PKD2L1

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





Description: This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1fatty acid elongation (GO:0030497)7.35506572
2oligosaccharide catabolic process (GO:0009313)6.10616702
3glycosphingolipid catabolic process (GO:0046479)6.07869206
4myelination (GO:0042552)5.76689350
5axon ensheathment (GO:0008366)5.76637707
6ensheathment of neurons (GO:0007272)5.76637707
7myelin maintenance (GO:0043217)5.58111445
8glycolipid catabolic process (GO:0019377)5.45188737
9establishment of mitochondrion localization (GO:0051654)5.17612689
10amino sugar catabolic process (GO:0046348)5.16391127
11ceramide catabolic process (GO:0046514)4.86733619
12negative regulation of interleukin-12 production (GO:0032695)4.81622901
13cellular response to thyroid hormone stimulus (GO:0097067)4.71235547
14piRNA metabolic process (GO:0034587)4.62048216
15long-chain fatty acid biosynthetic process (GO:0042759)4.61014776
16response to methylmercury (GO:0051597)4.57429456
17regulation of cholesterol storage (GO:0010885)4.42793220
18negative regulation of neurotransmitter transport (GO:0051589)4.41838173
19response to peptidoglycan (GO:0032494)4.39445647
20long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)4.22690277
21neutrophil activation involved in immune response (GO:0002283)4.21101077
22regulation of mononuclear cell migration (GO:0071675)4.20158675
23lateral sprouting from an epithelium (GO:0060601)4.16255994
24oligodendrocyte differentiation (GO:0048709)4.09107013
25astrocyte development (GO:0014002)4.07286613
26DNA methylation involved in gamete generation (GO:0043046)4.07020098
27long-chain fatty-acyl-CoA metabolic process (GO:0035336)4.05148375
28negative regulation of neurotransmitter secretion (GO:0046929)4.04654151
29creatine metabolic process (GO:0006600)3.98173527
30regulation of interleukin-13 production (GO:0032656)3.96351810
31positive regulation of oligodendrocyte differentiation (GO:0048714)3.95199913
32N-acetylneuraminate metabolic process (GO:0006054)3.87261715
33sphingolipid catabolic process (GO:0030149)3.85797789
34membrane lipid catabolic process (GO:0046466)3.85136040
35macrophage activation involved in immune response (GO:0002281)3.83632450
36asymmetric protein localization (GO:0008105)3.83407789
37amyloid precursor protein metabolic process (GO:0042982)3.82803180
38fatty-acyl-CoA biosynthetic process (GO:0046949)3.79891827
39protein polyglutamylation (GO:0018095)3.76269223
40positive regulation of chemokine secretion (GO:0090197)3.73970371
41response to lipoprotein particle (GO:0055094)3.73769096
42glycerophospholipid catabolic process (GO:0046475)3.71949613
43response to thyroid hormone (GO:0097066)3.71535372
44regulation of cilium movement (GO:0003352)3.68887927
45apical protein localization (GO:0045176)3.63399452
46positive regulation of leukocyte degranulation (GO:0043302)3.62675645
47positive regulation of mast cell degranulation (GO:0043306)3.60103912
48positive regulation of mast cell activation involved in immune response (GO:0033008)3.60103912
49myeloid dendritic cell differentiation (GO:0043011)3.59793392
50negative regulation of protein localization to cell surface (GO:2000009)3.59353328
51male meiosis (GO:0007140)3.58579854
52regulation of collateral sprouting (GO:0048670)3.58571558
53fatty-acyl-CoA metabolic process (GO:0035337)3.46938737
54lipopolysaccharide-mediated signaling pathway (GO:0031663)3.46140454
55immunoglobulin mediated immune response (GO:0016064)3.44826589
56positive regulation of monocyte chemotaxis (GO:0090026)3.43646659
57regulation of mast cell degranulation (GO:0043304)3.42252691
58positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)3.40766015
59negative regulation of nitric oxide biosynthetic process (GO:0045019)3.40318141
60negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)3.39325431
61regulation of response to osmotic stress (GO:0047484)3.38404274
62positive regulation of cholesterol efflux (GO:0010875)3.37714045
63cholesterol biosynthetic process (GO:0006695)3.36150913
64regulation of chemokine secretion (GO:0090196)3.35884189
65positive regulation of mast cell activation (GO:0033005)3.34457629
66negative regulation of macroautophagy (GO:0016242)3.32720828
67positive regulation of cellular amide metabolic process (GO:0034250)3.32485745
68membrane tubulation (GO:0097320)3.32304281
69detection of molecule of bacterial origin (GO:0032490)3.29385197
70Sertoli cell development (GO:0060009)3.27856331
71T-helper 1 type immune response (GO:0042088)3.26909394
72sterol biosynthetic process (GO:0016126)3.25233602
73L-amino acid import (GO:0043092)3.25022020
74regulation of somitogenesis (GO:0014807)3.22651369
75microtubule severing (GO:0051013)3.22471661
76establishment of mitotic spindle localization (GO:0040001)3.22006017
77regulation of lipoprotein metabolic process (GO:0050746)3.21637438
78GPI anchor biosynthetic process (GO:0006506)3.21525142
79regulation of microtubule-based movement (GO:0060632)3.20612666
80ganglioside metabolic process (GO:0001573)3.20561886
81regulation of macrophage chemotaxis (GO:0010758)3.19348404
82regulation of leukocyte degranulation (GO:0043300)3.18390658
83regulation of mast cell activation involved in immune response (GO:0033006)3.18113482
84positive regulation of myeloid leukocyte mediated immunity (GO:0002888)3.17236531
85GPI anchor metabolic process (GO:0006505)3.15310606
86establishment of mitotic spindle orientation (GO:0000132)3.13017767
87myeloid dendritic cell activation (GO:0001773)3.11359165
88acrosome assembly (GO:0001675)3.11304729
89fusion of sperm to egg plasma membrane (GO:0007342)3.10890508
90microtubule polymerization or depolymerization (GO:0031109)3.07311252
91positive regulation of membrane protein ectodomain proteolysis (GO:0051044)3.06972856
92plasma lipoprotein particle clearance (GO:0034381)3.05860637
93adhesion of symbiont to host cell (GO:0044650)3.03868593
94virion attachment to host cell (GO:0019062)3.03868593
95enteric nervous system development (GO:0048484)3.02554186
96heme transport (GO:0015886)3.02018057
97interferon-gamma-mediated signaling pathway (GO:0060333)3.00368108
98phagosome maturation (GO:0090382)2.98123373
99low-density lipoprotein particle clearance (GO:0034383)2.97962156
100photoreceptor cell differentiation (GO:0046530)2.97479717
101eye photoreceptor cell differentiation (GO:0001754)2.97479717
102regulation of myeloid leukocyte mediated immunity (GO:0002886)2.96579884
103positive regulation of gamma-delta T cell activation (GO:0046645)2.96235162
104regulation of cytokine secretion involved in immune response (GO:0002739)2.96178363
105positive regulation of chemokine biosynthetic process (GO:0045080)2.95899601
106monocyte chemotaxis (GO:0002548)2.94349959
107granulocyte activation (GO:0036230)2.94327097
108nonmotile primary cilium assembly (GO:0035058)2.94135647
109acrosome reaction (GO:0007340)2.94101882
110acyl-CoA biosynthetic process (GO:0071616)2.93722798
