PSPN

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 secreted ligand of the GDNF (glial cell line-derived neurotrophic factor) subfamily and TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein signals through the RET receptor tyrosine kinase and a GPI-linked coreceptor, and promotes survival of neuronal populations. This protein may play a role in cell death, and nervous system development and function. Elevated expression of this gene has been observed in oral squamous cell carcinoma. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)7.28467117
2antigen processing and presentation of endogenous peptide antigen (GO:0002483)7.28467117
3antigen processing and presentation of endogenous antigen (GO:0019883)6.51626739
4behavioral response to nicotine (GO:0035095)6.22734423
5pentose-phosphate shunt (GO:0006098)5.74326337
6NADPH regeneration (GO:0006740)5.24188428
7fucose catabolic process (GO:0019317)5.04021054
8L-fucose metabolic process (GO:0042354)5.04021054
9L-fucose catabolic process (GO:0042355)5.04021054
10regulation of translational fidelity (GO:0006450)4.36630072
11negative regulation of erythrocyte differentiation (GO:0045647)4.03033785
12regulation of protein heterodimerization activity (GO:0043497)4.00298410
13DNA deamination (GO:0045006)3.85395219
14indole-containing compound catabolic process (GO:0042436)3.81971845
15indolalkylamine catabolic process (GO:0046218)3.81971845
16tryptophan catabolic process (GO:0006569)3.81971845
17synaptic vesicle maturation (GO:0016188)3.79860045
18water-soluble vitamin biosynthetic process (GO:0042364)3.73346885
19sodium ion export (GO:0071436)3.70083824
20kynurenine metabolic process (GO:0070189)3.69059720
21regulation of cholesterol homeostasis (GO:2000188)3.68187308
22cellular ketone body metabolic process (GO:0046950)3.65597801
23platelet dense granule organization (GO:0060155)3.61141689
24antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.60453931
25response to pheromone (GO:0019236)3.54992250
26glucose catabolic process (GO:0006007)3.53417450
27indolalkylamine metabolic process (GO:0006586)3.48361238
28detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.47707924
29chaperone mediated protein folding requiring cofactor (GO:0051085)3.46188764
30Arp2/3 complex-mediated actin nucleation (GO:0034314)3.41283696
31protein complex biogenesis (GO:0070271)3.35995989
32mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.35429233
33mitochondrial respiratory chain complex I assembly (GO:0032981)3.35429233
34NADH dehydrogenase complex assembly (GO:0010257)3.35429233
35positive regulation of gamma-delta T cell activation (GO:0046645)3.34696604
36ketone body metabolic process (GO:1902224)3.34039220
37negative regulation of telomere maintenance (GO:0032205)3.32416629
38protein insertion into membrane (GO:0051205)3.27787638
39mitochondrial respiratory chain complex assembly (GO:0033108)3.27379879
40regulation of fatty acid beta-oxidation (GO:0031998)3.26118087
41NAD biosynthetic process (GO:0009435)3.24378068
42tryptophan metabolic process (GO:0006568)3.23721209
43protein polyglutamylation (GO:0018095)3.23619221
44regulation of translational termination (GO:0006449)3.22004790
45cellular response to ATP (GO:0071318)3.21881303
46response to laminar fluid shear stress (GO:0034616)3.16007928
47positive regulation of triglyceride biosynthetic process (GO:0010867)3.15062308
48neuronal action potential (GO:0019228)3.14410775
49cornea development in camera-type eye (GO:0061303)3.12122981
50regulation of nuclear cell cycle DNA replication (GO:0033262)3.11913328
51negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.09566910
52epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.09438897
53respiratory chain complex IV assembly (GO:0008535)3.08751504
54definitive hemopoiesis (GO:0060216)3.08304066
55piRNA metabolic process (GO:0034587)3.04813767
56cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.99687851
57somite development (GO:0061053)2.99686030
58potassium ion export (GO:0071435)2.98422941
59cellular potassium ion homeostasis (GO:0030007)2.98076199
60gamma-aminobutyric acid transport (GO:0015812)2.97426673
61peristalsis (GO:0030432)2.97263425
62nonmotile primary cilium assembly (GO:0035058)2.94988945
63potassium ion homeostasis (GO:0055075)2.94169138
64regulation of erythrocyte differentiation (GO:0045646)2.91676906
65protein-cofactor linkage (GO:0018065)2.88989181
66reciprocal DNA recombination (GO:0035825)2.88454792
67reciprocal meiotic recombination (GO:0007131)2.88454792
68amine catabolic process (GO:0009310)2.87884322
69cellular biogenic amine catabolic process (GO:0042402)2.87884322
70negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.87743478
71negative regulation of cell killing (GO:0031342)2.87743478
72positive regulation of B cell differentiation (GO:0045579)2.87329196
73detection of light stimulus involved in sensory perception (GO:0050962)2.85857407
74detection of light stimulus involved in visual perception (GO:0050908)2.85857407
75preassembly of GPI anchor in ER membrane (GO:0016254)2.85538733
76fucosylation (GO:0036065)2.85457150
77energy coupled proton transport, down electrochemical gradient (GO:0015985)2.83908458
78ATP synthesis coupled proton transport (GO:0015986)2.83908458
79regulation of gamma-delta T cell differentiation (GO:0045586)2.82803235
80viral transcription (GO:0019083)2.80186347
81indole-containing compound metabolic process (GO:0042430)2.79891266
82synaptic transmission, cholinergic (GO:0007271)2.78012599
83retinal cone cell development (GO:0046549)2.77846786
84sulfation (GO:0051923)2.76459568
85epithelial cilium movement (GO:0003351)2.76417809
86neural tube formation (GO:0001841)2.76317264
87kidney morphogenesis (GO:0060993)2.75908369
88protein localization to endosome (GO:0036010)2.75629700
89phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)2.75466100
90primary amino compound metabolic process (GO:1901160)2.73527257
91maternal placenta development (GO:0001893)2.72939912
92cellular hyperosmotic response (GO:0071474)2.72474862
93negative regulation of transcription regulatory region DNA binding (GO:2000678)2.72207250
94regulation of glucose import in response to insulin stimulus (GO:2001273)2.71624575
95axoneme assembly (GO:0035082)2.70914209
96response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.70714508
97response to host (GO:0075136)2.70714508
98response to host defenses (GO:0052200)2.70714508
99positive regulation of histone deacetylation (GO:0031065)2.70572385
100NADP metabolic process (GO:0006739)2.70430942
101behavioral response to ethanol (GO:0048149)2.70404148
102apoptotic process involved in morphogenesis (GO:0060561)2.69475489
103cytochrome complex assembly (GO:0017004)2.69132518
104translational elongation (GO:0006414)2.68884995
105translational termination (GO:0006415)2.68593240
106meiotic chromosome segregation (GO:0045132)2.68243513
107adaptation of signaling pathway (GO:0023058)2.67733484
108endosome to melanosome transport (GO:0035646)2.67168367
