DIRC2

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





Description: This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell carcinomas. Alternatively spliced transcript variants have been described, but their biological validity has not yet been determined. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1detection of molecule of bacterial origin (GO:0032490)4.35685350
2oligosaccharide catabolic process (GO:0009313)4.33860214
3regulation of short-term neuronal synaptic plasticity (GO:0048172)4.25633546
4hemidesmosome assembly (GO:0031581)4.01953828
5positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.94473088
6vocalization behavior (GO:0071625)3.81608556
7gamma-aminobutyric acid transport (GO:0015812)3.78207933
8response to peptidoglycan (GO:0032494)3.77466265
9synaptic vesicle maturation (GO:0016188)3.70758292
10ionotropic glutamate receptor signaling pathway (GO:0035235)3.53752495
11glycosphingolipid catabolic process (GO:0046479)3.52894925
12glutamate secretion (GO:0014047)3.51001959
13positive regulation of membrane protein ectodomain proteolysis (GO:0051044)3.50921912
14regulation of synaptic vesicle exocytosis (GO:2000300)3.49541396
15neuronal action potential propagation (GO:0019227)3.47907391
16neuron cell-cell adhesion (GO:0007158)3.45855419
17pyrimidine-containing compound transmembrane transport (GO:0072531)3.44878902
18regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.44604891
19positive regulation by symbiont of host defense response (GO:0052509)3.43080580
20modulation by symbiont of host defense response (GO:0052031)3.43080580
21modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.43080580
22modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.43080580
23positive regulation by organism of defense response of other organism involved in symbiotic interact3.43080580
24modulation by symbiont of host immune response (GO:0052553)3.43080580
25locomotory exploration behavior (GO:0035641)3.43070228
26positive regulation of leukocyte degranulation (GO:0043302)3.41762856
27positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.40465975
28desmosome organization (GO:0002934)3.40281486
29synaptic vesicle exocytosis (GO:0016079)3.35219080
30macrophage activation involved in immune response (GO:0002281)3.34029897
31positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.32670984
32muscle filament sliding (GO:0030049)3.32651938
33actin-myosin filament sliding (GO:0033275)3.32651938
34hypotonic response (GO:0006971)3.31314403
35regulation of synapse structural plasticity (GO:0051823)3.31050576
36glycolipid catabolic process (GO:0019377)3.21118860
37positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.18248768
38regulation of synaptic vesicle transport (GO:1902803)3.17584179
39layer formation in cerebral cortex (GO:0021819)3.17583660
40regulation of membrane protein ectodomain proteolysis (GO:0051043)3.17111674
41pyrimidine nucleobase catabolic process (GO:0006208)3.14451683
42neuron recognition (GO:0008038)3.13283856
43regulation of glutamate receptor signaling pathway (GO:1900449)3.08835372
44cellular potassium ion homeostasis (GO:0030007)3.07896247
45protein localization to synapse (GO:0035418)3.07792911
46toxin transport (GO:1901998)3.07202605
47iron ion import (GO:0097286)3.06324382
48intestinal epithelial cell development (GO:0060576)3.04617547
49protein localization to endosome (GO:0036010)3.02560019
50L-amino acid import (GO:0043092)3.02482676
51actin-mediated cell contraction (GO:0070252)3.01535868
52skin morphogenesis (GO:0043589)3.00075554
53cell adhesion mediated by integrin (GO:0033627)2.98768620
54glutamate receptor signaling pathway (GO:0007215)2.98413771
55regulation of interferon-beta biosynthetic process (GO:0045357)2.97780613
56regulation of water loss via skin (GO:0033561)2.97494932
57cellular response to thyroid hormone stimulus (GO:0097067)2.95448516
58axonal fasciculation (GO:0007413)2.95200176
59negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)2.94878108
60regulation of neuronal synaptic plasticity (GO:0048168)2.93888169
61membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.93446616
62nucleobase catabolic process (GO:0046113)2.93207617
63regulation of long-term neuronal synaptic plasticity (GO:0048169)2.92972021
64bundle of His cell to Purkinje myocyte communication (GO:0086069)2.92845009
65neurotransmitter secretion (GO:0007269)2.90259547
66ceramide catabolic process (GO:0046514)2.90141183
67cerebellar granule cell differentiation (GO:0021707)2.90112015
68sodium ion export (GO:0071436)2.89434776
69regulation of nitric-oxide synthase biosynthetic process (GO:0051769)2.88408416
70dendritic spine morphogenesis (GO:0060997)2.87699440
71cellular polysaccharide catabolic process (GO:0044247)2.87635400
72response to muscle activity (GO:0014850)2.85122232
73glucan catabolic process (GO:0009251)2.82135870
74regulation of toll-like receptor 4 signaling pathway (GO:0034143)2.81568889
75synaptic transmission, glutamatergic (GO:0035249)2.80891417
76cellular extravasation (GO:0045123)2.80655259
77dendrite morphogenesis (GO:0048813)2.78350811
78positive regulation of cellular amide metabolic process (GO:0034250)2.77580495
79negative regulation of interleukin-12 production (GO:0032695)2.76462258
80detection of external biotic stimulus (GO:0098581)2.75671666
81membrane lipid catabolic process (GO:0046466)2.75363263
82neuromuscular process controlling posture (GO:0050884)2.75265024
83skeletal muscle contraction (GO:0003009)2.75118679
84negative regulation of lipid storage (GO:0010888)2.74904144
85glycogen catabolic process (GO:0005980)2.74571184
86epithelial cell differentiation involved in prostate gland development (GO:0060742)2.73556907
87sphingolipid catabolic process (GO:0030149)2.72922645
88establishment of skin barrier (GO:0061436)2.72275352
89neuromuscular process controlling balance (GO:0050885)2.71566565
90early endosome to late endosome transport (GO:0045022)2.71127587
91neutrophil activation involved in immune response (GO:0002283)2.70854962
92macrophage activation (GO:0042116)2.70283021
93apoptotic cell clearance (GO:0043277)2.69919789
94axon ensheathment in central nervous system (GO:0032291)2.69012098
95central nervous system myelination (GO:0022010)2.69012098
96exploration behavior (GO:0035640)2.67086975
97neurotransmitter-gated ion channel clustering (GO:0072578)2.67023411
98polysaccharide catabolic process (GO:0000272)2.66932882
99actin filament-based movement (GO:0030048)2.66835084
100plasma membrane repair (GO:0001778)2.65952484
101peptide catabolic process (GO:0043171)2.65415937
