP-Seq_HELA_Human1.31408784
113TOP2B_26459242_ChIP-Seq_MCF-7_Human1.31262292
114FLI1_21867929_ChIP-Seq_TH2_Mouse1.31184725
115* FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.30363549
116TCF4_22108803_ChIP-Seq_LS180_Human1.29941427
117TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.29527016
118TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.29361018
119CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.28650409
120NFE2_27457419_Chip-Seq_LIVER_Mouse1.28638602
121* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.28465779
122RUNX2_22187159_ChIP-Seq_PCA_Human1.25404558
123PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.25366040
124CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.25205327
125CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.24394950
126RUNX_20019798_ChIP-Seq_JUKART_Human1.24381898
127EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.23761240
128NANOG_18555785_Chip-Seq_ESCs_Mouse1.23612799
129SMAD4_21741376_ChIP-Seq_EPCs_Human1.21752239
130TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.21489414
131FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.21381589
132ELK3_25401928_ChIP-Seq_HUVEC_Human1.19343667
133CRX_20693478_ChIP-Seq_RETINA_Mouse1.18913213
134GATA2_22383799_ChIP-Seq_G1ME_Mouse1.18575544
135EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.18442494
136CDX2_22108803_ChIP-Seq_LS180_Human1.16321554
137* TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.14834604
138IRF1_19129219_ChIP-ChIP_H3396_Human1.14240391
139SOX2_21211035_ChIP-Seq_LN229_Gbm1.14233270
140KDM2B_26808549_Chip-Seq_REH_Human1.13117822
141SPI1_23127762_ChIP-Seq_K562_Human1.12948552
142RXR_22108803_ChIP-Seq_LS180_Human1.11925616
143KLF5_20875108_ChIP-Seq_MESCs_Mouse1.11720228
144GATA1_22383799_ChIP-Seq_G1ME_Mouse1.11677688
145E2F1_18555785_Chip-Seq_ESCs_Mouse1.11597707
146CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.11027326
147MYC_22102868_ChIP-Seq_BL_Human1.11002339
148FOXM1_26456572_ChIP-Seq_MCF-7_Human1.10960769
149OCT4_21477851_ChIP-Seq_ESCs_Mouse1.10861474
150SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.10790514
151P53_22387025_ChIP-Seq_ESCs_Mouse1.10661423
152SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.10303588
153FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.09866056
154* MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.09667273
155TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.09152856
156UTX_26944678_Chip-Seq_JUKART_Human1.08561434
157FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.08022960
158TP53_18474530_ChIP-ChIP_U2OS_Human1.07917475
159E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.07546161
160* NRF2_20460467_ChIP-Seq_MEFs_Mouse1.07250489
161* NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.07250489
162SOX2_19829295_ChIP-Seq_ESCs_Human1.07100457
163NANOG_19829295_ChIP-Seq_ESCs_Human1.07100457
164THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.05738874
165MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.05637360
166CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.03289843
167TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.03261527
168GATA2_21666600_ChIP-Seq_HMVEC_Human1.02979654
169* CJUN_26792858_Chip-Seq_BT549_Human1.02759109
170SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.02645357
171FOXA1_21572438_ChIP-Seq_LNCaP_Human1.02318893
172TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.02281152
173STAT3_1855785_ChIP-Seq_MESCs_Mouse1.02017620
174GATA3_27048872_Chip-Seq_THYMUS_Human1.01148694
175TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01068544
176SMAD3_21741376_ChIP-Seq_HESCs_Human1.00218031
177SUZ12_18555785_Chip-Seq_ESCs_Mouse0.99881353
178CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.98943528
179LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.97555541
180RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.96809583
181ERG_20887958_ChIP-Seq_HPC-7_Mouse0.95890544
182ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.94610423
183PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.94010158
184TCF7_22412390_ChIP-Seq_EML_Mouse0.93503423
185GATA3_26560356_Chip-Seq_TH2_Human0.92244076
186SALL4_18804426_ChIP-ChIP_XEN_Mouse0.91778032
187SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.89518535
188SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.89518535
189FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.89485436
190GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.89014282
191ESR1_21235772_ChIP-Seq_MCF-7_Human0.88331942
192SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.87988150
193HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.87837414
194KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.87611168
195PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.87543083
196HOXB4_20404135_ChIP-ChIP_EML_Mouse0.86771436
197VDR_24787735_ChIP-Seq_THP-1_Human0.85665149
198FOXO3_23340844_ChIP-Seq_DLD1_Human0.84087891

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000569_abnormal_digit_pigmentation5.50967198
2MP0008057_abnormal_DNA_replication3.99431663
3MP0004043_abnormal_pH_regulation3.15385815
4MP0001835_abnormal_antigen_presentation3.14433829
5MP0005058_abnormal_lysosome_morphology3.06854055
6MP0003436_decreased_susceptibility_to3.05685504
7MP0001501_abnormal_sleep_pattern2.59095070
8MP0003646_muscle_fatigue2.55953722
9MP0009785_altered_susceptibility_to2.55454505
10MP0000427_abnormal_hair_cycle2.46790694
11MP0006082_CNS_inflammation2.44593003
12MP0005551_abnormal_eye_electrophysiolog2.42329801
13MP0002419_abnormal_innate_immunity2.39121972
14MP0009840_abnormal_foam_cell2.37609284
15MP0003303_peritoneal_inflammation2.35180243
16MP0009046_muscle_twitch2.29559987
17MP0005000_abnormal_immune_tolerance2.22299479
18MP0008438_abnormal_cutaneous_collagen2.21982102
19MP0003724_increased_susceptibility_to2.21260133
20MP0005025_abnormal_response_to2.14521196
21MP0000685_abnormal_immune_system2.11476988
22MP0002148_abnormal_hypersensitivity_rea2.06757894
23MP0003191_abnormal_cellular_cholesterol2.05239802
24MP0000383_abnormal_hair_follicle2.02085265
25MP0003705_abnormal_hypodermis_morpholog1.99294721
26MP0001968_abnormal_touch/_nociception1.98954969
27MP0005174_abnormal_tail_pigmentation1.98479993
28MP0003136_yellow_coat_color1.96953730
29MP0003045_fibrosis1.94652136
30MP0002452_abnormal_antigen_presenting1.90681199
31MP0005387_immune_system_phenotype1.89802793
32MP0001790_abnormal_immune_system1.89802793
33MP0003172_abnormal_lysosome_physiology1.89709215
34MP0002139_abnormal_hepatobiliary_system1.85542865
35MP0001533_abnormal_skeleton_physiology1.84750223
36MP0005464_abnormal_platelet_physiology1.83370341
37MP0008961_abnormal_basal_metabolism1.81594390
38MP0001800_abnormal_humoral_immune1.79914154
39MP0004947_skin_inflammation1.79177986
40MP0002723_abnormal_immune_serum1.74643196
41MP0003300_gastrointestinal_ulcer1.73727345
42MP0005671_abnormal_response_to1.72752963
43MP0010352_gastrointestinal_tract_polyps1.70544441
44MP0005253_abnormal_eye_physiology1.66305463
45MP0009745_abnormal_behavioral_response1.65157868
46MP0010386_abnormal_urinary_bladder1.62488419
47MP0001986_abnormal_taste_sensitivity1.61825972
48MP0001853_heart_inflammation1.61488470
49MP0002837_dystrophic_cardiac_calcinosis1.59868343
50MP0003950_abnormal_plasma_membrane1.59046572
51MP0002166_altered_tumor_susceptibility1.58878040
52MP0001819_abnormal_immune_cell1.58334747
53MP0002420_abnormal_adaptive_immunity1.57221508
54MP0000343_altered_response_to1.56601523
55MP0001845_abnormal_inflammatory_respons1.56473784
56MP0003186_abnormal_redox_activity1.55943912
57MP0002876_abnormal_thyroid_physiology1.55921891
58MP0005360_urolithiasis1.54268019
59MP0005646_abnormal_pituitary_gland1.53731234
60MP0002006_tumorigenesis1.53370079
61MP0002928_abnormal_bile_duct1.52047194
62MP0003566_abnormal_cell_adhesion1.51753300
63MP0004142_abnormal_muscle_tone1.51347024
64MP0005171_absent_coat_pigmentation1.51133826
65MP0002735_abnormal_chemical_nociception1.51014793
66MP0002102_abnormal_ear_morphology1.50724022
67MP0008469_abnormal_protein_level1.50136874
68MP0009764_decreased_sensitivity_to1.49831693
69MP0002168_other_aberrant_phenotype1.49213700
70MP0002405_respiratory_system_inflammati1.48276992
71MP0004130_abnormal_muscle_cell1.46584611
72MP0008877_abnormal_DNA_methylation1.44845229
73MP0003448_altered_tumor_morphology1.44268353
74MP0008872_abnormal_physiological_respon1.42523464
75MP0004924_abnormal_behavior1.42470608
76MP0005386_behavior/neurological_phenoty1.42470608
77MP0000858_altered_metastatic_potential1.42247420
78MP0005083_abnormal_biliary_tract1.41747985
79MP0003787_abnormal_imprinting1.40894720
80MP0000538_abnormal_urinary_bladder1.39244674
81MP0006276_abnormal_autonomic_nervous1.39190119
82MP0004145_abnormal_muscle_electrophysio1.37083289
83MP0010307_abnormal_tumor_latency1.36351924
84MP0002736_abnormal_nociception_after1.36287007
85MP0001485_abnormal_pinna_reflex1.36224354
86MP0005023_abnormal_wound_healing1.36052574
87MP0010155_abnormal_intestine_physiology1.34738132
88MP0003195_calcinosis1.30479685
89MP0006054_spinal_hemorrhage1.29747818
90MP0004147_increased_porphyrin_level1.28425726
91MP0003806_abnormal_nucleotide_metabolis1.28096111
92MP0005397_hematopoietic_system_phenotyp1.27509180