109endosome to pigment granule transport (GO:0043485)2.67168367
110pyrimidine nucleobase catabolic process (GO:0006208)2.67088066
111ubiquinone biosynthetic process (GO:0006744)2.66855973
112tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.66222926
113RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.66222926
1144-hydroxyproline metabolic process (GO:0019471)2.66093820
115mitotic G1 DNA damage checkpoint (GO:0031571)2.65468176
116folic acid-containing compound biosynthetic process (GO:0009396)2.65419283
117photoreceptor cell development (GO:0042461)2.63983665
118prepulse inhibition (GO:0060134)2.62530991
119response to host immune response (GO:0052572)2.60956766
120response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.60956766
121negative regulation of mast cell activation (GO:0033004)2.60537963
122negative regulation of reactive oxygen species metabolic process (GO:2000378)2.60431797
123positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)2.59444664
124regulation of action potential (GO:0098900)2.57702205
125T cell apoptotic process (GO:0070231)2.57156096
126regulation of rhodopsin mediated signaling pathway (GO:0022400)2.56764567
127establishment of protein localization to mitochondrial membrane (GO:0090151)2.56446613
128reflex (GO:0060004)2.56223494
129response to mercury ion (GO:0046689)2.55458584
130cilium organization (GO:0044782)2.55371967
131G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.55179982
132regulation of glucokinase activity (GO:0033131)2.54756429
133regulation of hexokinase activity (GO:1903299)2.54756429
134mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.54428430
135positive regulation of triglyceride metabolic process (GO:0090208)2.52378953
136regulation of triglyceride biosynthetic process (GO:0010866)2.52108018
137ubiquinone metabolic process (GO:0006743)2.51666935
138nephron epithelium morphogenesis (GO:0072088)2.51584886
139nephron tubule morphogenesis (GO:0072078)2.51584886
140cilium morphogenesis (GO:0060271)2.51522725
141synaptic vesicle endocytosis (GO:0048488)2.51364513
142rhodopsin mediated signaling pathway (GO:0016056)2.50193079
143formation of translation preinitiation complex (GO:0001731)2.50140245
144cell communication by electrical coupling (GO:0010644)2.49373888
145pseudouridine synthesis (GO:0001522)2.49088309
146regulation of synapse structural plasticity (GO:0051823)2.48184242
147receptor catabolic process (GO:0032801)2.47933743
148positive regulation of protein deacetylation (GO:0090312)2.47807617
149receptor recycling (GO:0001881)2.47782066
150mannosylation (GO:0097502)2.47436874
151platelet aggregation (GO:0070527)2.47397883
152spinal cord motor neuron differentiation (GO:0021522)2.46685825
153mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.46128382
154replication fork processing (GO:0031297)2.46125051
155DNA methylation involved in gamete generation (GO:0043046)2.45674942
156cilium assembly (GO:0042384)2.45215554
157protein import into peroxisome matrix (GO:0016558)2.44551136
158lysine catabolic process (GO:0006554)2.44469041
159lysine metabolic process (GO:0006553)2.44469041
160negative regulation of cell size (GO:0045792)2.44083173
161CDP-diacylglycerol metabolic process (GO:0046341)2.43542167
162response to UV-C (GO:0010225)2.40600919
163membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.40487942
164activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO2.39845460
165protein-lipid complex assembly (GO:0065005)2.39785004
166nucleobase catabolic process (GO:0046113)2.39668355
167recombinational repair (GO:0000725)2.37985116
168multicellular organism reproduction (GO:0032504)2.36558852
169regulation of mesoderm development (GO:2000380)2.36499136
170double-strand break repair via homologous recombination (GO:0000724)2.36413814
171retinal rod cell development (GO:0046548)2.36240496
172protein localization to cilium (GO:0061512)2.35958156
173regulation of gamma-delta T cell activation (GO:0046643)2.35902854
174gluconeogenesis (GO:0006094)2.35866887
175alanine transport (GO:0032328)2.35821787
176positive regulation of erythrocyte differentiation (GO:0045648)2.34691322
177ribosomal small subunit assembly (GO:0000028)2.33881026
178actin nucleation (GO:0045010)2.33678709
179nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)2.33025574
180post-embryonic morphogenesis (GO:0009886)2.32251126
181proline biosynthetic process (GO:0006561)2.31233740
182peptidyl-lysine dimethylation (GO:0018027)2.31145418
183positive regulation of fatty acid beta-oxidation (GO:0032000)2.31061478
184peptidyl-arginine omega-N-methylation (GO:0035247)2.31041511
185translational initiation (GO:0006413)2.29987931
186mating behavior (GO:0007617)2.29897127
187barbed-end actin filament capping (GO:0051016)2.28820551
188negative regulation of lipid transport (GO:0032369)2.28663952
189regulation of cholesterol storage (GO:0010885)2.27004861
190nucleotide salvage (GO:0043173)2.24855507
191CDP-diacylglycerol biosynthetic process (GO:0016024)2.24397982
192positive regulation of lamellipodium organization (GO:1902745)2.24172054
1932-oxoglutarate metabolic process (GO:0006103)2.24098678
194negative regulation of fatty acid transport (GO:2000192)2.22106010
195positive regulation of cell adhesion mediated by integrin (GO:0033630)2.21610027

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ZNF274_21170338_ChIP-Seq_K562_Hela4.46974879
2MYC_22102868_ChIP-Seq_BL_Human3.64292177
3EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.58070118
4VDR_22108803_ChIP-Seq_LS180_Human3.30108720
5EZH2_22144423_ChIP-Seq_EOC_Human3.06993260
6VDR_21846776_ChIP-Seq_THP-1_Human3.04189081
7NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.61221645
8GBX2_23144817_ChIP-Seq_PC3_Human2.59021183
9GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.53298444
10ZFP57_27257070_Chip-Seq_ESCs_Mouse2.49027613
11TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse2.44698849
12HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.41675964
13ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.41309482
14PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.31051216
15E2F7_22180533_ChIP-Seq_HELA_Human2.26052872
16LXR_22292898_ChIP-Seq_THP-1_Human2.22559097
17KDM2B_26808549_Chip-Seq_DND41_Human2.16088044
18GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.15594390
19ELK3_25401928_ChIP-Seq_HUVEC_Human2.13845628
20EWS_26573619_Chip-Seq_HEK293_Human2.13017423
21IGF1R_20145208_ChIP-Seq_DFB_Human2.09796900
22FLI1_27457419_Chip-Seq_LIVER_Mouse2.09430000
23CTBP2_25329375_ChIP-Seq_LNCAP_Human2.08091512
24CTBP1_25329375_ChIP-Seq_LNCAP_Human2.06553158
25MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.06049453
26KDM2B_26808549_Chip-Seq_SIL-ALL_Human2.06016329
27TCF7_22412390_ChIP-Seq_EML_Mouse2.01655895
28UTX_26944678_Chip-Seq_JUKART_Human1.99541311
29VDR_24763502_ChIP-Seq_THP-1_Human1.95628586
30FUS_26573619_Chip-Seq_HEK293_Human1.93637533
31POU3F2_20337985_ChIP-ChIP_501MEL_Human1.87348109
32E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.87149698