102positive regulation of receptor recycling (GO:0001921)2.64579771
103cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.63885532
104neuron-neuron synaptic transmission (GO:0007270)2.63676355
105proline transport (GO:0015824)2.63579367
106establishment of mitochondrion localization (GO:0051654)2.63557529
107nerve growth factor signaling pathway (GO:0038180)2.63489637
108intracellular lipid transport (GO:0032365)2.61692510
109fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)2.60867032
110cell migration in hindbrain (GO:0021535)2.60715959
111sarcoplasmic reticulum calcium ion transport (GO:0070296)2.60500733
112activation of protein kinase A activity (GO:0034199)2.60168194
113response to auditory stimulus (GO:0010996)2.60053936
114positive regulation of Cdc42 GTPase activity (GO:0043089)2.59999643
115positive regulation of synapse maturation (GO:0090129)2.56578420
116regulation of leukocyte degranulation (GO:0043300)2.56516096
117potassium ion import (GO:0010107)2.54877681
118positive regulation of potassium ion transmembrane transport (GO:1901381)2.54049252
119positive regulation of myeloid leukocyte mediated immunity (GO:0002888)2.53979538
120long-term memory (GO:0007616)2.53699223
121barbed-end actin filament capping (GO:0051016)2.53397416
122production of molecular mediator involved in inflammatory response (GO:0002532)2.53123223
123behavioral response to cocaine (GO:0048148)2.52891497
124lipopolysaccharide-mediated signaling pathway (GO:0031663)2.52441567
125macroautophagy (GO:0016236)2.52370520
126COPII vesicle coating (GO:0048208)2.49495987
127cell communication by electrical coupling (GO:0010644)2.49170566
128cellular response to arsenic-containing substance (GO:0071243)2.49150405
129regulation of sequestering of triglyceride (GO:0010889)2.48000964
130positive regulation of interleukin-8 biosynthetic process (GO:0045416)2.47870992
131neutrophil mediated immunity (GO:0002446)2.47842336
132epithelial cell-cell adhesion (GO:0090136)2.47389390
133detection of other organism (GO:0098543)2.45310483
134neurotransmitter transport (GO:0006836)2.45274049
135alpha-linolenic acid metabolic process (GO:0036109)2.45248481
136pinocytosis (GO:0006907)2.44814962
137positive regulation of toll-like receptor signaling pathway (GO:0034123)2.44700349
138skeletal muscle tissue regeneration (GO:0043403)2.44208598
139negative regulation of protein localization to plasma membrane (GO:1903077)2.43122805
140regulation of early endosome to late endosome transport (GO:2000641)2.42485978
141regulation of synaptic plasticity (GO:0048167)2.42376221
142negative regulation of interleukin-17 production (GO:0032700)2.41574220
143synaptic vesicle docking involved in exocytosis (GO:0016081)2.41282708
144positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.41168936
145regulation of mast cell degranulation (GO:0043304)2.40604229
146detection of biotic stimulus (GO:0009595)2.40516988
147positive regulation of cholesterol efflux (GO:0010875)2.40503725
148regulation of dendritic spine morphogenesis (GO:0061001)2.40336502
149regulation of neurotransmitter levels (GO:0001505)2.39693900
150regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.38058496
151positive regulation of regulated secretory pathway (GO:1903307)2.37761615
152negative regulation of potassium ion transmembrane transporter activity (GO:1901017)2.37136810
153auditory behavior (GO:0031223)2.36785518
154cellular response to nerve growth factor stimulus (GO:1990090)2.35622887
155response to nerve growth factor (GO:1990089)2.35622887
156glycine transport (GO:0015816)2.35400539
157embryonic process involved in female pregnancy (GO:0060136)2.35230059
158interleukin-6-mediated signaling pathway (GO:0070102)2.33812972
159transmission of nerve impulse (GO:0019226)2.32661900
160regulation of female receptivity (GO:0045924)2.32598143
161response to host (GO:0075136)2.32303485
162response to host defenses (GO:0052200)2.32303485
163response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.32303485
164regulation of mast cell activation involved in immune response (GO:0033006)2.32070118
165response to host immune response (GO:0052572)2.32025201
166response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.32025201
167amino acid import (GO:0043090)2.31642754
168adult walking behavior (GO:0007628)2.31546281
169positive regulation of mast cell activation involved in immune response (GO:0033008)2.31441633
170positive regulation of mast cell degranulation (GO:0043306)2.31441633
171dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.31170173
172negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.30986336
173regulation of excitatory postsynaptic membrane potential (GO:0060079)2.30838366
174negative regulation of amino acid transport (GO:0051956)2.30695675
175gamma-aminobutyric acid signaling pathway (GO:0007214)2.30086304
176alanine transport (GO:0032328)2.29596246
177neurotransmitter catabolic process (GO:0042135)2.27727508
178CDP-diacylglycerol metabolic process (GO:0046341)2.27701666
179cellular sodium ion homeostasis (GO:0006883)2.27638695
180long term synaptic depression (GO:0060292)2.27596071
181long-chain fatty acid biosynthetic process (GO:0042759)2.27339763
182presynaptic membrane assembly (GO:0097105)2.26684369
183regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.26446613
184organelle transport along microtubule (GO:0072384)2.25817917
185neuromuscular process (GO:0050905)2.25629874
186regulation of vesicle fusion (GO:0031338)2.24791862
187cell communication involved in cardiac conduction (GO:0086065)2.23871791
188establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.23295933
189mitochondrion transport along microtubule (GO:0047497)2.23295933
190mating behavior (GO:0007617)2.23087440
191acidic amino acid transport (GO:0015800)2.21723686
192creatine metabolic process (GO:0006600)2.21624978
193L-glutamate transport (GO:0015813)2.20398191
194regulation of neurotransmitter secretion (GO:0046928)2.20370728
195positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.19983952
196regulation of dendritic spine development (GO:0060998)2.18727176
197negative regulation of macroautophagy (GO:0016242)2.18577519
198axon extension (GO:0048675)2.18450893

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human4.88857386
2EZH2_22144423_ChIP-Seq_EOC_Human4.09872247
3TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse4.09343138
4SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.94230042
5NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.92488758
6SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.65877708
7SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.57230880