93MP0001545_abnormal_hematopoietic_system1.27509180
94MP0002998_abnormal_bone_remodeling1.27023193
95MP0009278_abnormal_bone_marrow1.25832344
96MP0001486_abnormal_startle_reflex1.23408329
97MP0002064_seizures1.23400210
98MP0002638_abnormal_pupillary_reflex1.22136204
99MP0000372_irregular_coat_pigmentation1.21274465
100MP0003656_abnormal_erythrocyte_physiolo1.21159865
101MP0000716_abnormal_immune_system1.20642029
102MP0002254_reproductive_system_inflammat1.20013765
103MP0005645_abnormal_hypothalamus_physiol1.18666165
104MP0005365_abnormal_bile_salt1.18426610
105MP0005187_abnormal_penis_morphology1.18000973
106MP0000230_abnormal_systemic_arterial1.16355929
107MP0002398_abnormal_bone_marrow1.16254576
108MP0009333_abnormal_splenocyte_physiolog1.15838686
109MP0005275_abnormal_skin_tensile1.15147793
110MP0002272_abnormal_nervous_system1.14812849
111MP0009763_increased_sensitivity_to1.14160749
112MP0003075_altered_response_to1.13635035
113MP0002067_abnormal_sensory_capabilities1.12522162
114MP0000689_abnormal_spleen_morphology1.11265857
115MP0002572_abnormal_emotion/affect_behav1.09369615
116MP0000609_abnormal_liver_physiology1.08044263
117MP0006072_abnormal_retinal_apoptosis1.07245868
118MP0004510_myositis1.06009042
119MP0002557_abnormal_social/conspecific_i1.05812164
120MP0000465_gastrointestinal_hemorrhage1.05320466
121MP0002429_abnormal_blood_cell1.05258857
122MP0001958_emphysema1.05233420
123MP0002938_white_spotting1.04358675
124MP0003279_aneurysm1.04098448
125MP0002095_abnormal_skin_pigmentation1.03870700
126MP0005085_abnormal_gallbladder_physiolo1.03845786
127MP0002138_abnormal_hepatobiliary_system1.03219614
128MP0002396_abnormal_hematopoietic_system1.02751059
129MP0003633_abnormal_nervous_system1.02624847
130MP0003453_abnormal_keratinocyte_physiol1.01624412
131MP0002722_abnormal_immune_system1.00762925
132MP0003890_abnormal_embryonic-extraembry1.00604384
133MP0005266_abnormal_metabolism1.00284958
134MP0002877_abnormal_melanocyte_morpholog1.00237488
135MP0002009_preneoplasia1.00014431
136MP0010678_abnormal_skin_adnexa0.99780105
137MP0000604_amyloidosis0.99598817
138MP0001970_abnormal_pain_threshold0.97044187
139MP0005164_abnormal_response_to0.96911827
140MP0002933_joint_inflammation0.96647133
141MP0005076_abnormal_cell_differentiation0.96596187
142MP0005319_abnormal_enzyme/_coenzyme0.96500276
143MP0005395_other_phenotype0.94361743
144MP0008875_abnormal_xenobiotic_pharmacok0.93625310
145MP0000631_abnormal_neuroendocrine_gland0.92695040
146MP0002733_abnormal_thermal_nociception0.92100424
147MP0005390_skeleton_phenotype0.91719941
148MP0005670_abnormal_white_adipose0.91685842
149MP0003252_abnormal_bile_duct0.90139421
150MP0004215_abnormal_myocardial_fiber0.89659784
151MP0000598_abnormal_liver_morphology0.89652256
152MP0002653_abnormal_ependyma_morphology0.88601059
153MP0004808_abnormal_hematopoietic_stem0.87817888
154MP0010329_abnormal_lipoprotein_level0.87744110
155MP0005377_hearing/vestibular/ear_phenot0.87193235
156MP0003878_abnormal_ear_physiology0.87193235
157MP0005166_decreased_susceptibility_to0.87179948
158MP0009643_abnormal_urine_homeostasis0.86087247
159MP0003183_abnormal_peptide_metabolism0.85871021
160MP0000015_abnormal_ear_pigmentation0.84906755
161MP0002229_neurodegeneration0.83660061
162MP0001851_eye_inflammation0.83522529
163MP0003795_abnormal_bone_structure0.83119128
164MP0005647_abnormal_sex_gland0.83052186
165MP0000249_abnormal_blood_vessel0.82453253
166MP0005195_abnormal_posterior_eye0.82264921
167MP0005167_abnormal_blood-brain_barrier0.81108004
168MP0003631_nervous_system_phenotype0.80521428
169MP0000470_abnormal_stomach_morphology0.80494957
170MP0005310_abnormal_salivary_gland0.79516723
171MP0003635_abnormal_synaptic_transmissio0.79008504
172MP0001984_abnormal_olfaction0.78657353
173MP0001756_abnormal_urination0.78579006
174MP0002063_abnormal_learning/memory/cond0.77807553
175MP0002136_abnormal_kidney_physiology0.77578387
176MP0000371_diluted_coat_color0.77349081
177MP0005448_abnormal_energy_balance0.77195373
178MP0001324_abnormal_eye_pigmentation0.76763300
179MP0003632_abnormal_nervous_system0.75587309
180MP0005389_reproductive_system_phenotype0.75249335
181MP0009115_abnormal_fat_cell0.75130408
182MP0001666_abnormal_nutrient_absorption0.74118118
183MP0001915_intracranial_hemorrhage0.74065770
184MP0004381_abnormal_hair_follicle0.72767265
185MP0001664_abnormal_digestion0.72577985
186MP0005075_abnormal_melanosome_morpholog0.71943148
187MP0004133_heterotaxia0.70332870
188MP0004742_abnormal_vestibular_system0.69014079

Predicted human phenotypes

RankGene SetZ-score
1Genetic anticipation (HP:0003743)5.20948636
2Recurrent abscess formation (HP:0002722)5.07102262