33MAF_26560356_Chip-Seq_TH1_Human1.86798914
34NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.86258423
35KDM2B_26808549_Chip-Seq_SUP-B15_Human1.84777077
36SCL_19346495_ChIP-Seq_HPC-7_Human1.84115956
37EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.83584701
38NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.82013675
39MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.80585341
40NOTCH1_21737748_ChIP-Seq_TLL_Human1.80536339
41KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.80506147
42TP53_22573176_ChIP-Seq_HFKS_Human1.79376921
43CLOCK_20551151_ChIP-Seq_293T_Human1.78756807
44TAF15_26573619_Chip-Seq_HEK293_Human1.78718505
45GABP_17652178_ChIP-ChIP_JURKAT_Human1.78700593
46THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.75968014
47P300_19829295_ChIP-Seq_ESCs_Human1.74408580
48TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.74378236
49MYC_18555785_ChIP-Seq_MESCs_Mouse1.72566078
50BMI1_23680149_ChIP-Seq_NPCS_Mouse1.70779401
51PPARA_22158963_ChIP-Seq_LIVER_Mouse1.69772826
52ER_23166858_ChIP-Seq_MCF-7_Human1.66526532
53CBX2_27304074_Chip-Seq_ESCs_Mouse1.64595753
54PCGF2_27294783_Chip-Seq_ESCs_Mouse1.63869153
55HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.63454531
56RACK7_27058665_Chip-Seq_MCF-7_Human1.61696710
57REST_21632747_ChIP-Seq_MESCs_Mouse1.61025414
58RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.58681276
59MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.58547106
60E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.57891499
61RARG_19884340_ChIP-ChIP_MEFs_Mouse1.56605770
62MYC_18940864_ChIP-ChIP_HL60_Human1.56518720
63EST1_17652178_ChIP-ChIP_JURKAT_Human1.55698063
64FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.54767460
65TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.54713153
66SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.53160423
67KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.52674140
68UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.50135185
69FOXM1_23109430_ChIP-Seq_U2OS_Human1.49656141
70SALL1_21062744_ChIP-ChIP_HESCs_Human1.47166062
71RXR_22158963_ChIP-Seq_LIVER_Mouse1.45557456
72CIITA_25753668_ChIP-Seq_RAJI_Human1.45493785
73KDM2B_26808549_Chip-Seq_JURKAT_Human1.45260089
74ZNF263_19887448_ChIP-Seq_K562_Human1.45244986
75MAF_26560356_Chip-Seq_TH2_Human1.43719899
76POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.43031739
77TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.43031739
78BCAT_22108803_ChIP-Seq_LS180_Human1.40737426
79* XRN2_22483619_ChIP-Seq_HELA_Human1.40309502
80BCL6_27268052_Chip-Seq_Bcells_Human1.39534557
81EGR1_19374776_ChIP-ChIP_THP-1_Human1.37371897
82IRF1_19129219_ChIP-ChIP_H3396_Human1.36879718
83GATA3_21878914_ChIP-Seq_MCF-7_Human1.36829581
84AR_25329375_ChIP-Seq_VCAP_Human1.36476679
85FOXA1_27270436_Chip-Seq_PROSTATE_Human1.36278312
86FOXA1_25329375_ChIP-Seq_VCAP_Human1.36278312
87STAT3_23295773_ChIP-Seq_U87_Human1.35500672
88P300_27058665_Chip-Seq_ZR-75-30cells_Human1.34616223
89MYB_21317192_ChIP-Seq_ERMYB_Mouse1.33612889
90TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.33401730
91CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.33365303
92GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.32868112
93P68_20966046_ChIP-Seq_HELA_Human1.31000856
94* NANOG_19829295_ChIP-Seq_ESCs_Human1.29923063
95* SOX2_19829295_ChIP-Seq_ESCs_Human1.29923063
96GATA1_22383799_ChIP-Seq_G1ME_Mouse1.29608304
97ATF3_27146783_Chip-Seq_COLON_Human1.28016356
98SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.27908147
99DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.27858782
100IRF8_22096565_ChIP-ChIP_GC-B_Human1.27712227
101CTCF_27219007_Chip-Seq_ERYTHROID_Human1.27411340
102MYC_19079543_ChIP-ChIP_MESCs_Mouse1.27168929
103GATA1_19941827_ChIP-Seq_MEL_Mouse1.26928823
104BCOR_27268052_Chip-Seq_Bcells_Human1.26595766
105RUNX1_22412390_ChIP-Seq_EML_Mouse1.25899741
106AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.25854333
107ETV2_25802403_ChIP-Seq_MESCs_Mouse1.25773767
108IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.25768309
109CBP_20019798_ChIP-Seq_JUKART_Human1.25768309
110ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.25463705
111BRD4_27068464_Chip-Seq_AML-cells_Mouse1.25114326
112NCOR_22424771_ChIP-Seq_293T_Human1.24986907
113AR_20517297_ChIP-Seq_VCAP_Human1.24377459
114SRY_22984422_ChIP-ChIP_TESTIS_Rat1.23855568
115PCGF2_27294783_Chip-Seq_NPCs_Mouse1.23325918
116KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.22803426
117CTCF_21964334_Chip-Seq_Bcells_Human1.21963053
118ZFP281_18757296_ChIP-ChIP_E14_Mouse1.21193877
119STAT3_1855785_ChIP-Seq_MESCs_Mouse1.20970773
120EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.20143916
121SPI1_23127762_ChIP-Seq_K562_Human1.19997765
122RNF2_27304074_Chip-Seq_NSC_Mouse1.19992717
123CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.19036973
124SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.18905143
125HOXB7_26014856_ChIP-Seq_BT474_Human1.18383942
126TCF4_23295773_ChIP-Seq_U87_Human1.18300057
127KDM2B_26808549_Chip-Seq_K562_Human1.18150913
128PIAS1_25552417_ChIP-Seq_VCAP_Human1.17821994
129MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.17521274
130NCOR1_26117541_ChIP-Seq_K562_Human1.16989820
131SMAD4_21799915_ChIP-Seq_A2780_Human1.16972591
132EED_16625203_ChIP-ChIP_MESCs_Mouse1.16478519
133FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.16446096
134SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.16370610
135NR3C1_21868756_ChIP-Seq_MCF10A_Human1.15785767
136ERA_21632823_ChIP-Seq_H3396_Human1.15500290
137MYC_18358816_ChIP-ChIP_MESCs_Mouse1.15343235
138MYC_19829295_ChIP-Seq_ESCs_Human1.14798726
139TET1_21451524_ChIP-Seq_MESCs_Mouse1.14722984
140ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.14684689
141POU5F1_16153702_ChIP-ChIP_HESCs_Human1.14612021
142REST_18959480_ChIP-ChIP_MESCs_Mouse1.14488613
143EZH2_27304074_Chip-Seq_ESCs_Mouse1.14391321
144EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.14230677
145SMAD3_21741376_ChIP-Seq_EPCs_Human1.13938054
146SA1_27219007_Chip-Seq_ERYTHROID_Human1.13648065
147GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.13490454
148RUNX2_22187159_ChIP-Seq_PCA_Human1.13284112
149FOXA1_21572438_ChIP-Seq_LNCaP_Human1.13130652
150SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.12136987
151RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.12063222
152TCF4_22108803_ChIP-Seq_LS180_Human1.10724957
153SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.10716944
154AR_21572438_ChIP-Seq_LNCaP_Human1.10686628
155EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.10362448
156RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.10120408
157KLF5_20875108_ChIP-Seq_MESCs_Mouse1.10114426
158* TAF2_19829295_ChIP-Seq_ESCs_Human1.09981899
159TP63_19390658_ChIP-ChIP_HaCaT_Human1.09740539
160KLF4_18555785_ChIP-Seq_MESCs_Mouse1.09255069
161SMAD4_21741376_ChIP-Seq_EPCs_Human1.08647753
162PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.08512298
163SUZ12_27294783_Chip-Seq_NPCs_Mouse1.08479654