111thioester biosynthetic process (GO:0035384)2.93722798
112positive regulation of gliogenesis (GO:0014015)2.92683735
113apoptotic cell clearance (GO:0043277)2.92333889
114positive regulation of antigen processing and presentation (GO:0002579)2.92284555
115barbed-end actin filament capping (GO:0051016)2.91575355
116regulation of cholesterol esterification (GO:0010872)2.91417835
117very long-chain fatty acid metabolic process (GO:0000038)2.91162730
118adenosine receptor signaling pathway (GO:0001973)2.88504682
119cellular response to arsenic-containing substance (GO:0071243)2.88111865
120glycine transport (GO:0015816)2.88084542
121regulation of T-helper 2 cell differentiation (GO:0045628)2.87881274
122peptide catabolic process (GO:0043171)2.86932510
123regulation of vitamin D biosynthetic process (GO:0060556)2.86255068
124low-density lipoprotein particle remodeling (GO:0034374)2.86182775
125organ growth (GO:0035265)2.85711961
126phospholipid efflux (GO:0033700)2.85475909
127positive regulation of glial cell differentiation (GO:0045687)2.85389493
128regulation of superoxide anion generation (GO:0032928)2.84039274
129sperm capacitation (GO:0048240)2.81661333
130adhesion of symbiont to host (GO:0044406)2.81347190
131mitochondrion transport along microtubule (GO:0047497)2.81120856
132establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.81120856
133lytic vacuole organization (GO:0080171)2.81026234
134lysosome organization (GO:0007040)2.81026234
135macrophage activation (GO:0042116)2.79491846
136positive regulation of pseudopodium assembly (GO:0031274)2.79308163
137regulation of toll-like receptor 4 signaling pathway (GO:0034143)2.78939723
138protein palmitoylation (GO:0018345)2.78306915
139positive regulation of sterol transport (GO:0032373)2.78233010
140positive regulation of cholesterol transport (GO:0032376)2.78233010
141iron coordination entity transport (GO:1901678)2.76648307
142cholesterol efflux (GO:0033344)2.75638780
143dendritic cell differentiation (GO:0097028)2.75631984
144detection of external biotic stimulus (GO:0098581)2.75414585
145preassembly of GPI anchor in ER membrane (GO:0016254)2.75308980
146negative regulation of organelle assembly (GO:1902116)2.74575086
147keratan sulfate catabolic process (GO:0042340)2.74567851
148regulation of mast cell activation (GO:0033003)2.74075724
149hydrogen peroxide biosynthetic process (GO:0050665)2.73850208
150establishment of spindle localization (GO:0051293)2.73585549
151NIK/NF-kappaB signaling (GO:0038061)2.73405160
152regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.73377792
153regulation of monocyte chemotaxis (GO:0090025)2.73074949
154detection of other organism (GO:0098543)2.73009729
155adult walking behavior (GO:0007628)2.72383159
156cerebellar granule cell differentiation (GO:0021707)2.71694813
157fat-soluble vitamin biosynthetic process (GO:0042362)2.71217026
158regulation of membrane protein ectodomain proteolysis (GO:0051043)2.70732639
159regulation of interleukin-5 production (GO:0032674)2.70520488
160negative regulation of cytokine production involved in immune response (GO:0002719)2.69730769
161positive regulation by organism of defense response of other organism involved in symbiotic interact2.69718273
162modulation by symbiont of host immune response (GO:0052553)2.69718273
163positive regulation by symbiont of host defense response (GO:0052509)2.69718273
164modulation by symbiont of host defense response (GO:0052031)2.69718273
165modulation by organism of immune response of other organism involved in symbiotic interaction (GO:002.69718273
166modulation by organism of defense response of other organism involved in symbiotic interaction (GO:02.69718273
167negative regulation of inclusion body assembly (GO:0090084)2.67797477
168myeloid cell activation involved in immune response (GO:0002275)2.67588493
169negative regulation of lipid storage (GO:0010888)2.67497418
170presynaptic membrane organization (GO:0097090)2.67466508
171regulation of podosome assembly (GO:0071801)2.66563145
172negative regulation of peptidyl-threonine phosphorylation (GO:0010801)2.65573045
173neuroblast proliferation (GO:0007405)2.65013975
174glial cell development (GO:0021782)2.63070213
175peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)2.61830456
176regulation of interferon-alpha production (GO:0032647)2.60760743
177amyloid precursor protein catabolic process (GO:0042987)2.59603864
178detection of temperature stimulus (GO:0016048)2.59330774
179synaptonemal complex organization (GO:0070193)2.58994424
180protein targeting to lysosome (GO:0006622)2.58822840
181establishment of protein localization to vacuole (GO:0072666)2.58822840
182protein targeting to vacuole (GO:0006623)2.58822840
183regulation of regulated secretory pathway (GO:1903305)2.58318339
184Leydig cell differentiation (GO:0033327)2.57307841
185positive regulation of type 2 immune response (GO:0002830)2.57031530
186regulation of antigen processing and presentation (GO:0002577)2.56867147
187positive regulation of heat generation (GO:0031652)2.55750951
188vitamin D metabolic process (GO:0042359)2.55650734
189cilium or flagellum-dependent cell motility (GO:0001539)2.54423883
190establishment of spindle orientation (GO:0051294)2.54268601
191transferrin transport (GO:0033572)2.53671256
192negative regulation of interleukin-1 beta production (GO:0032691)2.53242558
193protein localization to vacuole (GO:0072665)2.50377003
194protein localization to lysosome (GO:0061462)2.50377003
195sex differentiation (GO:0007548)2.48609181
196neurotransmitter uptake (GO:0001504)2.47476825
197cerebral cortex radially oriented cell migration (GO:0021799)2.46409188
198isoprenoid biosynthetic process (GO:0008299)2.45464515
199central nervous system myelination (GO:0022010)11.2945979
200axon ensheathment in central nervous system (GO:0032291)11.2945979

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_21731497_ChIP-ChIP_J774_Mouse5.10144937
2IRF8_22096565_ChIP-ChIP_GC-B_Human4.72281335
3KLF2_18264089_ChIP-ChIP_MESCs_Mouse4.65057050
4KLF5_18264089_ChIP-ChIP_MESCs_Mouse4.65057050
5KLF4_18264089_ChIP-ChIP_MESCs_Mouse4.65057050
6NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human4.11961431
7IRF8_27001747_Chip-Seq_BMDM_Mouse3.80319703
8RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.48997380
9SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.43917753
10EZH2_22144423_ChIP-Seq_EOC_Human3.20441331
11Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse3.02155952
12NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.96807322
13RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.59878524
14ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.51971924
15VDR_24787735_ChIP-Seq_THP-1_Human2.45850415
16SMAD3_22036565_ChIP-Seq_ESCs_Mouse2.39037801
17MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.27976445
18THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.26276563
19MYB_21317192_ChIP-Seq_ERMYB_Mouse2.22799353
20IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.22501666
21SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse2.12135451
22SPI1_23127762_ChIP-Seq_K562_Human2.09172460
23VDR_24763502_ChIP-Seq_THP-1_Human2.01788785
24STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse2.01080925
25LXR_22292898_ChIP-Seq_THP-1_Human1.99671514
26IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.91371063
27NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.89276676
28NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.86031016
29SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.85648326
30RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.84971122
31STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.84159094
32BRD4_27068464_Chip-Seq_AML-cells_Mouse1.83014201
33PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.82966103
34ERG_21242973_ChIP-ChIP_JURKAT_Human1.81807929
35STAT4_19710469_ChIP-ChIP_TH1__Mouse1.81156254
36SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.78619548
37STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.74731216
38MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.74141072
39VDR_21846776_ChIP-Seq_THP-1_Human1.72975617
40PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.65357126
41KDM2B_26808549_Chip-Seq_SUP-B15_Human1.63082218
42LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.57450914
43CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.54804847
44SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.52918464
45E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.52237088
46RING1B_27294783_Chip-Seq_NPCs_Mouse1.51870532
47SCL_19346495_ChIP-Seq_HPC-7_Human1.48662472
48SPI1_23547873_ChIP-Seq_NB4_Human1.48223233
49NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.46925570
50FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.45203750
51SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.44338361
52ESR2_21235772_ChIP-Seq_MCF-7_Human1.44184972
53AR_21572438_ChIP-Seq_LNCaP_Human1.42372054
54CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.41782572
55TCF3_18692474_ChIP-Seq_MESCs_Mouse1.41203705
56GATA1_19941827_ChIP-Seq_MEL_Mouse1.39472938
57MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.39138946
58LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.38237017
59POU5F1_16518401_ChIP-PET_MESCs_Mouse1.38131416
60SOX9_26525672_Chip-Seq_Limbbuds_Mouse1.38085420
61MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.37999911
62TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.37446130
63VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.37128038
64TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.36832223
65SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.36551376
66SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.35772811
67RNF2_27304074_Chip-Seq_ESCs_Mouse1.35611976
68REST_21632747_ChIP-Seq_MESCs_Mouse1.34894065
69CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.34838871
70NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.33606437
71RUNX1_22412390_ChIP-Seq_EML_Mouse1.32130866
72RARB_27405468_Chip-Seq_BRAIN_Mouse1.31726024
73PU_27001747_Chip-Seq_BMDM_Mouse1.30667393
74SUZ12_27294783_Chip-Seq_ESCs_Mouse1.29021976
75SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.28857903
76PRDM14_21183938_ChIP-Seq_MESCs_Mouse1.27455211
77NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.26778638
78RARG_19884340_ChIP-ChIP_MEFs_Mouse1.26667234
79ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.25719280
80CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.25159537
81EZH2_27294783_Chip-Seq_ESCs_Mouse1.24485930
82MTF2_20144788_ChIP-Seq_MESCs_Mouse1.24295694
83* PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.23335267
84KDM2B_26808549_Chip-Seq_K562_Human1.23052831
85PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.22596471
86SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.22360051
87GATA1_26923725_Chip-Seq_HPCs_Mouse1.22090798
88EOMES_21245162_ChIP-Seq_HESCs_Human1.21469492
89NANOG_18692474_ChIP-Seq_MESCs_Mouse1.20777131
90OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.19465080
91PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.19299166
92ELK4_26923725_Chip-Seq_MESODERM_Mouse1.19225149
93GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.19187513
94IKZF1_21737484_ChIP-ChIP_HCT116_Human1.18545897
95RXR_22158963_ChIP-Seq_LIVER_Mouse1.18506977
96CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.18256495
97GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.16970040
98RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.16932642
99ELK3_25401928_ChIP-Seq_HUVEC_Human1.16485560
100RNF2_18974828_ChIP-Seq_MESCs_Mouse1.16285672
101EZH2_18974828_ChIP-Seq_MESCs_Mouse1.16285672
102ZFP281_27345836_Chip-Seq_ESCs_Mouse1.16068623
103RNF2_27304074_Chip-Seq_NSC_Mouse1.15908408
104FOXO3_23340844_ChIP-Seq_DLD1_Human1.15858037
105GBX2_23144817_ChIP-Seq_PC3_Human1.15596737
106SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.14748777
107GATA1_19941826_ChIP-Seq_K562_Human1.14093239
108TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.14017127
109TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.12126167
110LXR_22158963_ChIP-Seq_LIVER_Mouse1.12045103
111GATA2_21666600_ChIP-Seq_HMVEC_Human1.11926043
112* STAT1_20625510_ChIP-Seq_HELA_Human1.10597591
113VDR_22108803_ChIP-Seq_LS180_Human1.10471670
114WT1_25993318_ChIP-Seq_PODOCYTE_Human1.09645594
115KDM2B_26808549_Chip-Seq_DND41_Human1.09359449
116TFEB_21752829_ChIP-Seq_HELA_Human1.09063288
117PCGF2_27294783_Chip-Seq_NPCs_Mouse1.09013802
118* TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.08617299
119* POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.08617299
120* BCOR_27268052_Chip-Seq_Bcells_Human1.07666073
121SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.07234023
122PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.07231396
123* TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.06819895
124SMAD3_21741376_ChIP-Seq_EPCs_Human1.06497210
125EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.06241318
126DROSHA_22980978_ChIP-Seq_HELA_Human1.05552848
127PPARA_22158963_ChIP-Seq_LIVER_Mouse1.05547459
128BCL6_27268052_Chip-Seq_Bcells_Human1.04260329
129TCF7_22412390_ChIP-Seq_EML_Mouse1.03878859
130EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.03818982
131GATA1_22025678_ChIP-Seq_K562_Human1.03330733
132RUNX_20019798_ChIP-Seq_JUKART_Human1.02811032
133CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.01941402
134ELF1_20517297_ChIP-Seq_JURKAT_Human1.01905695
135NANOG_18692474_ChIP-Seq_MEFs_Mouse1.01667317
136VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.01160456
137TET1_21490601_ChIP-Seq_MESCs_Mouse1.00320927
138STAT3_18555785_ChIP-Seq_MESCs_Mouse0.99747743
139POU5F1_16153702_ChIP-ChIP_HESCs_Human0.99390629
140TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.98360913
141* PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.98031965
142REST_18959480_ChIP-ChIP_MESCs_Mouse0.97707652
143CBX2_27304074_Chip-Seq_ESCs_Mouse0.97324358