8JARID2_20064375_ChIP-Seq_MESCs_Mouse2.46554038
9NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.35108858
10GBX2_23144817_ChIP-Seq_PC3_Human2.33248527
11RNF2_18974828_ChIP-Seq_MESCs_Mouse2.32827966
12EZH2_18974828_ChIP-Seq_MESCs_Mouse2.32827966
13* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.31117541
14MTF2_20144788_ChIP-Seq_MESCs_Mouse2.29053406
15SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.25176305
16ESR1_21235772_ChIP-Seq_MCF-7_Human2.20756238
17SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.18193245
18MYB_21317192_ChIP-Seq_ERMYB_Mouse2.18024693
19* SMAD3_18955504_ChIP-ChIP_HaCaT_Human2.16325210
20* SMAD2_18955504_ChIP-ChIP_HaCaT_Human2.16325210
21IRF8_27001747_Chip-Seq_BMDM_Mouse2.12561970
22JARID2_20075857_ChIP-Seq_MESCs_Mouse2.11055692
23FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.08387181
24SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.08327953
25* REST_21632747_ChIP-Seq_MESCs_Mouse2.06955659
26SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.06563052
27ESR1_20079471_ChIP-ChIP_T-47D_Human2.05714705
28SALL4_18804426_ChIP-ChIP_XEN_Mouse2.01727245
29CLOCK_20551151_ChIP-Seq_293T_Human2.00003374
30EZH2_27304074_Chip-Seq_ESCs_Mouse1.95769460
31FOXO3_23340844_ChIP-Seq_DLD1_Human1.94593095
32RARB_27405468_Chip-Seq_BRAIN_Mouse1.89700121
33EZH2_27294783_Chip-Seq_ESCs_Mouse1.89639630
34SUZ12_27294783_Chip-Seq_ESCs_Mouse1.87302329
35CDX2_19796622_ChIP-Seq_MESCs_Mouse1.84442133
36PPAR_26484153_Chip-Seq_NCI-H1993_Human1.83862014
37MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.83600361
38EED_16625203_ChIP-ChIP_MESCs_Mouse1.83582715
39SOX9_24532713_ChIP-Seq_HFSC_Mouse1.82941051
40DROSHA_22980978_ChIP-Seq_HELA_Human1.81926100
41SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.79582863
42RNF2_27304074_Chip-Seq_ESCs_Mouse1.76166038
43CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.71855649
44TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.69142771
45REST_18959480_ChIP-ChIP_MESCs_Mouse1.68790664
46VDR_24787735_ChIP-Seq_THP-1_Human1.65363066
47SOX2_27498859_Chip-Seq_STOMACH_Mouse1.62749188
48FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.62457640
49CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.58210220
50CJUN_26792858_Chip-Seq_BT549_Human1.56921226
51THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.55496302
52NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.53666957
53TBX20_22080862_ChIP-Seq_HEART_Mouse1.52018019
54TBX20_22328084_ChIP-Seq_HEART_Mouse1.52018019
55FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.51837062
56STAT6_21828071_ChIP-Seq_BEAS2B_Human1.51459779
57AR_21572438_ChIP-Seq_LNCaP_Human1.49407004
58ERG_21242973_ChIP-ChIP_JURKAT_Human1.48989735
59NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.47953628
60* TP63_23658742_ChIP-Seq_EP156T_Human1.47797791
61BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.47549922
62KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.47512820
63WT1_19549856_ChIP-ChIP_CCG9911_Human1.47476474
64* SOX2_20726797_ChIP-Seq_SW620_Human1.45859548
65STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.44689459
66* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.44669896
67CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.43872593
68KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.42447895
69CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.42373582
70BRD4_25478319_ChIP-Seq_HGPS_Human1.42025277
71ZNF263_19887448_ChIP-Seq_K562_Human1.41561665
72STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.40761090
73BP1_19119308_ChIP-ChIP_Hs578T_Human1.40625405
74* PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.39235072
75IKZF1_21737484_ChIP-ChIP_HCT116_Human1.38151104
76CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.35900984
77BRD4_27068464_Chip-Seq_AML-cells_Mouse1.35320150
78ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.32668078
79ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.31488223
80FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.30691331
81PU_27001747_Chip-Seq_BMDM_Mouse1.29177223
82CTBP2_25329375_ChIP-Seq_LNCAP_Human1.28466009
83NR3C1_23031785_ChIP-Seq_PC12_Mouse1.28286292
84ESR2_21235772_ChIP-Seq_MCF-7_Human1.28124926
85IRF8_21731497_ChIP-ChIP_J774_Mouse1.28008428
86GATA2_21666600_ChIP-Seq_HMVEC_Human1.27924928
87P63_26484246_Chip-Seq_KERATINOCYTES_Human1.27581384
88EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.26030825
89FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.24992005
90TCF4_18268006_ChIP-ChIP_LS174T_Human1.24407499
91EGR1_19374776_ChIP-ChIP_THP-1_Human1.23649734
92PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.23330208
93FOXM1_26456572_ChIP-Seq_MCF-7_Human1.23296765
94GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.23247153
95KDM2B_26808549_Chip-Seq_K562_Human1.23167681
96NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.22801246
97HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.21391083
98NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.20866546
99NFIB_24661679_ChIP-Seq_LUNG_Mouse1.20772551
100ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.20495525
101TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.20205796
102TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.19200484
103* RXR_22158963_ChIP-Seq_LIVER_Mouse1.19059169
104RARG_19884340_ChIP-ChIP_MEFs_Mouse1.18736266
105* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.18115944
106PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.18065146
107STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.15928130
108CTBP1_25329375_ChIP-Seq_LNCAP_Human1.14879009
109ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.13512448
110SMAD_19615063_ChIP-ChIP_OVARY_Human1.13462301
111SMAD4_21799915_ChIP-Seq_A2780_Human1.12385125
112LXR_22158963_ChIP-Seq_LIVER_Mouse1.11593724
113AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.11550325
114TFEB_21752829_ChIP-Seq_HELA_Human1.10719479
115TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.09439370
116NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.08986434
117NRF2_20460467_ChIP-Seq_MEFs_Mouse1.08986434
118SOX2_21211035_ChIP-Seq_LN229_Gbm1.08787556
119SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.08065160
120FOXA2_19822575_ChIP-Seq_HepG2_Human1.07754362
121SPI1_23127762_ChIP-Seq_K562_Human1.07188001
122PIAS1_25552417_ChIP-Seq_VCAP_Human1.06916892
123UBF1/2_26484160_Chip-Seq_HMECs_Human1.06812571
124PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.05974566
125RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.05817454
126OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.05414259
127ZNF217_24962896_ChIP-Seq_MCF-7_Human1.03833162
128SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.03763600
129RING1B_27294783_Chip-Seq_ESCs_Mouse1.03209651
130TAF15_26573619_Chip-Seq_HEK293_Human1.02069272
131NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.02052389
132GATA3_24758297_ChIP-Seq_MCF-7_Human1.01318261
133ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.01076864
134JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.00800709
135MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.00608996
136AR_25329375_ChIP-Seq_VCAP_Human1.00202188
137ZNF274_21170338_ChIP-Seq_K562_Hela1.00067005
138ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.99397959
139AHR_22903824_ChIP-Seq_MCF-7_Human0.98772021
140DNAJC2_21179169_ChIP-ChIP_NT2_Human0.98573648
141GATA4_25053715_ChIP-Seq_YYC3_Human0.98533343
142EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.98490454
143NR3C1_21868756_ChIP-Seq_MCF10A_Human0.98323747
144RXR_22108803_ChIP-Seq_LS180_Human0.97684583
145WT1_25993318_ChIP-Seq_PODOCYTE_Human0.95630925
146* PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.95371401
147ZFP57_27257070_Chip-Seq_ESCs_Mouse0.94885028
148P300_19829295_ChIP-Seq_ESCs_Human0.94267193
149* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.94131474
150P53_22127205_ChIP-Seq_FIBROBLAST_Human0.94111896
151ARNT_22903824_ChIP-Seq_MCF-7_Human0.93289802
152EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.93062413
153SMAD3_21741376_ChIP-Seq_EPCs_Human0.92876723
154EP300_21415370_ChIP-Seq_HL-1_Mouse0.92711260
155ER_23166858_ChIP-Seq_MCF-7_Human0.92341545
156SMAD4_21741376_ChIP-Seq_HESCs_Human0.90512082
157RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.89983593
158TOP2B_26459242_ChIP-Seq_MCF-7_Human0.89596052
159TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.89207453
160AR_19668381_ChIP-Seq_PC3_Human0.88539469
161GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.88272424
162E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.88194721
163PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.87887127
164AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.87158768
165TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.86627031
166TP53_16413492_ChIP-PET_HCT116_Human0.85333651
167RING1B_27294783_Chip-Seq_NPCs_Mouse0.85060596
168UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.85022121
169* SMAD3_21741376_ChIP-Seq_HESCs_Human0.84994882
170WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.84579111
171* TET1_21490601_ChIP-Seq_MESCs_Mouse0.84494945
172TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.83602631
173Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.83425365
174STAT3_23295773_ChIP-Seq_U87_Human0.82334812
175VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.82210536
176CTCF_27219007_Chip-Seq_Bcells_Human0.81632018
177PRDM14_20953172_ChIP-Seq_ESCs_Human0.81553073

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.13308169
2MP0003880_abnormal_central_pattern3.55588678
3MP0010234_abnormal_vibrissa_follicle3.42399037
4MP0004270_analgesia3.39885566
5MP0003191_abnormal_cellular_cholesterol3.36538912
6MP0003635_abnormal_synaptic_transmissio3.21428941
7MP0003329_amyloid_beta_deposits2.85033177
8MP0003828_pulmonary_edema2.72731309
9MP0002064_seizures2.61985736
10MP0010352_gastrointestinal_tract_polyps2.58242493
11MP0002063_abnormal_learning/memory/cond2.55549121
12MP0009745_abnormal_behavioral_response2.54505077
13MP0005423_abnormal_somatic_nervous2.54480462
14MP0004858_abnormal_nervous_system2.45326320
15MP0009046_muscle_twitch2.38467304
16MP0002796_impaired_skin_barrier2.36660155
17MP0004233_abnormal_muscle_weight2.32389274
18MP0003705_abnormal_hypodermis_morpholog2.31876328
19MP0001440_abnormal_grooming_behavior2.29247446
20MP0002734_abnormal_mechanical_nocicepti2.29156527
21MP0003453_abnormal_keratinocyte_physiol2.24731880
22MP0003690_abnormal_glial_cell2.14857036
23MP0000751_myopathy2.10479423
24MP0009840_abnormal_foam_cell2.09973508
25MP0002735_abnormal_chemical_nociception2.08720224
26MP0002733_abnormal_thermal_nociception2.05309277
27MP0001486_abnormal_startle_reflex2.02660575
28MP0002572_abnormal_emotion/affect_behav2.01682284
29MP0000604_amyloidosis2.01019343
30MP0002822_catalepsy1.99660677
31MP0000920_abnormal_myelination1.99020923
32MP0002272_abnormal_nervous_system1.98617876
33MP0010678_abnormal_skin_adnexa1.96363072
34MP0001968_abnormal_touch/_nociception1.93537132
35MP0003941_abnormal_skin_development1.92753338
36MP0003646_muscle_fatigue1.91859334
37MP0003566_abnormal_cell_adhesion1.89162667
38MP0003300_gastrointestinal_ulcer1.88362215
39MP0000778_abnormal_nervous_system1.85762519
40MP0001970_abnormal_pain_threshold1.85049647
41MP0004130_abnormal_muscle_cell1.83167059
42MP0001501_abnormal_sleep_pattern1.82857582
43MP0003724_increased_susceptibility_to1.81254727
44MP0002837_dystrophic_cardiac_calcinosis1.80598289
45MP0005409_darkened_coat_color1.80473917
46MP0004885_abnormal_endolymph1.68266235
47MP0002909_abnormal_adrenal_gland1.59079694
48MP0000750_abnormal_muscle_regeneration1.58177850
49MP0002877_abnormal_melanocyte_morpholog1.57155451
50MP0008004_abnormal_stomach_pH1.56964463
51MP0000747_muscle_weakness1.56194470
52MP0004510_myositis1.56031988
53MP0002254_reproductive_system_inflammat1.55646395
54MP0003075_altered_response_to1.53155390
55MP0008260_abnormal_autophagy1.49091350
56MP0006276_abnormal_autonomic_nervous1.48966704
57MP0003303_peritoneal_inflammation1.46654776
58MP0002067_abnormal_sensory_capabilities1.46042246
59MP0000383_abnormal_hair_follicle1.45573941
60MP0003436_decreased_susceptibility_to1.38711212
61MP0003634_abnormal_glial_cell1.38649585
62MP0003950_abnormal_plasma_membrane1.38403555
63MP0003633_abnormal_nervous_system1.38105971
64MP0009780_abnormal_chondrocyte_physiolo1.38080350
65MP0002736_abnormal_nociception_after1.36240141
66MP0006082_CNS_inflammation1.34798493
67MP0000579_abnormal_nail_morphology1.34695517
68MP0001216_abnormal_epidermal_layer1.33690880
69MP0002066_abnormal_motor_capabilities/c1.30714747
70MP0005386_behavior/neurological_phenoty1.29992777
71MP0004924_abnormal_behavior1.29992777
72MP0002896_abnormal_bone_mineralization1.29971853
73MP0002998_abnormal_bone_remodeling1.29577553
74MP0000955_abnormal_spinal_cord1.28185275
75MP0000759_abnormal_skeletal_muscle1.27982922
76MP0005248_abnormal_Harderian_gland1.27935549
77MP0003448_altered_tumor_morphology1.27477713
78MP0005058_abnormal_lysosome_morphology1.25895740
79MP0002060_abnormal_skin_morphology1.25873224
80MP0005167_abnormal_blood-brain_barrier1.25088107
81MP0001905_abnormal_dopamine_level1.24996086