164* PHF8_20622854_ChIP-Seq_HELA_Human1.08115748
165VDR_23849224_ChIP-Seq_CD4+_Human1.07625371
166CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.07299126
167CREB1_26743006_Chip-Seq_LNCaP_Human1.07238605
168ELF1_20517297_ChIP-Seq_JURKAT_Human1.06934416
169CTCF_21964334_ChIP-Seq_BJAB-B_Human1.04881023
170UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.04806245
171EZH2_27294783_Chip-Seq_ESCs_Mouse1.04711593
172CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.04526691
173JARID2_20064375_ChIP-Seq_MESCs_Mouse1.04468675
174TOP2B_26459242_ChIP-Seq_MCF-7_Human1.04304248
175NFE2_27457419_Chip-Seq_LIVER_Mouse1.04180565
176* NANOG_20526341_ChIP-Seq_ESCs_Human1.03888332
177HIF1A_21447827_ChIP-Seq_MCF-7_Human1.03278479
178GATA1_19941826_ChIP-Seq_K562_Human1.02114093
179* SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.01059667
180CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.01024326
181KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.00904764
182ZFX_18555785_ChIP-Seq_MESCs_Mouse1.00474190
183EZH2_27294783_Chip-Seq_NPCs_Mouse0.99828435
184MYB_26560356_Chip-Seq_TH2_Human0.99537666
185KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.98570813
186NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.98217152
187SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.98202820
188FLI1_21867929_ChIP-Seq_TH2_Mouse0.97872174
189ETS1_20019798_ChIP-Seq_JURKAT_Human0.97596885
190FOXH1_21741376_ChIP-Seq_EPCs_Human0.96424564
191AUTS2_25519132_ChIP-Seq_293T-REX_Human0.96236730
192STAT6_20620947_ChIP-Seq_CD4_POS_T_Human0.96094273
193FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.95666535
194THAP11_20581084_ChIP-Seq_MESCs_Mouse0.94676501
195MYB_26560356_Chip-Seq_TH1_Human0.94622632
196SPI1_23547873_ChIP-Seq_NB4_Human0.94557058
197OCT4_20526341_ChIP-Seq_ESCs_Human0.94342798
198AR_21909140_ChIP-Seq_LNCAP_Human0.93851749
199DNAJC2_21179169_ChIP-ChIP_NT2_Human0.93759812

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009840_abnormal_foam_cell3.23431721
2MP0002102_abnormal_ear_morphology3.12165336
3MP0003705_abnormal_hypodermis_morpholog2.92457996
4MP0003136_yellow_coat_color2.76970086
5MP0001348_abnormal_lacrimal_gland2.74937259
6MP0001968_abnormal_touch/_nociception2.74001731
7MP0001986_abnormal_taste_sensitivity2.64270343
8MP0003195_calcinosis2.64040552
9MP0004233_abnormal_muscle_weight2.54142305
10MP0000569_abnormal_digit_pigmentation2.50734276
11MP0003172_abnormal_lysosome_physiology2.38418867
12MP0008877_abnormal_DNA_methylation2.36959609
13MP0002736_abnormal_nociception_after2.22870620
14MP0002837_dystrophic_cardiac_calcinosis2.22801539
15MP0002139_abnormal_hepatobiliary_system2.22316240
16MP0009278_abnormal_bone_marrow2.16384838
17MP0004885_abnormal_endolymph2.12838785
18MP0004142_abnormal_muscle_tone2.06748530
19MP0002653_abnormal_ependyma_morphology2.01852417
20MP0001485_abnormal_pinna_reflex2.01073163
21MP0003303_peritoneal_inflammation2.00399370
22MP0005058_abnormal_lysosome_morphology1.98333075
23MP0009046_muscle_twitch1.98094299
24MP0005360_urolithiasis1.94222821
25MP0001984_abnormal_olfaction1.91029954
26MP0009745_abnormal_behavioral_response1.87220193
27MP0005076_abnormal_cell_differentiation1.85722159
28MP0010234_abnormal_vibrissa_follicle1.83993837
29MP0003283_abnormal_digestive_organ1.82429386
30MP0010352_gastrointestinal_tract_polyps1.81842882
31MP0006292_abnormal_olfactory_placode1.80474670
32MP0002876_abnormal_thyroid_physiology1.80152755
33MP0008872_abnormal_physiological_respon1.79649629
34MP0003646_muscle_fatigue1.79006087
35MP0004147_increased_porphyrin_level1.78429680
36MP0002938_white_spotting1.76491379
37MP0002735_abnormal_chemical_nociception1.75688245
38MP0005377_hearing/vestibular/ear_phenot1.75487329
39MP0003878_abnormal_ear_physiology1.75487329
40MP0004742_abnormal_vestibular_system1.72950299
41MP0002638_abnormal_pupillary_reflex1.72045916
42MP0000685_abnormal_immune_system1.69203771
43MP0000604_amyloidosis1.67796597
44MP0003011_delayed_dark_adaptation1.67118706
45MP0005464_abnormal_platelet_physiology1.66974713
46MP0005397_hematopoietic_system_phenotyp1.65418919
47MP0001545_abnormal_hematopoietic_system1.65418919
48MP0000372_irregular_coat_pigmentation1.65016841
49MP0004510_myositis1.64917557
50MP0002090_abnormal_vision1.64350467
51MP0006072_abnormal_retinal_apoptosis1.63223363
52MP0002272_abnormal_nervous_system1.63195478
53MP0005174_abnormal_tail_pigmentation1.62588117
54MP0004808_abnormal_hematopoietic_stem1.61658973
55MP0005253_abnormal_eye_physiology1.61445663
56MP0004133_heterotaxia1.60418063
57MP0004043_abnormal_pH_regulation1.60093448
58MP0003329_amyloid_beta_deposits1.57149621
59MP0008875_abnormal_xenobiotic_pharmacok1.56004378
60MP0001873_stomach_inflammation1.55801883
61MP0001486_abnormal_startle_reflex1.55291905
62MP0003191_abnormal_cellular_cholesterol1.52887277
63MP0003880_abnormal_central_pattern1.52289633
64MP0000689_abnormal_spleen_morphology1.51785497
65MP0003300_gastrointestinal_ulcer1.49546413
66MP0002398_abnormal_bone_marrow1.49368088
67MP0004782_abnormal_surfactant_physiolog1.43835822
68MP0002722_abnormal_immune_system1.41940218
69MP0001970_abnormal_pain_threshold1.41006202
70MP0002733_abnormal_thermal_nociception1.39891303
71MP0005646_abnormal_pituitary_gland1.38413057
72MP0000427_abnormal_hair_cycle1.38208096
73MP0008007_abnormal_cellular_replicative1.37941797
74MP0005423_abnormal_somatic_nervous1.37315031
75MP0001835_abnormal_antigen_presentation1.36445572
76MP0005645_abnormal_hypothalamus_physiol1.35850988
77MP0002234_abnormal_pharynx_morphology1.35493661
78MP0003656_abnormal_erythrocyte_physiolo1.34699032
79MP0002064_seizures1.33528166
80MP0002089_abnormal_postnatal_growth/wei1.32980451
81MP0003566_abnormal_cell_adhesion1.32297896
82MP0002572_abnormal_emotion/affect_behav1.31979861
83MP0001790_abnormal_immune_system1.31718662
84MP0005387_immune_system_phenotype1.31718662
85MP0001730_embryonic_growth_arrest1.31711555
86MP0005084_abnormal_gallbladder_morpholo1.31687668
87MP0006276_abnormal_autonomic_nervous1.31364734
88MP0002166_altered_tumor_susceptibility1.31363352
89MP0003436_decreased_susceptibility_to1.29179299
90MP0008961_abnormal_basal_metabolism1.29050684
91MP0001800_abnormal_humoral_immune1.28279757
92MP0008770_decreased_survivor_rate1.27460287
93MP0001905_abnormal_dopamine_level1.27202795
94MP0000631_abnormal_neuroendocrine_gland1.26306243
95MP0002269_muscular_atrophy1.25383921
96MP0003866_abnormal_defecation1.25333468
97MP0003787_abnormal_imprinting1.25317880
98MP0004130_abnormal_muscle_cell1.23916228
99MP0002277_abnormal_respiratory_mucosa1.23803436
100MP0010307_abnormal_tumor_latency1.23292304
101MP0005171_absent_coat_pigmentation1.23096234
102MP0002429_abnormal_blood_cell1.21790564
103MP0000747_muscle_weakness1.20756929
104MP0002557_abnormal_social/conspecific_i1.20719740
105MP0002734_abnormal_mechanical_nocicepti1.20143566
106MP0001501_abnormal_sleep_pattern1.19914440
107MP0000716_abnormal_immune_system1.19675205
108MP0002452_abnormal_antigen_presenting1.16375947