3Hyperventilation (HP:0002883)5.05697293
4Eczematoid dermatitis (HP:0000976)4.85776944
5Pancreatic cysts (HP:0001737)4.73868780
6Recurrent bacterial skin infections (HP:0005406)4.71725991
7Recurrent gram-negative bacterial infections (HP:0005420)4.43121536
8Vacuolated lymphocytes (HP:0001922)4.34141207
9Pancreatic fibrosis (HP:0100732)4.21775605
10Gaze-evoked nystagmus (HP:0000640)4.20043893
11Progressive cerebellar ataxia (HP:0002073)3.99818320
12True hermaphroditism (HP:0010459)3.98906188
13Abnormality of macrophages (HP:0004311)3.87781715
14Protruding tongue (HP:0010808)3.75687559
15Systemic lupus erythematosus (HP:0002725)3.70619370
16* Increased cerebral lipofuscin (HP:0011813)3.69067902
17Congenital stationary night blindness (HP:0007642)3.65732864
18Molar tooth sign on MRI (HP:0002419)3.62299112
19Abnormality of midbrain morphology (HP:0002418)3.62299112
20Elevated erythrocyte sedimentation rate (HP:0003565)3.58461038
21Fair hair (HP:0002286)3.51406623
22Abnormality of the renal cortex (HP:0011035)3.48541131
23Chronic hepatic failure (HP:0100626)3.45096590
24Dysostosis multiplex (HP:0000943)3.43531891
25Attenuation of retinal blood vessels (HP:0007843)3.32642988
26* Increased neuronal autofluorescent lipopigment (HP:0002074)3.28354912
27Nephronophthisis (HP:0000090)3.23171602
28Abnormality of the renal medulla (HP:0100957)3.19652695
29Myocardial infarction (HP:0001658)3.16701199
30Recurrent skin infections (HP:0001581)3.16226469
31Cystic liver disease (HP:0006706)3.15686153
32Myositis (HP:0100614)3.10988021
33Autoimmune thrombocytopenia (HP:0001973)3.09443926
34Urinary glycosaminoglycan excretion (HP:0003541)3.04212539
35Mucopolysacchariduria (HP:0008155)3.04212539
36Axonal loss (HP:0003447)3.04055018
37Febrile seizures (HP:0002373)2.96976531
38Congenital sensorineural hearing impairment (HP:0008527)2.93504098
39Aplasia/Hypoplasia of the tibia (HP:0005772)2.93443159
40Tubular atrophy (HP:0000092)2.90171704
41Hematochezia (HP:0002573)2.87805457
42Orchitis (HP:0100796)2.84297768
43Mediastinal lymphadenopathy (HP:0100721)2.81357634
44Generalized hypopigmentation of hair (HP:0011358)2.80348536
45Abnormality of polysaccharide metabolism (HP:0011012)2.77481089
46Abnormality of glycosaminoglycan metabolism (HP:0004371)2.77481089
47Abnormality of mucopolysaccharide metabolism (HP:0011020)2.77481089
48Absent speech (HP:0001344)2.74121147
49Gingivitis (HP:0000230)2.73334162
50Glomerulonephritis (HP:0000099)2.71831177
51Recurrent fungal infections (HP:0002841)2.70312762
52Tetraparesis (HP:0002273)2.69620796
53Medial flaring of the eyebrow (HP:0010747)2.69401335
54Decreased circulating renin level (HP:0003351)2.68969038
55Interstitial pulmonary disease (HP:0006530)2.68810992
56Broad-based gait (HP:0002136)2.62186980
57Peritonitis (HP:0002586)2.61327739
58Abnormality of glycolipid metabolism (HP:0010969)2.56761694
59Abnormality of liposaccharide metabolism (HP:0010968)2.56761694
60Abnormality of glycosphingolipid metabolism (HP:0004343)2.56761694
61Abnormal drinking behavior (HP:0030082)2.50724490
62Polydipsia (HP:0001959)2.50724490
63Gingival bleeding (HP:0000225)2.50366400
64Vertebral compression fractures (HP:0002953)2.49171796
65Abolished electroretinogram (ERG) (HP:0000550)2.48608781
66Urticaria (HP:0001025)2.48520985
67Widely spaced teeth (HP:0000687)2.48278193
68Recurrent viral infections (HP:0004429)2.45509971
69Complement deficiency (HP:0004431)2.44767186
70Osteolytic defects of the hand bones (HP:0009699)2.44609540
71Osteolytic defects of the phalanges of the hand (HP:0009771)2.44609540
72Congenital hepatic fibrosis (HP:0002612)2.44376148
73Large for gestational age (HP:0001520)2.43460049
74Xanthomatosis (HP:0000991)2.42483339
75Pustule (HP:0200039)2.41749229
76Periodontitis (HP:0000704)2.38492225
77Bony spicule pigmentary retinopathy (HP:0007737)2.38140526
78Vasculitis (HP:0002633)2.36298316
79Furrowed tongue (HP:0000221)2.35768500
80Hydroxyprolinuria (HP:0003080)2.34806558
81Abnormality of proline metabolism (HP:0010907)2.34806558
82Aplasia/Hypoplasia of the tongue (HP:0010295)2.34009914
83Basal ganglia calcification (HP:0002135)2.30504852
84Disinhibition (HP:0000734)2.29799885
85Dialeptic seizures (HP:0011146)2.27801649
86Inability to walk (HP:0002540)2.27467355
87Thrombocytosis (HP:0001894)2.27227468
88Abnormality of the common coagulation pathway (HP:0010990)2.26730628
89Cellulitis (HP:0100658)2.25122023
90Increased serum ferritin (HP:0003281)2.23849678
91Chronic otitis media (HP:0000389)2.23832259
92Abnormality of the vasculature of the conjunctiva (HP:0008054)2.23807998
93Petechiae (HP:0000967)2.22954450
94Gait imbalance (HP:0002141)2.22738263