144RING1B_27294783_Chip-Seq_ESCs_Mouse0.96319671
145RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.96166733
146SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.95770560
147EZH2_27304074_Chip-Seq_ESCs_Mouse0.95346444
148KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.95128335
149EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.94543275
150NFIB_24661679_ChIP-Seq_LUNG_Mouse0.94492392
151POU5F1_18347094_ChIP-ChIP_MESCs_Mouse0.94448182
152STAT3_23295773_ChIP-Seq_U87_Human0.93863033
153EGR1_19374776_ChIP-ChIP_THP-1_Human0.93647328
154CTBP1_25329375_ChIP-Seq_LNCAP_Human0.93626123
155* MAF_26560356_Chip-Seq_TH1_Human0.93569867
156TRIM28_21343339_ChIP-Seq_HEK293_Human0.93250777
157SRY_22984422_ChIP-ChIP_TESTIS_Rat0.93194363
158STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.92928890
159BP1_19119308_ChIP-ChIP_Hs578T_Human0.92516887
160DNAJC2_21179169_ChIP-ChIP_NT2_Human0.91496201
161FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse0.91453044
162TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.89704297
163MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.88563266
164CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.88562318
165ZFP281_18757296_ChIP-ChIP_E14_Mouse0.88310118
166MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.87257921
167EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.85054891
168JARID2_20075857_ChIP-Seq_MESCs_Mouse0.84607331
169GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.84138596
170* CTCF_20526341_ChIP-Seq_ESCs_Human0.84017115
171SOX2_18692474_ChIP-Seq_MESCs_Mouse0.83747940
172CTCF_27219007_Chip-Seq_Bcells_Human0.82712877
173* MITF_21258399_ChIP-Seq_MELANOMA_Human0.82558919
174SOX2_27498859_Chip-Seq_STOMACH_Mouse0.82059554
175SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.81017375
176CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.80949171
177OCT4_19829295_ChIP-Seq_ESCs_Human0.80829417
178SMC4_20622854_ChIP-Seq_HELA_Human0.80424718
179TCF3_18692474_ChIP-Seq_MEFs_Mouse0.79820581
180SA1_27219007_Chip-Seq_Bcells_Human0.79780735
181TBL1_22424771_ChIP-Seq_293T_Human0.79693240
182PU.1_20513432_ChIP-Seq_Bcells_Mouse0.79231897
183CTBP2_25329375_ChIP-Seq_LNCAP_Human0.78963390
184* GATA1_22383799_ChIP-Seq_G1ME_Mouse0.78659250
185SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.77676119
186OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.77539881
187GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.77360762
188KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.77163213
189SMAD4_21741376_ChIP-Seq_EPCs_Human0.76869359
190TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.76620317
191LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.76345778
192WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.76140860
193EED_16625203_ChIP-ChIP_MESCs_Mouse0.75454283

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005058_abnormal_lysosome_morphology5.29787481
2MP0005410_abnormal_fertilization4.56709378
3MP0003950_abnormal_plasma_membrane4.20180942
4MP0000920_abnormal_myelination4.16903295
5MP0003303_peritoneal_inflammation4.01304765
6MP0005171_absent_coat_pigmentation3.79845991
7MP0003172_abnormal_lysosome_physiology3.77695543
8MP0002139_abnormal_hepatobiliary_system3.47099012
9MP0001485_abnormal_pinna_reflex2.94577087
10MP0002148_abnormal_hypersensitivity_rea2.90783255
11MP0003136_yellow_coat_color2.81342709
12MP0005423_abnormal_somatic_nervous2.77148411
13MP0003191_abnormal_cellular_cholesterol2.75758410
14MP0003436_decreased_susceptibility_to2.63524067
15MP0004510_myositis2.51966219
16MP0003690_abnormal_glial_cell2.51829745
17MP0003724_increased_susceptibility_to2.51659743
18MP0002419_abnormal_innate_immunity2.50142672
19MP0004043_abnormal_pH_regulation2.46290018
20MP0004885_abnormal_endolymph2.42631741
21MP0003075_altered_response_to2.39623554
22MP0001835_abnormal_antigen_presentation2.38442896
23MP0000343_altered_response_to2.29409704
24MP0003329_amyloid_beta_deposits2.28543104
25MP0001486_abnormal_startle_reflex2.23410700
26MP0005671_abnormal_response_to2.22906625
27MP0009785_altered_susceptibility_to2.19586297
28MP0003880_abnormal_central_pattern2.18093921
29MP0004134_abnormal_chest_morphology2.14211342
30MP0004742_abnormal_vestibular_system2.14201027
31MP0004142_abnormal_muscle_tone2.11625856
32MP0003634_abnormal_glial_cell2.11154845
33MP0004270_analgesia2.09203594
34MP0010678_abnormal_skin_adnexa2.07913816
35MP0005000_abnormal_immune_tolerance2.06932362
36MP0005025_abnormal_response_to2.06730729
37MP0003698_abnormal_male_reproductive2.06172354
38MP0002653_abnormal_ependyma_morphology2.04920008
39MP0001790_abnormal_immune_system2.01977300
40MP0005387_immune_system_phenotype2.01977300
41MP0005310_abnormal_salivary_gland1.90414154
42MP0005623_abnormal_meninges_morphology1.89252054
43MP0002272_abnormal_nervous_system1.86658633
44MP0005451_abnormal_body_composition1.86368397
45MP0002998_abnormal_bone_remodeling1.84442829
46MP0002452_abnormal_antigen_presenting1.82590645
47MP0005167_abnormal_blood-brain_barrier1.81004541
48MP0005377_hearing/vestibular/ear_phenot1.80447197
49MP0003878_abnormal_ear_physiology1.80447197
50MP0003300_gastrointestinal_ulcer1.78489447
51MP0003890_abnormal_embryonic-extraembry1.76685566
52MP0008877_abnormal_DNA_methylation1.76097167
53MP0009764_decreased_sensitivity_to1.75974327
54MP0001533_abnormal_skeleton_physiology1.75954497
55MP0001929_abnormal_gametogenesis1.72059309
56MP0000778_abnormal_nervous_system1.70910483
57MP0000383_abnormal_hair_follicle1.70246282
58MP0002723_abnormal_immune_serum1.69505532
59MP0001853_heart_inflammation1.67583073
60MP0005365_abnormal_bile_salt1.66834984
61MP0001529_abnormal_vocalization1.65362762
62MP0003632_abnormal_nervous_system1.64441290
63MP0000685_abnormal_immune_system1.60328287
64MP0002229_neurodegeneration1.57860500
65MP0000955_abnormal_spinal_cord1.55674763
66MP0001346_abnormal_lacrimal_gland1.50954919
67MP0001800_abnormal_humoral_immune1.50876992
68MP0008004_abnormal_stomach_pH1.49505735
69MP0001845_abnormal_inflammatory_respons1.45461018
70MP0001963_abnormal_hearing_physiology1.44547642
71MP0004381_abnormal_hair_follicle1.42829252
72MP0002064_seizures1.41028014
73MP0000462_abnormal_digestive_system1.40957164
74MP0002254_reproductive_system_inflammat1.39537916
75MP0008469_abnormal_protein_level1.38286989
76MP0002420_abnormal_adaptive_immunity1.38162770
77MP0001819_abnormal_immune_cell1.37393438
78MP0000762_abnormal_tongue_morphology1.34944173
79MP0003631_nervous_system_phenotype1.34911741
80MP0005464_abnormal_platelet_physiology1.33325411
81MP0002090_abnormal_vision1.32943002
82MP0002210_abnormal_sex_determination1.31904939
83MP0002405_respiratory_system_inflammati1.31832453
84MP0003633_abnormal_nervous_system1.31430231
85MP0005075_abnormal_melanosome_morpholog1.30678151
86MP0004947_skin_inflammation1.30018596
87MP0003448_altered_tumor_morphology1.28330390
88MP0005166_decreased_susceptibility_to1.28160284
89MP0006054_spinal_hemorrhage1.25115156
90MP0001293_anophthalmia1.23461313