109MP0003111_abnormal_nucleus_morphology1.15086529
110MP0000598_abnormal_liver_morphology1.14873612
111MP0003763_abnormal_thymus_physiology1.14559889
112MP0002067_abnormal_sensory_capabilities1.14554340
113MP0002877_abnormal_melanocyte_morpholog1.14283710
114MP0008438_abnormal_cutaneous_collagen1.11815091
115MP0002420_abnormal_adaptive_immunity1.11684895
116MP0005386_behavior/neurological_phenoty1.11482180
117MP0004924_abnormal_behavior1.11482180
118MP0000609_abnormal_liver_physiology1.10510467
119MP0003137_abnormal_impulse_conducting1.09683815
120MP0002063_abnormal_learning/memory/cond1.09100457
121MP0004858_abnormal_nervous_system1.08310441
122MP0005623_abnormal_meninges_morphology1.08095276
123MP0001819_abnormal_immune_cell1.06963528
124MP0000490_abnormal_crypts_of1.06860206
125MP0000703_abnormal_thymus_morphology1.05542431
126MP0003635_abnormal_synaptic_transmissio1.05345590
127MP0001529_abnormal_vocalization1.04262687
128MP0009333_abnormal_splenocyte_physiolog1.03993054
129MP0005195_abnormal_posterior_eye1.03552449
130MP0002723_abnormal_immune_serum1.02310357
131MP0002332_abnormal_exercise_endurance1.02167851
132MP0006082_CNS_inflammation1.02055358
133MP0000534_abnormal_ureter_morphology1.01862364
134MP0000778_abnormal_nervous_system1.01176593
135MP0000026_abnormal_inner_ear1.00804435
136MP0002019_abnormal_tumor_incidence1.00474154
137MP0005670_abnormal_white_adipose1.00166830
138MP0002095_abnormal_skin_pigmentation0.98223317
139MP0002405_respiratory_system_inflammati0.97574377
140MP0010329_abnormal_lipoprotein_level0.97334599
141MP0001919_abnormal_reproductive_system0.97017668
142MP0005389_reproductive_system_phenotype0.96807956
143MP0000566_synostosis0.95569902
144MP0010386_abnormal_urinary_bladder0.94986924
145MP0004215_abnormal_myocardial_fiber0.94070521
146MP0003718_maternal_effect0.94060286
147MP0005410_abnormal_fertilization0.93073380
148MP0002160_abnormal_reproductive_system0.92759787
149MP0003221_abnormal_cardiomyocyte_apopto0.92198074
150MP0005220_abnormal_exocrine_pancreas0.92189732
151MP0002928_abnormal_bile_duct0.90569392
152MP0005023_abnormal_wound_healing0.90498284
153MP0001293_anophthalmia0.89454804
154MP0000350_abnormal_cell_proliferation0.89179706
155MP0001915_intracranial_hemorrhage0.88705364
156MP0001324_abnormal_eye_pigmentation0.88295971
157MP0000383_abnormal_hair_follicle0.88232862
158MP0002396_abnormal_hematopoietic_system0.86281767
159MP0000465_gastrointestinal_hemorrhage0.86275820
160MP0000313_abnormal_cell_death0.85946104
161MP0005167_abnormal_blood-brain_barrier0.85612611
162MP0003119_abnormal_digestive_system0.85165540
163MP0001963_abnormal_hearing_physiology0.85034368
164MP0002752_abnormal_somatic_nervous0.84174769
165MP0010630_abnormal_cardiac_muscle0.84155227
166MP0002163_abnormal_gland_morphology0.83462416
167MP0002254_reproductive_system_inflammat0.83139860
168MP0009053_abnormal_anal_canal0.82870781
169MP0002080_prenatal_lethality0.82348800
170MP0003943_abnormal_hepatobiliary_system0.82113444
171MP0005000_abnormal_immune_tolerance0.81534242
172MP0002184_abnormal_innervation0.81359904
173MP0005379_endocrine/exocrine_gland_phen0.80651728
174MP0004019_abnormal_vitamin_homeostasis0.80377293
175MP0005551_abnormal_eye_electrophysiolog0.80235604
176MP0004145_abnormal_muscle_electrophysio0.80003152
177MP0000858_altered_metastatic_potential0.79802117
178MP0004084_abnormal_cardiac_muscle0.79270099
179MP0005584_abnormal_enzyme/coenzyme_acti0.79237497
180MP0005025_abnormal_response_to0.78941452
181MP0000538_abnormal_urinary_bladder0.78409513
182MP0001502_abnormal_circadian_rhythm0.78374072
183MP0002693_abnormal_pancreas_physiology0.78083963
184MP0005332_abnormal_amino_acid0.78047541
185MP0000230_abnormal_systemic_arterial0.77983452
186MP0002751_abnormal_autonomic_nervous0.77466008
187MP0003453_abnormal_keratinocyte_physiol0.76919435
188MP0004947_skin_inflammation0.76629206
189MP0010155_abnormal_intestine_physiology0.76434053
190MP0003252_abnormal_bile_duct0.76313293
191MP0008995_early_reproductive_senescence0.75587808
192MP0002138_abnormal_hepatobiliary_system0.75286006
193MP0008569_lethality_at_weaning0.74096122
194MP0005319_abnormal_enzyme/_coenzyme0.74078489
195MP0001188_hyperpigmentation0.74064501

Predicted human phenotypes

RankGene SetZ-score
1Congenital stationary night blindness (HP:0007642)4.87091394
2Chronic otitis media (HP:0000389)4.43243387
3Molar tooth sign on MRI (HP:0002419)4.41901242
4Abnormality of midbrain morphology (HP:0002418)4.41901242
5Pancreatic cysts (HP:0001737)4.37972915
6Severe visual impairment (HP:0001141)4.02464729
7Pancreatic fibrosis (HP:0100732)4.00396278
8Nephronophthisis (HP:0000090)3.84877504
9True hermaphroditism (HP:0010459)3.83103943
10Attenuation of retinal blood vessels (HP:0007843)3.81407510
11Abnormal rod and cone electroretinograms (HP:0008323)3.52075176
12Central scotoma (HP:0000603)3.44469528
13Abnormal gallbladder physiology (HP:0012438)3.40901079
14Cholecystitis (HP:0001082)3.40901079
15Increased cerebral lipofuscin (HP:0011813)3.39112708
16Long toe (HP:0010511)3.27025928
17Aplastic anemia (HP:0001915)3.26228134
18Abnormality of the renal medulla (HP:0100957)3.24164350
19Abnormality of the renal cortex (HP:0011035)3.20704413
20Gastrointestinal inflammation (HP:0004386)3.11782913
21Birth length less than 3rd percentile (HP:0003561)3.09730117
22Abnormality of pyruvate family amino acid metabolism (HP:0010915)3.05385177
23Abnormality of alanine metabolism (HP:0010916)3.05385177
24Hyperalaninemia (HP:0003348)3.05385177
25Cerebral aneurysm (HP:0004944)2.99302877
26Albinism (HP:0001022)2.98879508
27Hyperventilation (HP:0002883)2.93421847
28Tubular atrophy (HP:0000092)2.92818250
29Ventricular fibrillation (HP:0001663)2.90854616
30Increased neuronal autofluorescent lipopigment (HP:0002074)2.90517082
31Pendular nystagmus (HP:0012043)2.86772834
32Angiofibromas (HP:0010615)2.84667305
33Adenoma sebaceum (HP:0009720)2.84667305
34Thrombocytosis (HP:0001894)2.80946713
35Abolished electroretinogram (ERG) (HP:0000550)2.79791066
36Type II lissencephaly (HP:0007260)2.77436255
37Nasal polyposis (HP:0100582)2.75282039
38Growth hormone excess (HP:0000845)2.74430238
39Cystic liver disease (HP:0006706)2.71848430
40Patellar aplasia (HP:0006443)2.70142257
41Abnormal drinking behavior (HP:0030082)2.69014241
42Polydipsia (HP:0001959)2.69014241
43Posterior subcapsular cataract (HP:0007787)2.68973767
44Medial flaring of the eyebrow (HP:0010747)2.64969790
45Large for gestational age (HP:0001520)2.62356901
46Stenosis of the external auditory canal (HP:0000402)2.60714364
47Limb-girdle muscle atrophy (HP:0003797)2.59815855
48Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.59718887
49Aplasia/Hypoplasia of the patella (HP:0006498)2.59180268
50Loss of speech (HP:0002371)2.58577758
51Concave nail (HP:0001598)2.57577004
52Cellulitis (HP:0100658)2.56699775
53Congenital, generalized hypertrichosis (HP:0004540)2.51174518
54Inability to walk (HP:0002540)2.50414297
55Verrucae (HP:0200043)2.48541680
56Papilloma (HP:0012740)2.48541680
57Decreased central vision (HP:0007663)2.47133589