95Stomatitis (HP:0010280)2.22261449
96Renal cortical cysts (HP:0000803)2.22226264
97Dynein arm defect of respiratory motile cilia (HP:0012255)2.22083662
98Absent/shortened dynein arms (HP:0200106)2.22083662
99Joint hemorrhage (HP:0005261)2.21713774
100Retrobulbar optic neuritis (HP:0100654)2.21640202
101Optic neuritis (HP:0100653)2.21640202
102Abnormality of iron homeostasis (HP:0011031)2.21564467
103Abnormality of complement system (HP:0005339)2.21561171
104Cervical subluxation (HP:0003308)2.21174009
105Hypoplastic labia majora (HP:0000059)2.21146409
106Type II lissencephaly (HP:0007260)2.20570096
107Congenital primary aphakia (HP:0007707)2.19615560
108Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.18905425
109Abnormality of alanine metabolism (HP:0010916)2.18905425
110Hyperalaninemia (HP:0003348)2.18905425
111Chronic obstructive pulmonary disease (HP:0006510)2.18108768
112Obstructive lung disease (HP:0006536)2.18108768
113Abnormality of glutamine family amino acid metabolism (HP:0010902)2.18052225
114Nausea (HP:0002018)2.16456601
115Abnormality of aromatic amino acid family metabolism (HP:0004338)2.16023760
116Progressive inability to walk (HP:0002505)2.15880464
117Pathologic fracture (HP:0002756)2.15149207
118Absence seizures (HP:0002121)2.15114009
119Keratoconus (HP:0000563)2.14875554
120Increased corneal curvature (HP:0100692)2.14875554
121Abnormality of the labia majora (HP:0012881)2.14681151
122Cerebellar dysplasia (HP:0007033)2.14540028
123Central scotoma (HP:0000603)2.13244749
124Patellar aplasia (HP:0006443)2.13119765
125Arterial thrombosis (HP:0004420)2.12461263
126Nephritis (HP:0000123)2.11692788
127Osteomyelitis (HP:0002754)2.10545966
128Esophageal varix (HP:0002040)2.10533131
129Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.09554344
130Loss of speech (HP:0002371)2.08489859
131Dysmetric saccades (HP:0000641)2.06677375
132Spontaneous hematomas (HP:0007420)2.05864133
133Hypoplastic ischia (HP:0003175)2.05862471
134Hepatosplenomegaly (HP:0001433)2.05587592
135Stomach cancer (HP:0012126)2.05238886
136Preaxial foot polydactyly (HP:0001841)2.04727747
137Postaxial foot polydactyly (HP:0001830)2.04684295
138Decreased central vision (HP:0007663)2.03032461
139Focal seizures (HP:0007359)2.01843878
140Birth length less than 3rd percentile (HP:0003561)2.01024292
141Abnormal biliary tract physiology (HP:0012439)2.00262013
142Bile duct proliferation (HP:0001408)2.00262013
143Recurrent cutaneous fungal infections (HP:0011370)1.99019476
144Chronic mucocutaneous candidiasis (HP:0002728)1.99019476
145Agnosia (HP:0010524)1.98379842
146Deep venous thrombosis (HP:0002625)1.98226936
147Abnormality of monocarboxylic acid metabolism (HP:0010996)1.98103308
148Abnormality of the ischium (HP:0003174)1.98018529
149Genital tract atresia (HP:0001827)1.97584701
150Leukocytosis (HP:0001974)1.97576323
151Abnormality of transition element cation homeostasis (HP:0011030)1.96939541
152Epistaxis (HP:0000421)1.96173305
153Nephrogenic diabetes insipidus (HP:0009806)1.95834083
154Purpura (HP:0000979)1.94711365
155Poor head control (HP:0002421)1.94591336
156Diplopia (HP:0000651)1.93712029
157Abnormality of binocular vision (HP:0011514)1.93712029
158Facial diplegia (HP:0001349)1.93404793
159Sclerocornea (HP:0000647)1.93030243
160Abnormal ciliary motility (HP:0012262)1.91389669
161Beaking of vertebral bodies (HP:0004568)1.90823848
162Spondylolisthesis (HP:0003302)1.90688712
163Aplasia/Hypoplasia of the patella (HP:0006498)1.90663846
164Abnormal respiratory motile cilium morphology (HP:0005938)1.90302617
165Abnormal respiratory epithelium morphology (HP:0012253)1.90302617
166Male pseudohermaphroditism (HP:0000037)1.89993113
167Vaginal atresia (HP:0000148)1.88861052
168Anencephaly (HP:0002323)1.88369034
169Conjunctival telangiectasia (HP:0000524)1.88069652
170Short foot (HP:0001773)1.87152349
171Chorioretinal atrophy (HP:0000533)1.87110881
172Intrahepatic cholestasis (HP:0001406)1.87038527
173Abnormality of the lumbar spine (HP:0100712)1.85687849
174Poor coordination (HP:0002370)1.85323050
175Blue irides (HP:0000635)1.85075710
176* Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.84689238
177Pulmonary infiltrates (HP:0002113)1.82994940
178Polyuria (HP:0000103)1.82396584
179Urinary bladder sphincter dysfunction (HP:0002839)1.81346415
180Protrusio acetabuli (HP:0003179)1.80829846
181Thyroiditis (HP:0100646)1.79903910
182Highly arched eyebrow (HP:0002553)1.79337554
183Asymmetric septal hypertrophy (HP:0001670)1.79132130
184Bulbous nose (HP:0000414)1.78972938
185Thrombophlebitis (HP:0004418)1.78706385
186Atonic seizures (HP:0010819)1.77382254