82MP0005275_abnormal_skin_tensile1.24584455
83MP0003091_abnormal_cell_migration1.24564462
84MP0002184_abnormal_innervation1.23994382
85MP0008569_lethality_at_weaning1.22912629
86MP0004145_abnormal_muscle_electrophysio1.22233780
87MP0002419_abnormal_innate_immunity1.21811306
88MP0003631_nervous_system_phenotype1.21406873
89MP0004811_abnormal_neuron_physiology1.21019240
90MP0005023_abnormal_wound_healing1.19215170
91MP0005535_abnormal_body_temperature1.19002493
92MP0003183_abnormal_peptide_metabolism1.18722549
93MP0000733_abnormal_muscle_development1.18704975
94MP0004947_skin_inflammation1.15574560
95MP0003656_abnormal_erythrocyte_physiolo1.14685721
96MP0002139_abnormal_hepatobiliary_system1.13922193
97MP0005164_abnormal_response_to1.13414279
98MP0004084_abnormal_cardiac_muscle1.13283371
99MP0002882_abnormal_neuron_morphology1.12640563
100MP0006138_congestive_heart_failure1.11287793
101MP0000858_altered_metastatic_potential1.10949023
102MP0004036_abnormal_muscle_relaxation1.10826907
103MP0001533_abnormal_skeleton_physiology1.08819371
104MP0001502_abnormal_circadian_rhythm1.08478762
105MP0004484_altered_response_of1.08045589
106MP0003137_abnormal_impulse_conducting1.07182072
107MP0005501_abnormal_skin_physiology1.05074553
108MP0006054_spinal_hemorrhage1.04854759
109MP0005360_urolithiasis1.04409296
110MP0001915_intracranial_hemorrhage1.03965987
111MP0001853_heart_inflammation1.01855178
112MP0003879_abnormal_hair_cell1.01551273
113MP0005085_abnormal_gallbladder_physiolo1.00283460
114MP0003632_abnormal_nervous_system1.00039843
115MP0000343_altered_response_to0.98083458
116MP0005451_abnormal_body_composition0.97719934
117MP0005076_abnormal_cell_differentiation0.97706208
118MP0004142_abnormal_muscle_tone0.97606662
119MP0004215_abnormal_myocardial_fiber0.97272549
120MP0000377_abnormal_hair_follicle0.97009451
121MP0005620_abnormal_muscle_contractility0.96121014
122MP0010329_abnormal_lipoprotein_level0.95958907
123MP0005645_abnormal_hypothalamus_physiol0.95851606
124MP0002148_abnormal_hypersensitivity_rea0.95681428
125MP0004742_abnormal_vestibular_system0.95664864
126MP0005257_abnormal_intraocular_pressure0.95529497
127MP0004272_abnormal_basement_membrane0.95371484
128MP0002098_abnormal_vibrissa_morphology0.95029159
129MP0008874_decreased_physiological_sensi0.94432255
130MP0008438_abnormal_cutaneous_collagen0.92222652
131MP0002118_abnormal_lipid_homeostasis0.92169286
132MP0002106_abnormal_muscle_physiology0.92162059
133MP0004185_abnormal_adipocyte_glucose0.92076242
134MP0005330_cardiomyopathy0.91923800
135MP0005369_muscle_phenotype0.91916649
136MP0002557_abnormal_social/conspecific_i0.90749381
137MP0010630_abnormal_cardiac_muscle0.90741960
138MP0002229_neurodegeneration0.89124480
139MP0004087_abnormal_muscle_fiber0.87452198
140MP0001849_ear_inflammation0.87171710
141MP0002876_abnormal_thyroid_physiology0.85305175
142MP0001984_abnormal_olfaction0.84655939
143MP0000749_muscle_degeneration0.84587277
144MP0002090_abnormal_vision0.83573072
145MP0002971_abnormal_brown_adipose0.83561548
146MP0002269_muscular_atrophy0.82970648
147MP0000427_abnormal_hair_cycle0.82750985
148MP0005332_abnormal_amino_acid0.82182007
149MP0000569_abnormal_digit_pigmentation0.82134222
150MP0004085_abnormal_heartbeat0.81679716
151MP0005166_decreased_susceptibility_to0.81293685
152MP0005365_abnormal_bile_salt0.80724198
153MP0002332_abnormal_exercise_endurance0.80085077
154MP0001177_atelectasis0.78635235
155MP0003172_abnormal_lysosome_physiology0.78290686
156MP0002152_abnormal_brain_morphology0.77990294
157MP0005319_abnormal_enzyme/_coenzyme0.77862698
158MP0005165_increased_susceptibility_to0.77361948
159MP0003221_abnormal_cardiomyocyte_apopto0.77209149
160MP0004883_abnormal_blood_vessel0.76298363
161MP0005584_abnormal_enzyme/coenzyme_acti0.75847901
162MP0002972_abnormal_cardiac_muscle0.75468522
163MP0003195_calcinosis0.74474924
164MP0001299_abnormal_eye_distance/0.73522301
165MP0004264_abnormal_extraembryonic_tissu0.72723231
166MP0009785_altered_susceptibility_to0.72682296
167MP0008057_abnormal_DNA_replication0.72590164
168MP0009764_decreased_sensitivity_to0.72467075
169MP0001542_abnormal_bone_strength0.72376517
170MP0000762_abnormal_tongue_morphology0.71160619

Predicted human phenotypes

RankGene SetZ-score
1Nemaline bodies (HP:0003798)5.43702286
2Focal motor seizures (HP:0011153)5.20945637
3Neurofibrillary tangles (HP:0002185)4.38305124
4Abnormality of glycolipid metabolism (HP:0010969)4.35759573
5Abnormality of liposaccharide metabolism (HP:0010968)4.35759573
6Abnormality of glycosphingolipid metabolism (HP:0004343)4.35759573
7Myokymia (HP:0002411)4.34827871
8Supranuclear gaze palsy (HP:0000605)4.26539183
9Cerebral inclusion bodies (HP:0100314)3.75820905
10Type 1 muscle fiber predominance (HP:0003803)3.73456040
11Focal seizures (HP:0007359)3.67301419
12Mutism (HP:0002300)3.46424224
13Distal lower limb muscle weakness (HP:0009053)3.45212954
14Asymmetric septal hypertrophy (HP:0001670)3.24302216
15Ankle clonus (HP:0011448)3.22229182
16Vacuolated lymphocytes (HP:0001922)3.21448130
17Action tremor (HP:0002345)3.19976390
18Abnormality of macrophages (HP:0004311)3.15872473
19Visual hallucinations (HP:0002367)3.15321678
20Exercise-induced myalgia (HP:0003738)3.09246615
21Muscle fiber splitting (HP:0003555)3.04806938
22Generalized tonic-clonic seizures (HP:0002069)3.03240218
23Recurrent bacterial skin infections (HP:0005406)2.98217898
24Eczematoid dermatitis (HP:0000976)2.96413507
25Abnormality of the corticospinal tract (HP:0002492)2.95643133
26Right ventricular cardiomyopathy (HP:0011663)2.93735740
27Hyperglycinemia (HP:0002154)2.82616690
28Progressive cerebellar ataxia (HP:0002073)2.81835665
29Ventricular fibrillation (HP:0001663)2.81513482
30Atonic seizures (HP:0010819)2.81505748
31Dysmetria (HP:0001310)2.78743674
32Abnormality of the left ventricular outflow tract (HP:0011103)2.77409280
33Subaortic stenosis (HP:0001682)2.77409280
34Distal arthrogryposis (HP:0005684)2.77337171
35Frequent falls (HP:0002359)2.71051237
36Dialeptic seizures (HP:0011146)2.70296433
37Absence seizures (HP:0002121)2.69189903
38Malnutrition (HP:0004395)2.68967293
39Epileptic encephalopathy (HP:0200134)2.67656696
40Insidious onset (HP:0003587)2.66260991
41Termporal pattern (HP:0011008)2.66260991
42Disinhibition (HP:0000734)2.65644939
43Bundle branch block (HP:0011710)2.61349701
44Urinary bladder sphincter dysfunction (HP:0002839)2.60682013
45Urinary urgency (HP:0000012)2.58529723
46Abnormal eating behavior (HP:0100738)2.57814693
47Increased connective tissue (HP:0009025)2.55950676
48Polyphagia (HP:0002591)2.53297623
49Pheochromocytoma (HP:0002666)2.53263993