91MP0009278_abnormal_bone_marrow1.22907848
92MP0001145_abnormal_male_reproductive1.22261981
93MP0009046_muscle_twitch1.20519113
94MP0004858_abnormal_nervous_system1.20479701
95MP0000467_abnormal_esophagus_morphology1.19590397
96MP0001905_abnormal_dopamine_level1.18399008
97MP0003938_abnormal_ear_development1.18242248
98MP0004133_heterotaxia1.17967265
99MP0001545_abnormal_hematopoietic_system1.17270794
100MP0005397_hematopoietic_system_phenotyp1.17270794
101MP0000604_amyloidosis1.16759501
102MP0002161_abnormal_fertility/fecundity1.14000326
103MP0000026_abnormal_inner_ear1.13914523
104MP0008569_lethality_at_weaning1.11560007
105MP0003656_abnormal_erythrocyte_physiolo1.10781147
106MP0002882_abnormal_neuron_morphology1.09914552
107MP0003879_abnormal_hair_cell1.09417537
108MP0010155_abnormal_intestine_physiology1.07319642
109MP0005257_abnormal_intraocular_pressure1.05523061
110MP0002734_abnormal_mechanical_nocicepti1.05180075
111MP0002752_abnormal_somatic_nervous1.04451094
112MP0002572_abnormal_emotion/affect_behav1.04024456
113MP0003806_abnormal_nucleotide_metabolis1.04015145
114MP0004859_abnormal_synaptic_plasticity1.03377079
115MP0009333_abnormal_splenocyte_physiolog1.03171417
116MP0000647_abnormal_sebaceous_gland1.01837215
117MP0000858_altered_metastatic_potential1.01800868
118MP0008260_abnormal_autophagy1.00116565
119MP0000639_abnormal_adrenal_gland0.99195800
120MP0003183_abnormal_peptide_metabolism0.98097333
121MP0001970_abnormal_pain_threshold0.97182346
122MP0002066_abnormal_motor_capabilities/c0.94630528
123MP0004019_abnormal_vitamin_homeostasis0.90704646
124MP0000747_muscle_weakness0.90447620
125MP0000653_abnormal_sex_gland0.90034327
126MP0003195_calcinosis0.89966709
127MP0010386_abnormal_urinary_bladder0.88492290
128MP0001501_abnormal_sleep_pattern0.88425462
129MP0001440_abnormal_grooming_behavior0.88060708
130MP0002249_abnormal_larynx_morphology0.86728406
131MP0000716_abnormal_immune_system0.86685463
132MP0004145_abnormal_muscle_electrophysio0.86421185
133MP0005647_abnormal_sex_gland0.84688037
134MP0003635_abnormal_synaptic_transmissio0.83701682
135MP0005165_increased_susceptibility_to0.83194641
136MP0002092_abnormal_eye_morphology0.82538667
137MP0005195_abnormal_posterior_eye0.82288340
138MP0005645_abnormal_hypothalamus_physiol0.81928880
139MP0003861_abnormal_nervous_system0.81260428
140MP0002932_abnormal_joint_morphology0.80765481
141MP0002138_abnormal_hepatobiliary_system0.80703339
142MP0002067_abnormal_sensory_capabilities0.80302324
143MP0009745_abnormal_behavioral_response0.79458618
144MP0003828_pulmonary_edema0.78470784
145MP0002063_abnormal_learning/memory/cond0.78415799
146MP0009840_abnormal_foam_cell0.77543960
147MP0001542_abnormal_bone_strength0.75532110
148MP0005164_abnormal_response_to0.74920464
149MP0004264_abnormal_extraembryonic_tissu0.74707705
150MP0001986_abnormal_taste_sensitivity0.74532555
151MP0000631_abnormal_neuroendocrine_gland0.73797975
152MP0008874_decreased_physiological_sensi0.73406110
153MP0002152_abnormal_brain_morphology0.73033601
154MP0002332_abnormal_exercise_endurance0.72934848
155MP0001340_abnormal_eyelid_morphology0.71938841
156MP0010030_abnormal_orbit_morphology0.71506133
157MP0002938_white_spotting0.70565546
158MP0003453_abnormal_keratinocyte_physiol0.69697098
159MP0004883_abnormal_blood_vessel0.68608580
160MP0002269_muscular_atrophy0.68037478
161MP0003937_abnormal_limbs/digits/tail_de0.67463735
162MP0000566_synostosis0.67155709
163MP0000579_abnormal_nail_morphology0.67061971
164MP0002114_abnormal_axial_skeleton0.67033185
165MP0009763_increased_sensitivity_to0.66861591
166MP0003795_abnormal_bone_structure0.66188534
167MP0005584_abnormal_enzyme/coenzyme_acti0.66119084
168MP0006082_CNS_inflammation0.65196779
169MP0005390_skeleton_phenotype0.65166084
170MP0009250_abnormal_appendicular_skeleto0.63785295
171MP0001299_abnormal_eye_distance/0.63062824
172MP0000371_diluted_coat_color0.62726883
173MP0000609_abnormal_liver_physiology0.61503133
174MP0000689_abnormal_spleen_morphology0.61496723
175MP0002118_abnormal_lipid_homeostasis0.61117400
176MP0001663_abnormal_digestive_system0.60941093
177MP0000249_abnormal_blood_vessel0.60890376
178MP0002429_abnormal_blood_cell0.59372787
179MP0005535_abnormal_body_temperature0.57316233
180MP0010307_abnormal_tumor_latency0.56999325

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of glycolipid metabolism (HP:0010969)9.32388730
2Abnormality of liposaccharide metabolism (HP:0010968)9.32388730
3Abnormality of glycosphingolipid metabolism (HP:0004343)9.32388730
4Increased cerebral lipofuscin (HP:0011813)6.69900550
5Neurofibrillary tangles (HP:0002185)6.05796746
6Vacuolated lymphocytes (HP:0001922)5.60161104
7Increased neuronal autofluorescent lipopigment (HP:0002074)5.43213147
8Disinhibition (HP:0000734)5.28970083
9Systemic lupus erythematosus (HP:0002725)5.22844066
10Dysostosis multiplex (HP:0000943)5.08767872
11Loss of speech (HP:0002371)4.82106416
12Mutism (HP:0002300)4.70626856
13Cerebral inclusion bodies (HP:0100314)4.66164122
14Abnormality of macrophages (HP:0004311)4.41616971
15Cerebral hypomyelination (HP:0006808)4.32230676
16Degeneration of the lateral corticospinal tracts (HP:0002314)4.13348346
17Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)4.13348346
18Abnormality of polysaccharide metabolism (HP:0011012)4.06751102
19Abnormality of glycosaminoglycan metabolism (HP:0004371)4.06751102
20Abnormality of mucopolysaccharide metabolism (HP:0011020)4.06751102
21Onion bulb formation (HP:0003383)4.04341089
22Urinary glycosaminoglycan excretion (HP:0003541)3.87653566
23Mucopolysacchariduria (HP:0008155)3.87653566
24Supranuclear gaze palsy (HP:0000605)3.81073129
25Alacrima (HP:0000522)3.76429800
26Abnormal auditory evoked potentials (HP:0006958)3.72881038
27Sensory axonal neuropathy (HP:0003390)3.61295859
28Apathy (HP:0000741)3.61279827
29Glomerulonephritis (HP:0000099)3.57475696
30Autoimmune thrombocytopenia (HP:0001973)3.56272721
31Recurrent bacterial skin infections (HP:0005406)3.55767151
32Difficulty running (HP:0009046)3.54437442
33Parakeratosis (HP:0001036)3.50834874
34Abnormality of the corticospinal tract (HP:0002492)3.48808940
35Recurrent abscess formation (HP:0002722)3.48165621
36Nuclear cataract (HP:0100018)3.47486137
37Peripheral hypomyelination (HP:0007182)3.45975539
38Diminished motivation (HP:0000745)3.45726221
39Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.44936379
40Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)3.44645637
41Spastic tetraparesis (HP:0001285)3.35534659
42Axonal loss (HP:0003447)3.31498707
43Abnormality of the salivary glands (HP:0010286)3.28337302
44Agnosia (HP:0010524)3.24704552
45Eczematoid dermatitis (HP:0000976)3.24609346
46Inappropriate behavior (HP:0000719)3.21149268
47Upper motor neuron abnormality (HP:0002127)3.19224632
48Recurrent gram-negative bacterial infections (HP:0005420)3.16175371
49Complement deficiency (HP:0004431)3.00851940
50Purpura (HP:0000979)2.97252065
51Retinal atrophy (HP:0001105)2.96563117
52Abnormality of the vasculature of the conjunctiva (HP:0008054)2.95855116