187Thoracic kyphosis (HP:0002942)1.77277905
188Anorexia (HP:0002039)1.76908306
189Drooling (HP:0002307)1.75439564
190Hypergammaglobulinemia (HP:0010702)1.74485225
191Abnormal platelet volume (HP:0011876)1.74467890
192Hypoplasia of the pons (HP:0012110)1.72506486
193Abnormality of the pons (HP:0007361)1.72445523
194Hemiparesis (HP:0001269)1.71711040
195Small hand (HP:0200055)1.71471945
196Abnormality of macular pigmentation (HP:0008002)1.71044631
197Tented upper lip vermilion (HP:0010804)1.70924295
198Macroglossia (HP:0000158)1.70801874
199Hyperkalemia (HP:0002153)1.70542497
200Enlarged kidneys (HP:0000105)1.70523011

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK9.87557257
2ERN13.49030052
3BMPR1B3.35983978
4TYK23.16463469
5TBK12.95600006
6MAP3K142.86163062
7BLK2.57411176
8PIM22.30444431
9KIT2.29370078
10ADRBK22.26046007
11AKT32.20746524
12MAP4K12.10891760
13NME22.09431132
14IRAK32.06955689
15JAK32.04830365
16INSRR2.03758752
17IRAK42.02142109
18CASK1.96034474
19IKBKE1.95415831
20MAP2K31.85613317
21IKBKB1.84329117
22SCYL21.84052983
23NEK91.83717994
24MKNK21.83700369
25RIPK41.83317189
26JAK11.81733540
27TGFBR21.74963041
28FGFR41.74917112
29ZAP701.73308074
30FLT31.70410045
31STK101.67329138
32TRIB31.61240098
33LRRK21.59655288
34PBK1.58880612
35OXSR11.56401650
36RPS6KA41.55930743
37MAPK131.54797012
38GRK11.53787845
39WNK31.52766882
40PIK3CG1.43554871
41STK391.39506354
42ZAK1.38973118
43CSF1R1.37315520
44PKN21.37242371
45EPHB11.36141449
46KDR1.34815564
47STK38L1.34154859
48TAOK31.30306587
49NTRK31.29707755
50NUAK11.28291293
51MAP3K31.25789035
52ADRBK11.25456475
53CSK1.19896651
54SIK11.19641701
55CHUK1.18938718
56TXK1.18815453
57WNK41.15596892
58PIM11.15303012
59BTK1.10685468
60TGFBR11.10274324
61BRSK21.09164561
62TTN1.07742184
63TEC1.06821803
64DAPK21.05865205
65MAP3K41.05483712
66BCKDK1.05372130
67SGK21.05304532
68MAP3K111.04127858
69FGFR31.02983401
70MATK1.02127607
71JAK20.99916684
72TRPM70.99278336
73PTK60.96680906
74CAMK1G0.96419158
75FER0.95682410
76TLK10.94776049
77PTK2B0.94103964
78PINK10.93640895
79MELK0.92478079
80ABL20.92117832
81BRD40.91905435
82CDK60.91757987
83BMX0.90877498
84MAP4K20.89849800
85MAP3K100.89679739
86LATS10.88367226
87LCK0.88223494
88PAK30.87734168
89EIF2AK30.84407382
90SYK0.82889644
91ACVR1B0.82254649
92LYN0.81967685
93PRKAA20.81247852
94HCK0.80605301
95EPHA30.79766542
96TNIK0.79658227
97TNK20.78433866
98MAP3K130.78051251
99STK40.77931067
100PRKCE0.75120510
101PAK40.74445798
102MAP3K70.73740487
103TESK10.73439792
104MST1R0.73349458
105PIK3CA0.72855521
106MARK30.72179833
107RIPK10.71488643
108MAP3K80.66963888
109ITK0.64747726
110STK30.64086581
111CDK120.63792469
112STK380.63121558
113EGFR0.60650559
114MAP3K50.60306966
115PNCK0.58557923
116MAP2K60.57716351
117MKNK10.57175664
118TAOK20.57147084
119SGK2230.56451668
120SGK4940.56451668
121PRKG20.54541227
122CAMK40.54130363
123PRKCG0.54109731
124ABL10.53263407
125MST40.52830851
126PRKAA10.52348335
127FGFR20.50798536
128WNK10.50721647
129EIF2AK10.50250966
130CAMK10.47596957
131MET0.46835743
132CAMK2A0.46522899
133PRKCD0.45942738
134TESK20.45307888
135PKN10.45265553
136STK110.44574192
137ERBB20.43880138
138TIE10.43794790
139CAMK1D0.43317030
140MAPKAPK20.43184244
141SIK20.43137835
142MAPK150.42796691
143IRAK10.42592770
144OBSCN0.42528381
145PLK20.42423256
146MAPKAPK30.41843519
147MARK10.41194962
148MAP3K10.40564220
149EIF2AK20.39280372
150IGF1R0.39213248
151SGK30.38803032
152SGK10.38680374
153PDGFRA0.38099283
154PDGFRB0.37817043
155MAPK110.37808612
156GRK70.37768765
157ERBB40.35419293
158MUSK0.34838669
159PAK20.33206739
160MAP2K20.33022352
161CAMKK20.33003532
162GSK3A0.32972031
163PRKCQ0.32504012
164GRK60.32478638
165PRKCH0.32229633
166NLK0.32199215
167MAP2K10.32098827
168MAPKAPK50.29778207
169CSNK1D0.29247672
170PRKACA0.27179033
171PRKG10.26742569
172ERBB30.26551605
173BMPR20.26416743
174EPHA40.25262529
175RPS6KA60.24714911
176PRKACB0.24276180

Predicted pathways (KEGG)

RankGene SetZ-score
1Staphylococcus aureus infection_Homo sapiens_hsa051502.93866710
2Leishmaniasis_Homo sapiens_hsa051402.80363265
3Butanoate metabolism_Homo sapiens_hsa006502.37222578
4* Lysosome_Homo sapiens_hsa041422.25320224
5Toll-like receptor signaling pathway_Homo sapiens_hsa046202.20614459
6Linoleic acid metabolism_Homo sapiens_hsa005912.14391057
7Legionellosis_Homo sapiens_hsa051342.13921083
8Phototransduction_Homo sapiens_hsa047442.12750908
9Other glycan degradation_Homo sapiens_hsa005112.09301962
10Nicotine addiction_Homo sapiens_hsa050332.07019513
11Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.06200156
12Glycosaminoglycan degradation_Homo sapiens_hsa005312.02437592
13Malaria_Homo sapiens_hsa051441.98914519
14alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.97483618
15NF-kappa B signaling pathway_Homo sapiens_hsa040641.95434506
16Osteoclast differentiation_Homo sapiens_hsa043801.88705448
17Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.88640680
18Complement and coagulation cascades_Homo sapiens_hsa046101.82171026
19Taste transduction_Homo sapiens_hsa047421.80556778
20Caffeine metabolism_Homo sapiens_hsa002321.80227979
21Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.76265546
22Pertussis_Homo sapiens_hsa051331.75156772
23Measles_Homo sapiens_hsa051621.69688317
24Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.69577402
25Steroid hormone biosynthesis_Homo sapiens_hsa001401.68543769
26Pentose and glucuronate interconversions_Homo sapiens_hsa000401.62243779
27Primary bile acid biosynthesis_Homo sapiens_hsa001201.61251190
28Tuberculosis_Homo sapiens_hsa051521.60407889
29Ether lipid metabolism_Homo sapiens_hsa005651.59927924
30Graft-versus-host disease_Homo sapiens_hsa053321.59566921
31Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.58480779
32Nitrogen metabolism_Homo sapiens_hsa009101.58304061
33NOD-like receptor signaling pathway_Homo sapiens_hsa046211.56415300
34RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.55540311
35Morphine addiction_Homo sapiens_hsa050321.51027265
36Antigen processing and presentation_Homo sapiens_hsa046121.50075447
37Dorso-ventral axis formation_Homo sapiens_hsa043201.45726829
38Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.40167650
39Toxoplasmosis_Homo sapiens_hsa051451.39446504
40Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.38079200
41TNF signaling pathway_Homo sapiens_hsa046681.36032156
42Lysine degradation_Homo sapiens_hsa003101.34732387
43Allograft rejection_Homo sapiens_hsa053301.33035360
44Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.31527319
45Influenza A_Homo sapiens_hsa051641.29112852
46Olfactory transduction_Homo sapiens_hsa047401.29027659
47Phagosome_Homo sapiens_hsa041451.27824928
48Apoptosis_Homo sapiens_hsa042101.26545672
49Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.25956578
50Homologous recombination_Homo sapiens_hsa034401.24078973
51Rheumatoid arthritis_Homo sapiens_hsa053231.23344981
52Glutamatergic synapse_Homo sapiens_hsa047241.22279159
53Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.21814614
54Ovarian steroidogenesis_Homo sapiens_hsa049131.21553226
55Calcium signaling pathway_Homo sapiens_hsa040201.21356651
56Maturity onset diabetes of the young_Homo sapiens_hsa049501.20728222
57B cell receptor signaling pathway_Homo sapiens_hsa046621.20344935
58Folate biosynthesis_Homo sapiens_hsa007901.19516610
59Glycerolipid metabolism_Homo sapiens_hsa005611.18985347
60Circadian entrainment_Homo sapiens_hsa047131.18760708
61Hematopoietic cell lineage_Homo sapiens_hsa046401.18732632
62Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.17416172
63Asthma_Homo sapiens_hsa053101.16716391
64Serotonergic synapse_Homo sapiens_hsa047261.14666609
65Herpes simplex infection_Homo sapiens_hsa051681.13721049
66Selenocompound metabolism_Homo sapiens_hsa004501.13185437
67Fanconi anemia pathway_Homo sapiens_hsa034601.10392144
68Shigellosis_Homo sapiens_hsa051311.10281120
69Salivary secretion_Homo sapiens_hsa049701.10081722
70Intestinal immune network for IgA production_Homo sapiens_hsa046721.09238310
71Vascular smooth muscle contraction_Homo sapiens_hsa042701.06953329
72Circadian rhythm_Homo sapiens_hsa047101.05201649
73Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.00686789
74Salmonella infection_Homo sapiens_hsa051321.00607183
75GABAergic synapse_Homo sapiens_hsa047271.00581203
76Insulin secretion_Homo sapiens_hsa049110.98648494
77Jak-STAT signaling pathway_Homo sapiens_hsa046300.96596817
78Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.93250218
79Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.93130676
80Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.92679618
81Arginine biosynthesis_Homo sapiens_hsa002200.91326390
82Propanoate metabolism_Homo sapiens_hsa006400.90877433
83Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.90199084
84Hepatitis B_Homo sapiens_hsa051610.88688708
85Leukocyte transendothelial migration_Homo sapiens_hsa046700.88231774
86Fatty acid degradation_Homo sapiens_hsa000710.85842976
87Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.85326213
88Fatty acid biosynthesis_Homo sapiens_hsa000610.85150266
89Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.84328394
90Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.84059998
91Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.83400542