50Genetic anticipation (HP:0003743)2.53209685
51Rhabdomyolysis (HP:0003201)2.49279386
52Excessive salivation (HP:0003781)2.49100436
53Drooling (HP:0002307)2.49100436
54Recurrent abscess formation (HP:0002722)2.48971901
55Recurrent gram-negative bacterial infections (HP:0005420)2.48287752
56Loss of speech (HP:0002371)2.47037901
57Calf muscle hypertrophy (HP:0008981)2.46595632
58Broad-based gait (HP:0002136)2.46237629
59Osteolytic defects of the hand bones (HP:0009699)2.45590920
60Osteolytic defects of the phalanges of the hand (HP:0009771)2.45590920
61Impaired social interactions (HP:0000735)2.45167935
62Abnormal social behavior (HP:0012433)2.45167935
63Myocardial infarction (HP:0001658)2.43690211
64Hyperventilation (HP:0002883)2.43011762
65Thick nail (HP:0001805)2.41204033
66Neck muscle weakness (HP:0000467)2.40659210
67Abnormality of the calf musculature (HP:0001430)2.39110588
68Spastic tetraparesis (HP:0001285)2.37626340
69Difficulty running (HP:0009046)2.36608759
70Intention tremor (HP:0002080)2.36295176
71Spastic gait (HP:0002064)2.36200680
72Dysostosis multiplex (HP:0000943)2.34831077
73Tetraparesis (HP:0002273)2.33468886
74Abnormality of the Achilles tendon (HP:0005109)2.30142357
75Centrally nucleated skeletal muscle fibers (HP:0003687)2.30118843
76Atrioventricular block (HP:0001678)2.29769402
77Achilles tendon contracture (HP:0001771)2.29736563
78Sudden death (HP:0001699)2.27758383
79Myoglobinuria (HP:0002913)2.27453668
80Ulnar deviation of the wrist (HP:0003049)2.24061700
81Lower limb muscle weakness (HP:0007340)2.23263194
82Febrile seizures (HP:0002373)2.22695982
83Abnormality of skeletal muscle fiber size (HP:0012084)2.22113757
84Hemiparesis (HP:0001269)2.22043509
85Postural instability (HP:0002172)2.21551179
86Abnormality of glycine metabolism (HP:0010895)2.21358200
87Abnormality of serine family amino acid metabolism (HP:0010894)2.21358200
88Syncope (HP:0001279)2.20871619
89Dysdiadochokinesis (HP:0002075)2.19820131
90Hyporeflexia of lower limbs (HP:0002600)2.16998979
91Myopathic facies (HP:0002058)2.16365486
92Cerebral hemorrhage (HP:0001342)2.16110490
93Mitral stenosis (HP:0001718)2.15827727
94Progressive inability to walk (HP:0002505)2.15397753
95Axonal loss (HP:0003447)2.14740135
96Poor eye contact (HP:0000817)2.13368108
97Megalencephaly (HP:0001355)2.13050681
98Hyperglycinuria (HP:0003108)2.11064363
99Papillary thyroid carcinoma (HP:0002895)2.10999788
100Vertebral compression fractures (HP:0002953)2.10746835
101Akinesia (HP:0002304)2.10383037
102Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.08620543
103Degeneration of the lateral corticospinal tracts (HP:0002314)2.08620543
104Atrophic scars (HP:0001075)2.07899027
105Distal lower limb amyotrophy (HP:0008944)2.07353211
106Diplopia (HP:0000651)2.07320948
107Abnormality of binocular vision (HP:0011514)2.07320948
108Clumsiness (HP:0002312)2.05270859
109Round ear (HP:0100830)2.05240929
110Rapidly progressive (HP:0003678)2.05006690
111Abnormality of polysaccharide metabolism (HP:0011012)2.04479314
112Abnormality of glycosaminoglycan metabolism (HP:0004371)2.04479314
113Abnormality of mucopolysaccharide metabolism (HP:0011020)2.04479314
114Neuroendocrine neoplasm (HP:0100634)2.04101158
115Scanning speech (HP:0002168)2.03382903
116Subacute progressive viral hepatitis (HP:0006572)2.01805508
117Impaired vibration sensation in the lower limbs (HP:0002166)2.01081543
118EMG: myopathic abnormalities (HP:0003458)2.00825641
119Mucopolysacchariduria (HP:0008155)2.00306480
120Urinary glycosaminoglycan excretion (HP:0003541)2.00306480
121Status epilepticus (HP:0002133)2.00116968
122Heart block (HP:0012722)1.99543530
123Hypoalphalipoproteinemia (HP:0003233)1.97450423
124Torticollis (HP:0000473)1.97300908
125Ventricular tachycardia (HP:0004756)1.94661265
126Milia (HP:0001056)1.94222659
127Muscle hypertrophy of the lower extremities (HP:0008968)1.94044522
128Short nail (HP:0001799)1.94022794
129Hyperlipoproteinemia (HP:0010980)1.93713505
130Increased variability in muscle fiber diameter (HP:0003557)1.93518343
131Complement deficiency (HP:0004431)1.93223154
132Exercise-induced muscle cramps (HP:0003710)1.92985295
133Generalized myoclonic seizures (HP:0002123)1.92765913
134Xanthomatosis (HP:0000991)1.92033466
135Abnormality of the distal phalanges of the toes (HP:0010182)1.90640809
136Amyloidosis (HP:0011034)1.90291583
137Onion bulb formation (HP:0003383)1.90217530
138Neuronal loss in central nervous system (HP:0002529)1.89731809
139Deep venous thrombosis (HP:0002625)1.89006411
140Fetal akinesia sequence (HP:0001989)1.88777868
141Areflexia of lower limbs (HP:0002522)1.88011562
142Hemiplegia (HP:0002301)1.87825810
143Global brain atrophy (HP:0002283)1.87472469
144Morphological abnormality of the pyramidal tract (HP:0002062)1.87287374
145Curly hair (HP:0002212)1.87217563
146Abnormal atrioventricular conduction (HP:0005150)1.87100511
147Muscle fiber inclusion bodies (HP:0100299)1.87015912
148Flat acetabular roof (HP:0003180)1.86046139
149Anxiety (HP:0000739)1.84945355
150Amblyopia (HP:0000646)1.84601453
151Bulbar palsy (HP:0001283)1.84344866
152Clonus (HP:0002169)1.83411913
153Delusions (HP:0000746)1.82739681
154Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)1.82161805
155Increased cerebral lipofuscin (HP:0011813)1.80665397
156Rigidity (HP:0002063)1.79868631
157Inability to walk (HP:0002540)1.79571146
158Difficulty climbing stairs (HP:0003551)1.78991553
159Myotonia (HP:0002486)1.78795378
160Alopecia of scalp (HP:0002293)1.77748682
161Fragile nails (HP:0001808)1.76361500
162Plantar hyperkeratosis (HP:0007556)1.74794096
163Abnormality of the vasculature of the conjunctiva (HP:0008054)1.73184186
164Increased neuronal autofluorescent lipopigment (HP:0002074)1.73011653
165Vascular calcification (HP:0004934)1.68729617
166Resting tremor (HP:0002322)1.68513284
167Hypoplasia of dental enamel (HP:0006297)1.67804732
168Bilateral sensorineural hearing impairment (HP:0008619)1.67614914
169Cardiovascular calcification (HP:0011915)1.65771269
170Pathologic fracture (HP:0002756)1.63289660
171Increased CSF protein (HP:0002922)1.60355406
172Generalized muscle weakness (HP:0003324)1.60020858
173Facial diplegia (HP:0001349)1.59456415
174Prolonged neonatal jaundice (HP:0006579)1.57268965
175Muscle stiffness (HP:0003552)1.56837574
176Cone-rod dystrophy (HP:0000548)1.56836769
177Periodontitis (HP:0000704)1.55810617
178Ovoid vertebral bodies (HP:0003300)1.55288576
179Coarse hair (HP:0002208)1.54794091
180Premature loss of primary teeth (HP:0006323)1.54738362
181Arterial tortuosity (HP:0005116)1.54573189
182Progressive neurologic deterioration (HP:0002344)1.53994089