58Colitis (HP:0002583)2.46220478
59Hypercortisolism (HP:0001578)2.45673418
60Chronic hepatic failure (HP:0100626)2.44493476
61Abnormal platelet volume (HP:0011876)2.43082700
62Sclerocornea (HP:0000647)2.40451830
63Optic disc pallor (HP:0000543)2.38022697
64Recurrent viral infections (HP:0004429)2.36885102
65Cutaneous melanoma (HP:0012056)2.36637034
66Abnormality of the nasal mucosa (HP:0000433)2.36255421
67Furrowed tongue (HP:0000221)2.34346558
68Global brain atrophy (HP:0002283)2.31623363
69Decreased electroretinogram (ERG) amplitude (HP:0000654)2.29222981
70Increased density of long bones (HP:0006392)2.28394603
71Scotoma (HP:0000575)2.28065749
72Absent/shortened dynein arms (HP:0200106)2.27966874
73Dynein arm defect of respiratory motile cilia (HP:0012255)2.27966874
74Abnormality of the pons (HP:0007361)2.27868896
75Renal cortical cysts (HP:0000803)2.25459604
76Mitochondrial inheritance (HP:0001427)2.25032147
77Prolonged bleeding time (HP:0003010)2.24441305
78Multiple lipomas (HP:0001012)2.24189021
79Bony spicule pigmentary retinopathy (HP:0007737)2.23208462
80Increased mean platelet volume (HP:0011877)2.23167904
81Spastic diplegia (HP:0001264)2.22163101
82Cerebral inclusion bodies (HP:0100314)2.21915896
83Hypoplasia of the pons (HP:0012110)2.21169306
84Methylmalonic acidemia (HP:0002912)2.21148006
85Acute necrotizing encephalopathy (HP:0006965)2.20441840
86Neoplasm of the adrenal cortex (HP:0100641)2.15392843
87Acute encephalopathy (HP:0006846)2.14877613
88Gastrointestinal dysmotility (HP:0002579)2.14640033
89Ulnar bowing (HP:0003031)2.14275237
90Polyuria (HP:0000103)2.14041166
91Anencephaly (HP:0002323)2.13556991
92Gait imbalance (HP:0002141)2.13549432
93Inflammation of the large intestine (HP:0002037)2.13361097
94Polycythemia (HP:0001901)2.12766534
95Increased corneal curvature (HP:0100692)2.11925173
96Keratoconus (HP:0000563)2.11925173
97Congenital hepatic fibrosis (HP:0002612)2.11269746
98Neonatal onset (HP:0003623)2.10511048
99Abnormality of the sella turcica (HP:0002679)2.09380198
100Multiple enchondromatosis (HP:0005701)2.09245450
101J-shaped sella turcica (HP:0002680)2.08616327
102Personality changes (HP:0000751)2.08218665
103Increased CSF lactate (HP:0002490)2.07964904
104Bile duct proliferation (HP:0001408)2.07789365
105Abnormal biliary tract physiology (HP:0012439)2.07789365
106Lissencephaly (HP:0001339)2.07100601
107Rib fusion (HP:0000902)2.07061867
108Xanthomatosis (HP:0000991)2.04420009
109Abnormality of the labia minora (HP:0012880)2.04097748
1103-Methylglutaconic aciduria (HP:0003535)2.03701254
111Fibroma (HP:0010614)2.03399944
112Fibrous tissue neoplasm (HP:0012316)2.03354035
113Progressive cerebellar ataxia (HP:0002073)2.02866237
114Chorioretinal atrophy (HP:0000533)2.02840800
115Decreased circulating renin level (HP:0003351)2.02600573
116Abnormal respiratory epithelium morphology (HP:0012253)2.02302979
117Abnormal respiratory motile cilium morphology (HP:0005938)2.02302979
118Deep venous thrombosis (HP:0002625)2.01937821
119Male pseudohermaphroditism (HP:0000037)2.00753897
120Progressive inability to walk (HP:0002505)2.00129395
121Congenital primary aphakia (HP:0007707)1.99791861
122Protrusio acetabuli (HP:0003179)1.99413485
123Upper limb amyotrophy (HP:0009129)1.99235079
124Distal upper limb amyotrophy (HP:0007149)1.99235079
125Emphysema (HP:0002097)1.99224450
126Aplasia/Hypoplasia of the tongue (HP:0010295)1.99118817
127Interstitial pulmonary disease (HP:0006530)1.99078599
128Neoplasm of the adrenal gland (HP:0100631)1.98717889
129Myoglobinuria (HP:0002913)1.98228271
130Progressive macrocephaly (HP:0004481)1.98187746
131Dysostosis multiplex (HP:0000943)1.97504414
132Methylmalonic aciduria (HP:0012120)1.97061283
133Severe muscular hypotonia (HP:0006829)1.95493629
134Cerebellar dysplasia (HP:0007033)1.95099294
135Epistaxis (HP:0000421)1.93780464
136Abnormality of macular pigmentation (HP:0008002)1.92441109
137Supranuclear gaze palsy (HP:0000605)1.91829296
138Abnormality of subcutaneous fat tissue (HP:0001001)1.90094160
139Nephrogenic diabetes insipidus (HP:0009806)1.89888627
140Hemiparesis (HP:0001269)1.89805341
141Hyperacusis (HP:0010780)1.89729817
142Abnormal mitochondria in muscle tissue (HP:0008316)1.89574737
143Chronic sinusitis (HP:0011109)1.89512720
144Lipid accumulation in hepatocytes (HP:0006561)1.88999497
145Recurrent fungal infections (HP:0002841)1.88437747
146Increased hepatocellular lipid droplets (HP:0006565)1.87997453
147Rhabdomyolysis (HP:0003201)1.87898843
148Lymphangioma (HP:0100764)1.87874642
149Poikiloderma (HP:0001029)1.87817525
150Urinary glycosaminoglycan excretion (HP:0003541)1.87341841
151Mucopolysacchariduria (HP:0008155)1.87341841
152Tongue fasciculations (HP:0001308)1.87066074
153Ketoacidosis (HP:0001993)1.86049360
154Broad-based gait (HP:0002136)1.84267180
155Hand muscle atrophy (HP:0009130)1.84256494
156Chest pain (HP:0100749)1.83777280
157Deep palmar crease (HP:0006191)1.83066276
158Abnormality of the heme biosynthetic pathway (HP:0010472)1.82347481
159Visual hallucinations (HP:0002367)1.81763201
160Aplasia/Hypoplasia of the tibia (HP:0005772)1.81374363
161Hepatic necrosis (HP:0002605)1.79722491
162Muscle fibrillation (HP:0010546)1.79626224
163Mesangial abnormality (HP:0001966)1.79554825
164Fair hair (HP:0002286)1.78342369
165Cholelithiasis (HP:0001081)1.77505554
166Protruding tongue (HP:0010808)1.77240428
167Tachypnea (HP:0002789)1.76672448
168Recurrent bronchitis (HP:0002837)1.76532157
169Hyperammonemia (HP:0001987)1.75989382
170Focal motor seizures (HP:0011153)1.75863905
171Absent thumb (HP:0009777)1.75470352
172Vertebral compression fractures (HP:0002953)1.75416250
173Hepatocellular necrosis (HP:0001404)1.75360801
174Gaze-evoked nystagmus (HP:0000640)1.75202135
175Abnormal number of erythroid precursors (HP:0012131)1.74736472
176Purpura (HP:0000979)1.73328510
177Clumsiness (HP:0002312)1.72831702
178Hypothermia (HP:0002045)1.71826484
179Gingival bleeding (HP:0000225)1.71406368
180Rapidly progressive (HP:0003678)1.71401760
181Postaxial foot polydactyly (HP:0001830)1.71019849
182Striae distensae (HP:0001065)1.70751782
183Congenital sensorineural hearing impairment (HP:0008527)1.70314782
184Mitral stenosis (HP:0001718)1.69702754
185Annular pancreas (HP:0001734)1.69643643
186Reticulocytosis (HP:0001923)1.69609793
187Pachygyria (HP:0001302)1.69142270
188Abnormality of long-chain fatty-acid metabolism (HP:0010964)1.68938486
189Abnormal urine output (HP:0012590)1.68885638
190Abnormality of endocrine pancreas physiology (HP:0012093)1.68554879
191Abnormality of the pancreatic islet cells (HP:0006476)1.68554879
192Ketosis (HP:0001946)1.65918917
193Progressive microcephaly (HP:0000253)1.65599362
194Cervical subluxation (HP:0003308)1.65587158
195Absent rod-and cone-mediated responses on ERG (HP:0007688)1.65156707
196Genital tract atresia (HP:0001827)1.64856152
197Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.64424188
198Aplasia/Hypoplasia of the macula (HP:0008059)1.63828590

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TRIB35.22865516