53Partial duplication of thumb phalanx (HP:0009944)2.95167276
54Myocardial infarction (HP:0001658)2.91532776
55Esophageal atresia (HP:0002032)2.90610113
56Dynein arm defect of respiratory motile cilia (HP:0012255)2.79692394
57Absent/shortened dynein arms (HP:0200106)2.79692394
58Hypochromic microcytic anemia (HP:0004840)2.78471126
59Mediastinal lymphadenopathy (HP:0100721)2.75426478
60Decreased lacrimation (HP:0000633)2.75359503
61Segmental peripheral demyelination/remyelination (HP:0003481)2.73206707
62CNS hypomyelination (HP:0003429)2.73164155
63Dementia (HP:0000726)2.71708318
64Morphological abnormality of the inner ear (HP:0011390)2.71395903
65Personality changes (HP:0000751)2.67044711
66Dysmetria (HP:0001310)2.66056692
67Anomalous pulmonary venous return (HP:0010772)2.65985699
68Progressive neurologic deterioration (HP:0002344)2.58543255
69Abnormality of the periventricular white matter (HP:0002518)2.54235838
70Coronal craniosynostosis (HP:0004440)2.50274528
71Vaginal atresia (HP:0000148)2.49069133
72Partial duplication of the phalanx of hand (HP:0009999)2.46785577
73Retrobulbar optic neuritis (HP:0100654)2.43568531
74Optic neuritis (HP:0100653)2.43568531
75Orchitis (HP:0100796)2.43007494
76Clumsiness (HP:0002312)2.42692662
77Anteriorly placed anus (HP:0001545)2.39229970
78Aplasia involving bones of the extremities (HP:0009825)2.36396125
79Aplasia involving bones of the upper limbs (HP:0009823)2.36396125
80Aplasia of the phalanges of the hand (HP:0009802)2.36396125
81Intention tremor (HP:0002080)2.35140248
82Neuronal loss in central nervous system (HP:0002529)2.33410699
83Gastrointestinal atresia (HP:0002589)2.32759711
84Genital tract atresia (HP:0001827)2.32164149
85Myokymia (HP:0002411)2.31711369
86Peripheral demyelination (HP:0011096)2.31480892
87Global brain atrophy (HP:0002283)2.30834738
88Abnormality of the lower motor neuron (HP:0002366)2.30208746
89Thickened helices (HP:0000391)2.29091116
90Abnormality of complement system (HP:0005339)2.29027216
91Hepatosplenomegaly (HP:0001433)2.27828252
92Bilateral microphthalmos (HP:0007633)2.26998343
93Septo-optic dysplasia (HP:0100842)2.26387344
94Distal sensory impairment (HP:0002936)2.26291238
95Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.25547321
96Difficulty walking (HP:0002355)2.25121052
97Absent septum pellucidum (HP:0001331)2.24951558
98Metaphyseal irregularity (HP:0003025)2.23894378
99Increased serum ferritin (HP:0003281)2.22223879
100Myositis (HP:0100614)2.22080957
101Asymmetric septal hypertrophy (HP:0001670)2.21039782
102Pancreatic islet-cell hyperplasia (HP:0004510)2.20924876
103Slow saccadic eye movements (HP:0000514)2.20071819
104Amyloidosis (HP:0011034)2.18691079
105Abnormality of the pulmonary veins (HP:0011718)2.17210230
106Decreased motor nerve conduction velocity (HP:0003431)2.16773816
107Chronic obstructive pulmonary disease (HP:0006510)2.16763936
108Obstructive lung disease (HP:0006536)2.16763936
109Synostosis involving the elbow (HP:0003938)2.15424013
110Humeroradial synostosis (HP:0003041)2.15424013
111Pathologic fracture (HP:0002756)2.15244102
112Xanthomatosis (HP:0000991)2.14862984
113Prolonged neonatal jaundice (HP:0006579)2.14843900
114Ankle clonus (HP:0011448)2.13101583
115Neoplasm of the oral cavity (HP:0100649)2.12658467
116Gait imbalance (HP:0002141)2.12018857
117Diaphragmatic weakness (HP:0009113)2.09797259
118Memory impairment (HP:0002354)2.08498672
119Gowers sign (HP:0003391)2.07963383
120Stomatitis (HP:0010280)2.06598732
121Turricephaly (HP:0000262)2.03318932
122Termporal pattern (HP:0011008)2.03229084
123Insidious onset (HP:0003587)2.03229084
124Bell-shaped thorax (HP:0001591)2.01946044
125Basal ganglia calcification (HP:0002135)2.00508590
126Medial flaring of the eyebrow (HP:0010747)1.99180233
127Specific learning disability (HP:0001328)1.97157381
128Astrocytoma (HP:0009592)1.96498136
129Abnormality of the astrocytes (HP:0100707)1.96498136
130Increased CSF protein (HP:0002922)1.95780693
131Pulmonary infiltrates (HP:0002113)1.95493185
132Rib fusion (HP:0000902)1.94364648
133Cardiomegaly (HP:0001640)1.94092033
134Large for gestational age (HP:0001520)1.93798494
135Thoracic kyphosis (HP:0002942)1.93692227
136Asplenia (HP:0001746)1.92158659
137Rectal fistula (HP:0100590)1.92109963
138Rectovaginal fistula (HP:0000143)1.92109963
139Gingivitis (HP:0000230)1.91667917
140Hematochezia (HP:0002573)1.91538790
141Decreased number of peripheral myelinated nerve fibers (HP:0003380)1.90915225
142Urinary incontinence (HP:0000020)1.90328767
143Spastic gait (HP:0002064)1.90000474
144Lower limb muscle weakness (HP:0007340)1.89905140
145Congenital primary aphakia (HP:0007707)1.89855740
146Aplasia/Hypoplasia of the spleen (HP:0010451)1.88983154
147Duplication of thumb phalanx (HP:0009942)1.87591837
148Foot dorsiflexor weakness (HP:0009027)1.85892797
149Recurrent skin infections (HP:0001581)1.85826076
150Spontaneous hematomas (HP:0007420)1.85774882
151Polyneuropathy (HP:0001271)1.85505246
152Hyporeflexia of lower limbs (HP:0002600)1.85374954
153Abnormality of the septum pellucidum (HP:0007375)1.85138548
154Broad alveolar ridges (HP:0000187)1.85107874
155Impaired proprioception (HP:0010831)1.83815087
156Hammertoe (HP:0001765)1.83691785
157Abnormal respiratory motile cilium physiology (HP:0012261)1.83272485
158Nephritis (HP:0000123)1.83242488
159Multiple enchondromatosis (HP:0005701)1.81903674
160White forelock (HP:0002211)1.80277336
161Urinary urgency (HP:0000012)1.80188325
162Bone pain (HP:0002653)1.79294111
163Preaxial foot polydactyly (HP:0001841)1.79051411
164Pheochromocytoma (HP:0002666)1.77815832
165Premature skin wrinkling (HP:0100678)1.76782334
166Abnormality of the foot musculature (HP:0001436)1.76421388
167Conjunctival telangiectasia (HP:0000524)1.76396091
168Congenital sensorineural hearing impairment (HP:0008527)1.75535988
169Progressive visual loss (HP:0000529)1.75326090
170Abnormal respiratory epithelium morphology (HP:0012253)1.74041350
171Abnormal respiratory motile cilium morphology (HP:0005938)1.74041350
172Abnormality of the lumbar spine (HP:0100712)1.73423770
173Nephrogenic diabetes insipidus (HP:0009806)1.73152813
174Abnormality of iron homeostasis (HP:0011031)1.72974258
175Nephroblastoma (Wilms tumor) (HP:0002667)1.72827865
176Abnormality of binocular vision (HP:0011514)1.72716951
177Diplopia (HP:0000651)1.72716951
178Ectopic anus (HP:0004397)1.70367707
179Petechiae (HP:0000967)1.68719244
180J-shaped sella turcica (HP:0002680)1.67897971
181Keratoconjunctivitis sicca (HP:0001097)1.62607939
182Beaking of vertebral bodies (HP:0004568)1.61022189
183Protuberant abdomen (HP:0001538)1.60757659
184Interstitial pulmonary disease (HP:0006530)1.60511190
185Pulmonary embolism (HP:0002204)1.54116839
186Hemoptysis (HP:0002105)1.53396738
187Nausea (HP:0002018)1.51543377
188Restrictive lung disease (HP:0002091)1.50958071
189Skin nodule (HP:0200036)1.49585742
190Agitation (HP:0000713)1.49224671
191Vertebral compression fractures (HP:0002953)1.47781294