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK14.18428850
2MAP3K93.53658719
3EPHA43.47982858
4STK242.73959929
5RIPK42.72604376
6NTRK32.71975601
7PHKG22.65735738
8PHKG12.65735738
9MAP3K32.38041786
10KSR22.22922085
11PAK62.22730783
12DAPK22.21085621
13MAP2K42.17806488
14TGFBR22.15151965
15MAP3K42.12601779
16ARAF2.11705272
17PIK3CG2.08169209
18MAP2K32.06063703
19IRAK31.92880670
20EPHA21.90836146
21MINK11.86495948
22NTRK11.86124972
23NTRK21.72720490
24MAP2K71.61304249
25MAP3K141.60739983
26MST1R1.60196337
27LATS21.52017344
28KSR11.45526042
29CSK1.44616952
30MOS1.43254751
31GRK51.43069087
32BLK1.39115136
33STK391.34544561
34PNCK1.33822688
35TRPM71.32949863
36RIPK11.32808926
37MAP3K21.31209144
38CDK51.28200687
39CAMKK11.26773326
40MET1.26392520
41STK38L1.26273292
42GRK71.26261462
43NEK91.24884768
44CASK1.24000505
45YES11.22061236
46TYK21.13626141
47EIF2AK31.13278394
48DYRK21.11772756
49IRAK21.10852625
50TYRO31.10784094
51IRAK41.08514166
52BRD41.07922328
53MST41.07465744
54PLK21.06548011
55OXSR11.05676133
56PKN11.05474111
57PDPK11.05264547
58PAK31.04186824
59MAPK121.03770671
60PAK41.01957877
61TRIB31.00109285
62ERN10.99733584
63DMPK0.99576098
64FGR0.99178987
65MUSK0.97720744
66STK110.97499459
67CAMK1D0.96856000
68ABL20.96341696
69LMTK20.96232549
70CAMK2G0.95358247
71STK30.94650916
72NEK60.94512065
73OBSCN0.94132663
74PINK10.92818566
75PTK20.92386140
76CAMK2A0.92028093
77DDR20.90639702
78CDK60.90592852
79CAMK2B0.90589760
80MAP3K60.89908889
81SIK10.89769563
82PRKAA20.89613519
83SGK4940.88840661
84SGK2230.88840661
85MAPK130.88768875
86TAOK10.88299073
87CSNK1G20.88082322
88PBK0.87869393
89PDGFRA0.87319983
90ICK0.87267627
91IRAK10.86535060
92STK380.86185989
93MAP3K130.85122753
94PRKCG0.84578396
95SGK20.83591614
96FES0.82862079
97TAOK20.82830085
98SIK20.81918661
99PRKD30.80611101
100PRKCZ0.79820463
101MARK20.78335675
102MAP3K120.77444331
103RET0.76741714
104CAMK1G0.76736932
105PRKCE0.76125738
106PDGFRB0.75669104
107TBK10.74570608
108MAPK70.73963010
109TTN0.72873936
110CAMK2D0.72221134
111FGFR20.71994427
112ZAP700.71875821
113AKT30.71543962
114WNK10.70990595
115MAP3K50.69324823
116CHUK0.67877528
117PDK20.66633051
118ACVR1B0.65288958
119CDK140.64878287
120ALK0.64693014
121MAP3K10.64634602
122PDK10.64253036
123STK100.60794556
124JAK10.60750318
125BMPR20.60290535
126LRRK20.58705320
127PRPF4B0.57726682
128DYRK1A0.57509151
129RAF10.57362930
130SGK10.57128103
131BRAF0.56488977
132EPHB10.56257193
133CDK150.55393172
134CDK120.53341250
135NME10.53104708
136MATK0.52035287
137PRKAA10.51826655
138ERBB40.51780130
139LATS10.51700841
140MTOR0.51692910
141CAMKK20.50963225
142CDK180.50699301
143BMX0.49016902
144SGK30.48627854
145UHMK10.48045225
146TNIK0.47583081
147MELK0.47580652
148CAMK10.47561310
149DAPK30.46028819
150CDK90.45722695
151PTK60.45234550
152GSK3A0.43851235
153MAP2K10.42946540
154RPS6KA20.42272328
155CDK11A0.41648644
156ERBB30.41287097
157ROCK20.40025081
158CSNK1G30.39961912
159PRKD10.39687841
160FER0.39339882
161FYN0.39021631

Predicted pathways (KEGG)

RankGene SetZ-score
1Nitrogen metabolism_Homo sapiens_hsa009102.73519575
2Other glycan degradation_Homo sapiens_hsa005112.68560638
3Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.37761847
4Nicotine addiction_Homo sapiens_hsa050332.25594836
5Synaptic vesicle cycle_Homo sapiens_hsa047212.21785031
6Vitamin B6 metabolism_Homo sapiens_hsa007502.11787612
7GABAergic synapse_Homo sapiens_hsa047272.02155473
8Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.93933396
9Amoebiasis_Homo sapiens_hsa051461.90934045
10Sphingolipid metabolism_Homo sapiens_hsa006001.88957635
11Osteoclast differentiation_Homo sapiens_hsa043801.85150188
12Glycosaminoglycan degradation_Homo sapiens_hsa005311.78957611
13Glutamatergic synapse_Homo sapiens_hsa047241.73409832
14Legionellosis_Homo sapiens_hsa051341.69911411
15Tuberculosis_Homo sapiens_hsa051521.69534406
16Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.69367548
17Circadian entrainment_Homo sapiens_hsa047131.63869814
18Morphine addiction_Homo sapiens_hsa050321.59213530
19Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.56427507
20Long-term potentiation_Homo sapiens_hsa047201.51200803
21Butanoate metabolism_Homo sapiens_hsa006501.51148775
22Galactose metabolism_Homo sapiens_hsa000521.49001436
23Olfactory transduction_Homo sapiens_hsa047401.46073128
24Leishmaniasis_Homo sapiens_hsa051401.45420534
25Toll-like receptor signaling pathway_Homo sapiens_hsa046201.45198618
26Circadian rhythm_Homo sapiens_hsa047101.43033055
27Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.40962397
28Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.36229531
29Collecting duct acid secretion_Homo sapiens_hsa049661.34096319
30Salivary secretion_Homo sapiens_hsa049701.32507152
31Arginine biosynthesis_Homo sapiens_hsa002201.32421885
32Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.31974303
33Insulin resistance_Homo sapiens_hsa049311.31254895
34Dopaminergic synapse_Homo sapiens_hsa047281.31128366
35Amphetamine addiction_Homo sapiens_hsa050311.27898579
36Gastric acid secretion_Homo sapiens_hsa049711.27445709
37Adherens junction_Homo sapiens_hsa045201.25960832
38Primary bile acid biosynthesis_Homo sapiens_hsa001201.24438993
39Proteoglycans in cancer_Homo sapiens_hsa052051.23707065
40Mineral absorption_Homo sapiens_hsa049781.23311728
41Thyroid cancer_Homo sapiens_hsa052161.22790016
42Endometrial cancer_Homo sapiens_hsa052131.21965482
43NOD-like receptor signaling pathway_Homo sapiens_hsa046211.21590735
44Cholinergic synapse_Homo sapiens_hsa047251.20784065
45Bile secretion_Homo sapiens_hsa049761.20124765
46Long-term depression_Homo sapiens_hsa047301.18468043
47Pertussis_Homo sapiens_hsa051331.17925720
48Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.17901304
49Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.16418835
50Hepatitis C_Homo sapiens_hsa051601.12124767
51Leukocyte transendothelial migration_Homo sapiens_hsa046701.12066916
52Toxoplasmosis_Homo sapiens_hsa051451.07452489
53Oxytocin signaling pathway_Homo sapiens_hsa049211.06805483
54Regulation of autophagy_Homo sapiens_hsa041401.06424449
55TNF signaling pathway_Homo sapiens_hsa046681.06323486
56Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.05454581
57Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.05344420
58Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.04964357
59Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.04914896
60Insulin secretion_Homo sapiens_hsa049111.03114847
61Prion diseases_Homo sapiens_hsa050201.02263680
62GnRH signaling pathway_Homo sapiens_hsa049121.01907466
63Malaria_Homo sapiens_hsa051441.01652086
64Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.01629763
65Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.01091929
66Type II diabetes mellitus_Homo sapiens_hsa049300.99966756
67Focal adhesion_Homo sapiens_hsa045100.99856644
68Cardiac muscle contraction_Homo sapiens_hsa042600.99807049
69Bladder cancer_Homo sapiens_hsa052190.98528050
70Serotonergic synapse_Homo sapiens_hsa047260.98463517
71AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.97647954
72Dorso-ventral axis formation_Homo sapiens_hsa043200.97434823
73Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.96890934
74FoxO signaling pathway_Homo sapiens_hsa040680.96705249
75Cocaine addiction_Homo sapiens_hsa050300.94100836
76Aldosterone synthesis and secretion_Homo sapiens_hsa049250.93551879
77Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.93334875
78Salmonella infection_Homo sapiens_hsa051320.91857161
79Prostate cancer_Homo sapiens_hsa052150.91466333
80Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.90926108
81Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.90809867
82Axon guidance_Homo sapiens_hsa043600.90215461
83Glycerophospholipid metabolism_Homo sapiens_hsa005640.89867858
84Calcium signaling pathway_Homo sapiens_hsa040200.89655728
85Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.88134349
86Small cell lung cancer_Homo sapiens_hsa052220.87814184
87Regulation of actin cytoskeleton_Homo sapiens_hsa048100.87613648
88Renin secretion_Homo sapiens_hsa049240.87160774
89Chronic myeloid leukemia_Homo sapiens_hsa052200.86118872
90Dilated cardiomyopathy_Homo sapiens_hsa054140.85503782
91Taste transduction_Homo sapiens_hsa047420.85459176
92Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.85316096
93Thyroid hormone signaling pathway_Homo sapiens_hsa049190.85250377
94Inositol phosphate metabolism_Homo sapiens_hsa005620.84020334
95Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.82566357
96Gap junction_Homo sapiens_hsa045400.82009932
97Neurotrophin signaling pathway_Homo sapiens_hsa047220.81694890
98Pancreatic cancer_Homo sapiens_hsa052120.81283839
99Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.79872502
100cAMP signaling pathway_Homo sapiens_hsa040240.78790651
101Steroid biosynthesis_Homo sapiens_hsa001000.78141974
102Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.77947128
103Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.77078884
104Tight junction_Homo sapiens_hsa045300.77012843
105ErbB signaling pathway_Homo sapiens_hsa040120.76710619
106Lysosome_Homo sapiens_hsa041420.75912204
1072-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.75650762
108HIF-1 signaling pathway_Homo sapiens_hsa040660.75465320
109Renal cell carcinoma_Homo sapiens_hsa052110.75057492
110Estrogen signaling pathway_Homo sapiens_hsa049150.74866625
111Acute myeloid leukemia_Homo sapiens_hsa052210.74849990
112AMPK signaling pathway_Homo sapiens_hsa041520.73302695
113Influenza A_Homo sapiens_hsa051640.71009699
114Non-small cell lung cancer_Homo sapiens_hsa052230.70416031
115Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.70268632
116Vascular smooth muscle contraction_Homo sapiens_hsa042700.67760047
117Adipocytokine signaling pathway_Homo sapiens_hsa049200.67732032
118Glucagon signaling pathway_Homo sapiens_hsa049220.65121819
119Glioma_Homo sapiens_hsa052140.64989151
120Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.64938939
121Prolactin signaling pathway_Homo sapiens_hsa049170.63580510
122Fatty acid biosynthesis_Homo sapiens_hsa000610.63330733
123PPAR signaling pathway_Homo sapiens_hsa033200.62176307
124ECM-receptor interaction_Homo sapiens_hsa045120.61570327
125Complement and coagulation cascades_Homo sapiens_hsa046100.60579815
126Phospholipase D signaling pathway_Homo sapiens_hsa040720.60483656
127Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.60336713
128Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.60261411
129Vibrio cholerae infection_Homo sapiens_hsa051100.59758321
130VEGF signaling pathway_Homo sapiens_hsa043700.57682484
131Hepatitis B_Homo sapiens_hsa051610.56332898
132Choline metabolism in cancer_Homo sapiens_hsa052310.56298943
133Fatty acid metabolism_Homo sapiens_hsa012120.56157815
134Sphingolipid signaling pathway_Homo sapiens_hsa040710.56068060
135Rheumatoid arthritis_Homo sapiens_hsa053230.56023293
136Fructose and mannose metabolism_Homo sapiens_hsa000510.55934764
137Chemokine signaling pathway_Homo sapiens_hsa040620.55013629
138Endocytosis_Homo sapiens_hsa041440.54920963
139Sulfur metabolism_Homo sapiens_hsa009200.54175815
140beta-Alanine metabolism_Homo sapiens_hsa004100.53513259
141Staphylococcus aureus infection_Homo sapiens_hsa051500.53424704
142Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.53366949
143Vitamin digestion and absorption_Homo sapiens_hsa049770.53321909
144cGMP-PKG signaling pathway_Homo sapiens_hsa040220.53248981
145Shigellosis_Homo sapiens_hsa051310.52634206
146Pentose phosphate pathway_Homo sapiens_hsa000300.52174862
147Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.50817810
148Insulin signaling pathway_Homo sapiens_hsa049100.49969005
149MicroRNAs in cancer_Homo sapiens_hsa052060.49772633
150Fatty acid elongation_Homo sapiens_hsa000620.49350165
151Phagosome_Homo sapiens_hsa041450.49278139
152Propanoate metabolism_Homo sapiens_hsa006400.49084438
153Longevity regulating pathway - mammal_Homo sapiens_hsa042110.48685549
154Melanogenesis_Homo sapiens_hsa049160.48285825
155Platelet activation_Homo sapiens_hsa046110.47333649
156Central carbon metabolism in cancer_Homo sapiens_hsa052300.46856465
157Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.46660477
158Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.46406531
159Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.45745142
160Carbohydrate digestion and absorption_Homo sapiens_hsa049730.45523828
161Thyroid hormone synthesis_Homo sapiens_hsa049180.44527778
162Ovarian steroidogenesis_Homo sapiens_hsa049130.44061105
163Phosphatidylinositol signaling system_Homo sapiens_hsa040700.43468689
164Peroxisome_Homo sapiens_hsa041460.43165982
165Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.42716801
166Alzheimers disease_Homo sapiens_hsa050100.42331081
167Notch signaling pathway_Homo sapiens_hsa043300.42313074
168Jak-STAT signaling pathway_Homo sapiens_hsa046300.41773172
169mTOR signaling pathway_Homo sapiens_hsa041500.41163766
170Fatty acid degradation_Homo sapiens_hsa000710.40938852
171TGF-beta signaling pathway_Homo sapiens_hsa043500.40934867
172MAPK signaling pathway_Homo sapiens_hsa040100.40644449

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