2INSRR4.56904615
3FRK4.42455547
4EEF2K3.84310871
5ADRBK23.67600996
6PKN23.35122619
7BMPR1B3.21122013
8WNK42.93591111
9ZAK2.81105857
10MAP4K22.69983246
11WNK32.59472211
12GRK12.53736318
13MAP4K12.48955746
14NUAK12.47860460
15MAP3K102.44895168
16ERN12.38855533
17ACVR1B2.38183405
18LRRK22.33561184
19SIK12.31242817
20CDK192.18769908
21CASK2.16026083
22CAMKK22.13704051
23TLK12.07931978
24PINK12.00016151
25BMX1.94567547
26MAPK131.92727270
27DAPK21.88990334
28SIK21.86935229
29SCYL21.80023452
30FGFR41.72564000
31GRK61.71330323
32ILK1.66439996
33OXSR11.66028588
34TTN1.60327539
35TAOK31.59593559
36TXK1.50347973
37STK391.45494349
38PNCK1.41979274
39CAMKK11.41534754
40TYK21.41531885
41BCKDK1.40470881
42MARK11.39611528
43ICK1.39540891
44TGFBR11.37702737
45ADRBK11.33640925
46KSR21.33209679
47PTK61.32914818
48MAPK151.31943295
49RIPK11.30048202
50TRIM281.29748025
51DYRK21.29736382
52JAK31.29625567
53TESK21.26252467
54CSF1R1.25985127
55ARAF1.25248867
56TNK21.23620547
57MKNK21.22538271
58KIT1.21478713
59RPS6KA41.20444420
60FGR1.20036895
61RAF11.17885404
62MAP3K71.17701165
63NEK11.16634482
64NEK21.16012925
65TBK11.13749524
66ZAP701.11805904
67CAMK1D1.11442806
68PRKCG1.10324127
69PAK41.08423372
70NME21.06226199
71VRK11.06172443
72MAPK111.04067148
73ALK1.03584486
74PIM21.03463354
75PAK31.01288901
76FLT30.96350949
77MAP3K90.95590541
78PHKG20.94771228
79PHKG10.94771228
80DYRK1B0.94692090
81VRK20.91816401
82TIE10.89637520
83MAP3K110.89551091
84MAP2K70.88899673
85MAP3K80.88849601
86PIM10.85619598
87NTRK30.85592561
88KDR0.83087750
89PRKCE0.79283774
90CSNK1G20.78868775
91MAP3K130.78121999
92STK160.77858107
93RPS6KB20.77318500
94GRK70.77111915
95MARK30.75437983
96PTK20.74701604
97MUSK0.74655501
98PDGFRA0.73111882
99MARK20.73000381
100PLK20.72793944
101WEE10.72347365
102CSNK1G10.72278446
103MAP2K60.72257223
104CDK11A0.71544556
105EPHB10.71169288
106BRSK20.70751990
107CAMK40.69645693
108MKNK10.68622888
109CSNK1G30.68485785
110JAK10.67350316
111PLK40.66184338
112PKN10.66099855
113PRKCQ0.64493524
114PLK30.64314388
115STK100.64207975
116TAOK20.63458273
117MET0.63412462
118RPS6KA50.62771441
119IKBKB0.61590846
120CDK150.60902301
121CDK140.60651616
122DAPK30.58995713
123STK38L0.58808373
124ROCK20.58655130
125BTK0.57991715
126FES0.57106766
127TNIK0.56590954
128MAP2K30.55813358
129CDK40.55721767
130FGFR20.55051531
131NTRK20.54197215
132PIK3CA0.53968647
133MAPKAPK50.53846002
134PAK20.53741431
135CSNK1A1L0.53386314
136HIPK20.53271320
137JAK20.53250672
138SYK0.52959021
139RET0.50825828
140MAP3K40.50581196
141RPS6KA20.50563363
142RPS6KC10.49937140
143RPS6KL10.49937140
144CHEK20.49863566
145CDK180.49780990
146CAMK2A0.48887050
147STK240.48231691
148PRKACA0.47794771
149PRKCH0.47539431
150PRKD10.47535289
151RPS6KA60.47484485
152PAK10.47334323
153PAK60.45775521
154CHUK0.45383965
155DDR20.45352555
156CAMK10.44399094
157TAF10.44180169
158CSNK1A10.44156145
159GRK50.43410359
160CAMK1G0.43280284
161PDGFRB0.42733484
162STK110.42551702
163FGFR30.42098735
164EPHB20.41619946
165MINK10.40146090
166PRKCI0.40023689
167NTRK10.39893458
168IKBKE0.39358158
169STK30.39027394
170PRKCZ0.38525315
171DAPK10.37821267
172MTOR0.37285287
173NME10.35855753
174PRKCA0.35718010
175LCK0.35584470
176PRKG10.35290854
177CSNK1D0.34797854
178MAPKAPK20.34662145
179PTK2B0.34050868
180PLK10.32430861
181MAPKAPK30.32230972
182ATR0.31182153
183EPHA40.30937905
184TEC0.29446988
185CDK30.27113239
186ERBB30.26346787
187CDC70.25671367
188ITK0.25392538
189MAP2K10.24891257
190OBSCN0.23279315

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006044.24675303
2Taurine and hypotaurine metabolism_Homo sapiens_hsa004303.35440820
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.74134106
4Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.64393283
5Phototransduction_Homo sapiens_hsa047442.58593846
6Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.57021816
7Nitrogen metabolism_Homo sapiens_hsa009102.55319320
8Pentose phosphate pathway_Homo sapiens_hsa000302.49132021
9Oxidative phosphorylation_Homo sapiens_hsa001902.44822697
10Biosynthesis of amino acids_Homo sapiens_hsa012302.43850879
11Linoleic acid metabolism_Homo sapiens_hsa005912.38160435
12Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.33168486
13Butanoate metabolism_Homo sapiens_hsa006502.31981252
14Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.30236415
15alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.26892544
16Maturity onset diabetes of the young_Homo sapiens_hsa049502.18544027
17Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.14190690
18Nicotine addiction_Homo sapiens_hsa050332.13461211
19Carbon metabolism_Homo sapiens_hsa012002.11360778
20Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.03105847
21Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.97184447
22Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.95706565
232-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.91468758
24Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.88824128
25Caffeine metabolism_Homo sapiens_hsa002321.84792704
26Protein export_Homo sapiens_hsa030601.84737320
27Parkinsons disease_Homo sapiens_hsa050121.84574573
28Homologous recombination_Homo sapiens_hsa034401.83300293
29Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.83068835
30Ether lipid metabolism_Homo sapiens_hsa005651.78561137
31Chronic myeloid leukemia_Homo sapiens_hsa052201.70894081
32Central carbon metabolism in cancer_Homo sapiens_hsa052301.68689908
33Olfactory transduction_Homo sapiens_hsa047401.67037521
34B cell receptor signaling pathway_Homo sapiens_hsa046621.64511157
35Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.64012148
36Tryptophan metabolism_Homo sapiens_hsa003801.61792232
37Fanconi anemia pathway_Homo sapiens_hsa034601.57510592
38Fructose and mannose metabolism_Homo sapiens_hsa000511.54910851
39RNA polymerase_Homo sapiens_hsa030201.50177521
40Fatty acid degradation_Homo sapiens_hsa000711.48613036
41Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.43636512
42Basal transcription factors_Homo sapiens_hsa030221.41219225
43Shigellosis_Homo sapiens_hsa051311.40098357
44Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.38352636
45Taste transduction_Homo sapiens_hsa047421.37310142
46Selenocompound metabolism_Homo sapiens_hsa004501.36384566
47Primary immunodeficiency_Homo sapiens_hsa053401.33437810
48Synaptic vesicle cycle_Homo sapiens_hsa047211.30973829
49Cardiac muscle contraction_Homo sapiens_hsa042601.25573976
50Arginine biosynthesis_Homo sapiens_hsa002201.25163067
51Morphine addiction_Homo sapiens_hsa050321.23132140
52Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.21766247
53VEGF signaling pathway_Homo sapiens_hsa043701.21382563
54Huntingtons disease_Homo sapiens_hsa050161.20833862
55Alzheimers disease_Homo sapiens_hsa050101.19915192
56Primary bile acid biosynthesis_Homo sapiens_hsa001201.12303575
57Neurotrophin signaling pathway_Homo sapiens_hsa047221.11330307
58Cysteine and methionine metabolism_Homo sapiens_hsa002701.11225208
59Platelet activation_Homo sapiens_hsa046111.11032813