92Hepatitis C_Homo sapiens_hsa051600.82796803
93Peroxisome_Homo sapiens_hsa041460.82006050
94Amoebiasis_Homo sapiens_hsa051460.81796246
95Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.81520880
96Viral myocarditis_Homo sapiens_hsa054160.78378935
97Sphingolipid metabolism_Homo sapiens_hsa006000.78221347
98PPAR signaling pathway_Homo sapiens_hsa033200.76211595
99Drug metabolism - other enzymes_Homo sapiens_hsa009830.75998129
100Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.75396179
101Arachidonic acid metabolism_Homo sapiens_hsa005900.75270554
102Cholinergic synapse_Homo sapiens_hsa047250.74417805
103cAMP signaling pathway_Homo sapiens_hsa040240.74148553
104Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.73989615
105Starch and sucrose metabolism_Homo sapiens_hsa005000.73910883
106AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.73753954
107Histidine metabolism_Homo sapiens_hsa003400.73369807
108Renin secretion_Homo sapiens_hsa049240.73333891
109Gastric acid secretion_Homo sapiens_hsa049710.71960512
110Type II diabetes mellitus_Homo sapiens_hsa049300.71872575
111Tryptophan metabolism_Homo sapiens_hsa003800.71261111
112Long-term depression_Homo sapiens_hsa047300.71223342
113Oxytocin signaling pathway_Homo sapiens_hsa049210.71142012
114Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.71099239
115Small cell lung cancer_Homo sapiens_hsa052220.70849538
116Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.69709479
117Mineral absorption_Homo sapiens_hsa049780.68578610
118Chronic myeloid leukemia_Homo sapiens_hsa052200.68126826
119Adipocytokine signaling pathway_Homo sapiens_hsa049200.66690861
120Pancreatic cancer_Homo sapiens_hsa052120.66637218
121Acute myeloid leukemia_Homo sapiens_hsa052210.66234499
122Steroid biosynthesis_Homo sapiens_hsa001000.64395575
123Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.63060156
124Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.61831927
125Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.61003958
126Aldosterone synthesis and secretion_Homo sapiens_hsa049250.60593197
127African trypanosomiasis_Homo sapiens_hsa051430.60335193
128FoxO signaling pathway_Homo sapiens_hsa040680.59850168
129Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.59762760
130Chemokine signaling pathway_Homo sapiens_hsa040620.58537288
131Renin-angiotensin system_Homo sapiens_hsa046140.58396709
132Regulation of autophagy_Homo sapiens_hsa041400.57411291
133Primary immunodeficiency_Homo sapiens_hsa053400.57386907
134Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.57331532
135Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.55957313
136Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.54805923
137Chemical carcinogenesis_Homo sapiens_hsa052040.53909935
138Pentose phosphate pathway_Homo sapiens_hsa000300.53790649
139Type I diabetes mellitus_Homo sapiens_hsa049400.53533553
140Dopaminergic synapse_Homo sapiens_hsa047280.52728265
141Pancreatic secretion_Homo sapiens_hsa049720.52581333
142Galactose metabolism_Homo sapiens_hsa000520.52502069
143Glycerophospholipid metabolism_Homo sapiens_hsa005640.52431670
144One carbon pool by folate_Homo sapiens_hsa006700.52367160
145p53 signaling pathway_Homo sapiens_hsa041150.52028899
146Viral carcinogenesis_Homo sapiens_hsa052030.51377291
147Sulfur relay system_Homo sapiens_hsa041220.51035490
148Cocaine addiction_Homo sapiens_hsa050300.50808695
149Phosphatidylinositol signaling system_Homo sapiens_hsa040700.49233170
150cGMP-PKG signaling pathway_Homo sapiens_hsa040220.48593055
151Insulin resistance_Homo sapiens_hsa049310.48467778
152Prion diseases_Homo sapiens_hsa050200.47938005
153ABC transporters_Homo sapiens_hsa020100.47864527
154Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.47401972
155Carbohydrate digestion and absorption_Homo sapiens_hsa049730.45531345
156Platelet activation_Homo sapiens_hsa046110.45380386
157Glutathione metabolism_Homo sapiens_hsa004800.44248197
158TGF-beta signaling pathway_Homo sapiens_hsa043500.44026977
159Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.44006714
160Proteoglycans in cancer_Homo sapiens_hsa052050.43566198
161Autoimmune thyroid disease_Homo sapiens_hsa053200.43560882
162beta-Alanine metabolism_Homo sapiens_hsa004100.43177347
163Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.41912764
164Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.41792152
165Bile secretion_Homo sapiens_hsa049760.41472874
166Retinol metabolism_Homo sapiens_hsa008300.40475490
167MAPK signaling pathway_Homo sapiens_hsa040100.35875243
168Amphetamine addiction_Homo sapiens_hsa050310.35684360

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