192Poor head control (HP:0002421)1.47548256

Predicted kinase interactions (KEA)

RankGene SetZ-score
1STK394.22231878
2IRAK33.90931629
3BLK3.44905094
4NME23.26648559
5EPHB13.07068465
6DDR23.00695855
7ICK2.94012712
8RIPK42.93246929
9MAPKAPK52.90805663
10OXSR12.82753272
11MAP3K142.57952395
12TYRO32.57464597
13TGFBR22.46854440
14LIMK12.39642044
15ACVR1B2.39431265
16PKN12.36104063
17MAP3K112.35794017
18TAOK22.33231144
19WNK12.31610761
20UHMK12.26237400
21TBK12.25946327
22RIPK12.22658452
23CDK122.19489720
24NTRK12.14818386
25MET1.93407598
26TESK21.83222751
27PDK21.82723826
28TYK21.81343293
29BCR1.80554148
30DAPK21.73806756
31FGFR21.73504638
32TAOK11.71222721
33ABL21.65680128
34MAP3K31.60919603
35CAMKK21.58853607
36MAP3K131.56479385
37AKT31.53774671
38CAMK2B1.53768260
39PNCK1.53466094
40CSK1.52404660
41PIM21.52029259
42IKBKB1.49117288
43MOS1.48643611
44CAMK1D1.45463233
45PDK31.44067241
46PDK41.44067241
47MARK21.37986787
48PRKD31.37859210
49ADRBK21.37419081
50MAP2K31.35378035
51MAPK151.34684253
52WNK41.30419950
53CSNK1G31.30058442
54ERN11.27693877
55CSNK1A1L1.26412638
56BMPR21.22903136
57MAP4K11.21391234
58IRAK41.19686987
59MST41.16583000
60DYRK21.15220052
61ROCK21.15046280
62IKBKE1.14447126
63MATK1.13595448
64CAMK2D1.13127369
65CAMK2G1.11771775
66ZAP701.11251674
67GRK51.11188964
68PBK1.10597291
69FGR1.08632232
70ARAF1.08609291
71CAMKK11.08565853
72CDK191.07509107
73NEK61.06415608
74CSNK1G11.05064716
75PRPF4B1.04462132
76MAP3K11.02923018
77SYK0.97930582
78PHKG20.97170160
79PHKG10.97170160
80CLK10.94212387
81CSNK1G20.93812765
82SGK4940.90871010
83SGK2230.90871010
84FES0.89479979
85NTRK20.88775460
86DYRK1B0.88625942
87TESK10.86961759
88IRAK20.86811229
89JAK30.85138974
90LYN0.84013442
91TXK0.82747895
92PRKD10.82356478
93GSK3A0.81378993
94JAK20.80023019
95MAP2K60.79706501
96MAP3K50.79671718
97SIK20.79116261
98PAK60.77822913
99GRK10.74893204
100BMX0.73949498
101CAMK2A0.73339196
102LATS20.72305844
103CHUK0.71952369
104PDPK10.71579510
105JAK10.71078617
106EPHA20.70934719
107CDK60.69959312
108TNK20.68940906
109MARK30.68829510
110TRPM70.67880177
111YES10.67603210
112MAPK100.67309740
113MAPK70.66381394
114PDK10.64804502
115CSNK1D0.64178913
116SIK10.63866577
117CSF1R0.62627202
118PDGFRA0.62273782
119CDK140.62115614
120MARK10.60917234
121MAP2K20.60237439
122CDK150.59085153
123CDK50.59069528
124PINK10.58962307
125PAK30.58644640
126CDC42BPA0.56666052
127HIPK20.55598330
128LCK0.55209047
129HCK0.52889754
130INSR0.52040619
131CDK180.50492671
132ALK0.50300855
133TTK0.49779733
134CDK11A0.48467501
135CSNK1E0.48034629
136PRKCE0.47634268
137CHEK20.47049711
138PRKG10.46870082
139EPHA40.46342868
140NTRK30.46070884
141RPS6KA50.45642420
142NEK90.45232117
143RPS6KA20.44722381
144GRK70.44418368
145PRKACB0.42581382
146KSR20.42491417
147TLK10.42488370
148CHEK10.41792959
149MAPK40.41589346
150CAMK1G0.41427412
151MTOR0.40617748
152MAPK120.39814223
153MAP3K20.39532335
154RPS6KC10.38683214
155RPS6KL10.38683214
156CSNK1A10.38579264
157MAP3K90.38507049
158PRKCZ0.37768457
159PAK10.37574560
160RPS6KA30.36707485
161PDGFRB0.36569392
162ABL10.35582435
163PRKG20.33983997
164RPS6KA60.33698236
165FYN0.33429984
166DAPK30.33051275
167PIM10.31892172
168SGK30.31023608
169KIT0.30956776
170CAMK10.30111939
171DAPK10.29855356
172BTK0.29416262
173CAMK40.28730134

Predicted pathways (KEGG)

RankGene SetZ-score
1Other glycan degradation_Homo sapiens_hsa005114.60107541
2Fatty acid elongation_Homo sapiens_hsa000624.42513629
3Vitamin B6 metabolism_Homo sapiens_hsa007504.15730274
4Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005634.13263905
5Terpenoid backbone biosynthesis_Homo sapiens_hsa009003.84635903
6Ether lipid metabolism_Homo sapiens_hsa005653.35360862
7Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010403.33162313
8Staphylococcus aureus infection_Homo sapiens_hsa051503.29899681
9Nitrogen metabolism_Homo sapiens_hsa009103.10008111
10Glycosaminoglycan degradation_Homo sapiens_hsa005313.09537012
11Taurine and hypotaurine metabolism_Homo sapiens_hsa004303.07097959
12Steroid biosynthesis_Homo sapiens_hsa001003.00031479
13Rheumatoid arthritis_Homo sapiens_hsa053232.81341579
14alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.67712844
15Linoleic acid metabolism_Homo sapiens_hsa005912.66876362
16Osteoclast differentiation_Homo sapiens_hsa043802.50372156
17Asthma_Homo sapiens_hsa053102.45026339
18Dorso-ventral axis formation_Homo sapiens_hsa043202.40524512
19Allograft rejection_Homo sapiens_hsa053302.27480620
20Leishmaniasis_Homo sapiens_hsa051402.25314106
21Toll-like receptor signaling pathway_Homo sapiens_hsa046202.11206458
22Tuberculosis_Homo sapiens_hsa051522.08549980
23Fatty acid biosynthesis_Homo sapiens_hsa000612.07963200
24Graft-versus-host disease_Homo sapiens_hsa053321.94299672
25Phagosome_Homo sapiens_hsa041451.94198019
26Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.91605568
27Histidine metabolism_Homo sapiens_hsa003401.90139045
28Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.89038777
29Autoimmune thyroid disease_Homo sapiens_hsa053201.88111702
30Pertussis_Homo sapiens_hsa051331.82632550
31Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.77737481
32Intestinal immune network for IgA production_Homo sapiens_hsa046721.76871712
33Folate biosynthesis_Homo sapiens_hsa007901.74700050
34Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.66347119
35Antigen processing and presentation_Homo sapiens_hsa046121.64973835
36NF-kappa B signaling pathway_Homo sapiens_hsa040641.59905091
37Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.59306725
38Type I diabetes mellitus_Homo sapiens_hsa049401.53827771
39Malaria_Homo sapiens_hsa051441.52902812
40Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.44267647
41Complement and coagulation cascades_Homo sapiens_hsa046101.39328375
42Salmonella infection_Homo sapiens_hsa051321.38310343
43Sphingolipid metabolism_Homo sapiens_hsa006001.38007789
44Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.35913838
45TNF signaling pathway_Homo sapiens_hsa046681.35473921
46Toxoplasmosis_Homo sapiens_hsa051451.33113809
47Axon guidance_Homo sapiens_hsa043601.32200843
48Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.32179380
49NOD-like receptor signaling pathway_Homo sapiens_hsa046211.31236818
50Legionellosis_Homo sapiens_hsa051341.30982527
51Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.28281301
52Primary bile acid biosynthesis_Homo sapiens_hsa001201.26583567
53Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.20777990
54Glycerophospholipid metabolism_Homo sapiens_hsa005641.19341108
55Arachidonic acid metabolism_Homo sapiens_hsa005901.17298598
56Tight junction_Homo sapiens_hsa045301.13816404
57RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.12759938
58Viral myocarditis_Homo sapiens_hsa054161.07465208
59GABAergic synapse_Homo sapiens_hsa047271.05478038
60Influenza A_Homo sapiens_hsa051641.03080710
61Arginine and proline metabolism_Homo sapiens_hsa003301.02616112
62B cell receptor signaling pathway_Homo sapiens_hsa046621.01411278