60Intestinal immune network for IgA production_Homo sapiens_hsa046721.10486354
61Peroxisome_Homo sapiens_hsa041461.09226020
62Fatty acid metabolism_Homo sapiens_hsa012121.03722758
63Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.02987163
64Chemical carcinogenesis_Homo sapiens_hsa052041.02534200
65Insulin secretion_Homo sapiens_hsa049111.01713930
66Sulfur relay system_Homo sapiens_hsa041221.01520122
67Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.00948983
68Pancreatic cancer_Homo sapiens_hsa052120.99405215
69mTOR signaling pathway_Homo sapiens_hsa041500.99222911
70Ribosome_Homo sapiens_hsa030100.96200108
71Adipocytokine signaling pathway_Homo sapiens_hsa049200.95931899
72Small cell lung cancer_Homo sapiens_hsa052220.93576229
73Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.92610880
74Endocytosis_Homo sapiens_hsa041440.92054318
75RNA degradation_Homo sapiens_hsa030180.90825192
76Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.90624107
77Arachidonic acid metabolism_Homo sapiens_hsa005900.90289159
78One carbon pool by folate_Homo sapiens_hsa006700.88157694
79Non-small cell lung cancer_Homo sapiens_hsa052230.87845128
80Antigen processing and presentation_Homo sapiens_hsa046120.87428262
81Cyanoamino acid metabolism_Homo sapiens_hsa004600.87174240
82Steroid hormone biosynthesis_Homo sapiens_hsa001400.86025309
83Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.84490021
84Carbohydrate digestion and absorption_Homo sapiens_hsa049730.84255127
85beta-Alanine metabolism_Homo sapiens_hsa004100.83545430
86Retinol metabolism_Homo sapiens_hsa008300.83219487
87Acute myeloid leukemia_Homo sapiens_hsa052210.83095019
88Bile secretion_Homo sapiens_hsa049760.82954319
89Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.82931939
90Lysine degradation_Homo sapiens_hsa003100.82670877
91Glutamatergic synapse_Homo sapiens_hsa047240.82054421
92Proteasome_Homo sapiens_hsa030500.80231314
93Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.80155815
94Viral carcinogenesis_Homo sapiens_hsa052030.79525460
95Base excision repair_Homo sapiens_hsa034100.79214909
96Serotonergic synapse_Homo sapiens_hsa047260.78865678
97Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.77999280
98AMPK signaling pathway_Homo sapiens_hsa041520.77984242
99Regulation of autophagy_Homo sapiens_hsa041400.77501453
100Fatty acid biosynthesis_Homo sapiens_hsa000610.76796843
101Collecting duct acid secretion_Homo sapiens_hsa049660.75453617
102Leukocyte transendothelial migration_Homo sapiens_hsa046700.75416195
103Ovarian steroidogenesis_Homo sapiens_hsa049130.74907808
104Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.74648567
105Gap junction_Homo sapiens_hsa045400.72548845
106Longevity regulating pathway - mammal_Homo sapiens_hsa042110.72383455
107Colorectal cancer_Homo sapiens_hsa052100.71601680
108Histidine metabolism_Homo sapiens_hsa003400.71567055
109Sulfur metabolism_Homo sapiens_hsa009200.70549830
110Apoptosis_Homo sapiens_hsa042100.70297560
111ABC transporters_Homo sapiens_hsa020100.70276766
112Fat digestion and absorption_Homo sapiens_hsa049750.70025381
113Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.68937191
114Aldosterone synthesis and secretion_Homo sapiens_hsa049250.68577798
115Glycerolipid metabolism_Homo sapiens_hsa005610.67693631
116Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.67572140
117Lysosome_Homo sapiens_hsa041420.67120841
118Purine metabolism_Homo sapiens_hsa002300.65579140
119Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.65179177
120Metabolic pathways_Homo sapiens_hsa011000.64168843
121Steroid biosynthesis_Homo sapiens_hsa001000.63899075
122Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.63342437
123Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.62824897
124Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.62073565
125Mineral absorption_Homo sapiens_hsa049780.61380768
126Vitamin digestion and absorption_Homo sapiens_hsa049770.60794103
127Osteoclast differentiation_Homo sapiens_hsa043800.60391944
128Calcium signaling pathway_Homo sapiens_hsa040200.60113697
129HIF-1 signaling pathway_Homo sapiens_hsa040660.59879629
130Hedgehog signaling pathway_Homo sapiens_hsa043400.58743302
131Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.58004594
132N-Glycan biosynthesis_Homo sapiens_hsa005100.57567859
133Hepatitis B_Homo sapiens_hsa051610.57235009
134AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.57118800
135Insulin signaling pathway_Homo sapiens_hsa049100.57040619
136DNA replication_Homo sapiens_hsa030300.56930685
137Renal cell carcinoma_Homo sapiens_hsa052110.56368378
138PPAR signaling pathway_Homo sapiens_hsa033200.54979041
139Salivary secretion_Homo sapiens_hsa049700.54583543
140Insulin resistance_Homo sapiens_hsa049310.53562503
141Glioma_Homo sapiens_hsa052140.53420699
142Leishmaniasis_Homo sapiens_hsa051400.53029754
143GABAergic synapse_Homo sapiens_hsa047270.52840663
144Asthma_Homo sapiens_hsa053100.52285992
145Proteoglycans in cancer_Homo sapiens_hsa052050.52232441
146Basal cell carcinoma_Homo sapiens_hsa052170.51611323
147Oxytocin signaling pathway_Homo sapiens_hsa049210.51004303
148Legionellosis_Homo sapiens_hsa051340.50882814
149Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.50207712
150Cholinergic synapse_Homo sapiens_hsa047250.49993464
151Pentose and glucuronate interconversions_Homo sapiens_hsa000400.49266010
152Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.48566174
153Estrogen signaling pathway_Homo sapiens_hsa049150.48093124
154Endometrial cancer_Homo sapiens_hsa052130.47908541
155Circadian entrainment_Homo sapiens_hsa047130.47887016
156HTLV-I infection_Homo sapiens_hsa051660.47065151
157Renin secretion_Homo sapiens_hsa049240.46837123
158Notch signaling pathway_Homo sapiens_hsa043300.46626395
159Spliceosome_Homo sapiens_hsa030400.46235625
160Propanoate metabolism_Homo sapiens_hsa006400.46229838
161Pyrimidine metabolism_Homo sapiens_hsa002400.46088679
162Circadian rhythm_Homo sapiens_hsa047100.44492442
163Type I diabetes mellitus_Homo sapiens_hsa049400.44263581
164Chemokine signaling pathway_Homo sapiens_hsa040620.43712394
165Galactose metabolism_Homo sapiens_hsa000520.42892747
166Dopaminergic synapse_Homo sapiens_hsa047280.42575688
167Glucagon signaling pathway_Homo sapiens_hsa049220.42077796
168RNA transport_Homo sapiens_hsa030130.42046711
169Cocaine addiction_Homo sapiens_hsa050300.39874443
170Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.38801596
171Vascular smooth muscle contraction_Homo sapiens_hsa042700.35547959
172Glycerophospholipid metabolism_Homo sapiens_hsa005640.33011484
173Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.31734293
174cAMP signaling pathway_Homo sapiens_hsa040240.28028215
175Amphetamine addiction_Homo sapiens_hsa050310.26051546
176Dorso-ventral axis formation_Homo sapiens_hsa043200.25992520
177Nucleotide excision repair_Homo sapiens_hsa034200.23802862
178Arginine and proline metabolism_Homo sapiens_hsa003300.21465337

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