63Fatty acid metabolism_Homo sapiens_hsa012121.01245452
64Notch signaling pathway_Homo sapiens_hsa043301.00575795
65Sulfur metabolism_Homo sapiens_hsa009200.97842728
66Hematopoietic cell lineage_Homo sapiens_hsa046400.97153074
67Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.96894564
68Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.96243122
69PPAR signaling pathway_Homo sapiens_hsa033200.95480416
70Glutamatergic synapse_Homo sapiens_hsa047240.95382264
71Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.89340703
72African trypanosomiasis_Homo sapiens_hsa051430.88721996
73Hedgehog signaling pathway_Homo sapiens_hsa043400.87656358
74Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.85337852
75Chemokine signaling pathway_Homo sapiens_hsa040620.83696781
76Cocaine addiction_Homo sapiens_hsa050300.83646463
77Endocytosis_Homo sapiens_hsa041440.83350129
78Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.82105675
79Sphingolipid signaling pathway_Homo sapiens_hsa040710.81318330
80Renal cell carcinoma_Homo sapiens_hsa052110.78809667
81Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.78016207
82Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.76212118
83Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.75980955
84Phospholipase D signaling pathway_Homo sapiens_hsa040720.75228249
85Butanoate metabolism_Homo sapiens_hsa006500.74048496
86Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.73895530
87Choline metabolism in cancer_Homo sapiens_hsa052310.72281669
88Hippo signaling pathway_Homo sapiens_hsa043900.71983563
89Prion diseases_Homo sapiens_hsa050200.71560417
90Propanoate metabolism_Homo sapiens_hsa006400.68330073
91Long-term depression_Homo sapiens_hsa047300.67642149
92Basal cell carcinoma_Homo sapiens_hsa052170.67458256
93Apoptosis_Homo sapiens_hsa042100.67340665
94Adipocytokine signaling pathway_Homo sapiens_hsa049200.66774209
95Hepatitis C_Homo sapiens_hsa051600.63093429
96Amoebiasis_Homo sapiens_hsa051460.63038055
97Serotonergic synapse_Homo sapiens_hsa047260.62551288
98Ras signaling pathway_Homo sapiens_hsa040140.61825335
99Herpes simplex infection_Homo sapiens_hsa051680.61379353
100Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.61247781
101Vascular smooth muscle contraction_Homo sapiens_hsa042700.60786023
102Gastric acid secretion_Homo sapiens_hsa049710.58343715
103Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.58018354
104SNARE interactions in vesicular transport_Homo sapiens_hsa041300.57951468
105Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.55780032
106Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.55158011
107Shigellosis_Homo sapiens_hsa051310.55082301
108Pyruvate metabolism_Homo sapiens_hsa006200.54819809
109Sulfur relay system_Homo sapiens_hsa041220.53914348
110Mineral absorption_Homo sapiens_hsa049780.53325430
111ErbB signaling pathway_Homo sapiens_hsa040120.52210736
112VEGF signaling pathway_Homo sapiens_hsa043700.52171567
113Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.51227919
114Regulation of actin cytoskeleton_Homo sapiens_hsa048100.50605811
115Lysosome_Homo sapiens_hsa041420.48421196
116Type II diabetes mellitus_Homo sapiens_hsa049300.47393137
117Bladder cancer_Homo sapiens_hsa052190.47308766
118AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.46991663
119Jak-STAT signaling pathway_Homo sapiens_hsa046300.45242888
120Salivary secretion_Homo sapiens_hsa049700.43846594
121Measles_Homo sapiens_hsa051620.43786927
122Vitamin digestion and absorption_Homo sapiens_hsa049770.43695685
123Acute myeloid leukemia_Homo sapiens_hsa052210.42628297
124Wnt signaling pathway_Homo sapiens_hsa043100.42248262
125Morphine addiction_Homo sapiens_hsa050320.41934566
126Synaptic vesicle cycle_Homo sapiens_hsa047210.41394911
127Glutathione metabolism_Homo sapiens_hsa004800.41366536
128Galactose metabolism_Homo sapiens_hsa000520.41071485
129Ovarian steroidogenesis_Homo sapiens_hsa049130.40699752
130Glycerolipid metabolism_Homo sapiens_hsa005610.40136916
131Collecting duct acid secretion_Homo sapiens_hsa049660.40087827
132Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.39650702
133Neurotrophin signaling pathway_Homo sapiens_hsa047220.39022745
134Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.37670737
135Hepatitis B_Homo sapiens_hsa051610.37284673
136T cell receptor signaling pathway_Homo sapiens_hsa046600.36688343
137Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.36434642
138Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.36373056
139Prolactin signaling pathway_Homo sapiens_hsa049170.35372001
140Gap junction_Homo sapiens_hsa045400.33868752
141Amphetamine addiction_Homo sapiens_hsa050310.33396630
142HIF-1 signaling pathway_Homo sapiens_hsa040660.32092091
143GnRH signaling pathway_Homo sapiens_hsa049120.31029507
144Fructose and mannose metabolism_Homo sapiens_hsa000510.30887613
145Leukocyte transendothelial migration_Homo sapiens_hsa046700.29746577
146Tryptophan metabolism_Homo sapiens_hsa003800.29567883
147Dopaminergic synapse_Homo sapiens_hsa047280.29389178
148Vibrio cholerae infection_Homo sapiens_hsa051100.28584946
149Renin-angiotensin system_Homo sapiens_hsa046140.28519863
150Rap1 signaling pathway_Homo sapiens_hsa040150.28367696
151Alcoholism_Homo sapiens_hsa050340.28310308
152Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.28304432
153Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.28110484
154Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.27588091
155Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.27074593
156Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.27057133
157Renin secretion_Homo sapiens_hsa049240.25930110
158Bile secretion_Homo sapiens_hsa049760.25765924
159Estrogen signaling pathway_Homo sapiens_hsa049150.25462524
160Epstein-Barr virus infection_Homo sapiens_hsa051690.25162559
161Metabolic pathways_Homo sapiens_hsa011000.24573055
162Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.24395385
163* Taste transduction_Homo sapiens_hsa047420.24074340
164Biosynthesis of amino acids_Homo sapiens_hsa012300.23750280
165Pathways in cancer_Homo sapiens_hsa052000.23558728
166ABC transporters_Homo sapiens_hsa020100.22731939
167Fat digestion and absorption_Homo sapiens_hsa049750.22435648
168Cysteine and methionine metabolism_Homo sapiens_hsa002700.22077489
169Pancreatic secretion_Homo sapiens_hsa049720.21909721
170Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.21152073
171Steroid hormone biosynthesis_Homo sapiens_hsa001400.21104516
172Carbohydrate digestion and absorption_Homo sapiens_hsa049730.20720617
173Inositol phosphate metabolism_Homo sapiens_hsa005620.20532042
174Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.20140441
175TGF-beta signaling pathway_Homo sapiens_hsa043500.19127941
176Platelet activation_Homo sapiens_hsa046110.16368656
177MAPK signaling pathway_Homo sapiens_hsa040100.15667794
178Systemic lupus erythematosus_Homo sapiens_hsa053220.13473650

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