CHRNA5

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: The protein encoded by this gene is a nicotinic acetylcholine receptor subunit and a member of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. These receptors are thought to be heteropentamers composed of separate but similar subunits. Defects in this gene have been linked to susceptibility to lung cancer type 2 (LNCR2). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1neuron cell-cell adhesion (GO:0007158)4.54512268
2startle response (GO:0001964)4.52101807
3dopamine transport (GO:0015872)4.07911322
4DNA replication checkpoint (GO:0000076)4.00275895
5regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.98135079
6vocalization behavior (GO:0071625)3.95723746
7chromatin remodeling at centromere (GO:0031055)3.91840688
8retinal cone cell development (GO:0046549)3.88445699
9regulation of gene silencing by RNA (GO:0060966)3.79720997
10regulation of posttranscriptional gene silencing (GO:0060147)3.79720997
11regulation of gene silencing by miRNA (GO:0060964)3.79720997
12regulation of short-term neuronal synaptic plasticity (GO:0048172)3.78557800
13CENP-A containing nucleosome assembly (GO:0034080)3.76022305
14establishment of protein localization to mitochondrial membrane (GO:0090151)3.74849232
15regulation of dendritic cell antigen processing and presentation (GO:0002604)3.65468126
16presynaptic membrane assembly (GO:0097105)3.65314628
17negative regulation of synaptic transmission, GABAergic (GO:0032229)3.64118376
18detection of bacterium (GO:0016045)3.63796720
19mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.60943184
20DNA strand elongation involved in DNA replication (GO:0006271)3.56813646
21detection of other organism (GO:0098543)3.55871106
22pseudouridine synthesis (GO:0001522)3.54905358
23catecholamine transport (GO:0051937)3.50247031
24neuron-neuron synaptic transmission (GO:0007270)3.48928927
25maturation of SSU-rRNA (GO:0030490)3.48349107
26regulation of synapse maturation (GO:0090128)3.48197595
27energy coupled proton transport, down electrochemical gradient (GO:0015985)3.47048142
28ATP synthesis coupled proton transport (GO:0015986)3.47048142
29ionotropic glutamate receptor signaling pathway (GO:0035235)3.45276460
30DNA strand elongation (GO:0022616)3.44953950
31telomere maintenance via semi-conservative replication (GO:0032201)3.44668767
32protein localization to synapse (GO:0035418)3.42402174
33presynaptic membrane organization (GO:0097090)3.34002230
34regulation of mitotic spindle checkpoint (GO:1903504)3.33140754
35regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.33140754
36DNA replication-dependent nucleosome organization (GO:0034723)3.31716718
37DNA replication-dependent nucleosome assembly (GO:0006335)3.31716718
38synaptic transmission, glutamatergic (GO:0035249)3.28987943
39serotonin receptor signaling pathway (GO:0007210)3.27460178
40DNA damage response, detection of DNA damage (GO:0042769)3.27189407
41regulation of activation of Janus kinase activity (GO:0010533)3.22176704
42glutamate receptor signaling pathway (GO:0007215)3.20968303
43tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.19842061
44RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.19842061
45histone exchange (GO:0043486)3.18351133
46replication fork processing (GO:0031297)3.17660490
47regulation of nuclear cell cycle DNA replication (GO:0033262)3.15257655
48somatic hypermutation of immunoglobulin genes (GO:0016446)3.15216361
49somatic diversification of immune receptors via somatic mutation (GO:0002566)3.15216361
50ribosomal small subunit biogenesis (GO:0042274)3.13259005
51protein K6-linked ubiquitination (GO:0085020)3.12951310
52positive regulation of cardiac muscle cell differentiation (GO:2000727)3.12435446
53positive regulation of monocyte chemotaxis (GO:0090026)3.12215421
54mitochondrial respiratory chain complex I assembly (GO:0032981)3.11157970
55NADH dehydrogenase complex assembly (GO:0010257)3.11157970
56mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.11157970
57cell wall macromolecule catabolic process (GO:0016998)3.10605664
58cell wall macromolecule metabolic process (GO:0044036)3.10605664
59multicellular organism reproduction (GO:0032504)3.09682175
60response to histamine (GO:0034776)3.09316956
61regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.07143066
62synaptic vesicle exocytosis (GO:0016079)3.06763964
63mitochondrial respiratory chain complex assembly (GO:0033108)3.05593667
64mitochondrial RNA metabolic process (GO:0000959)3.04101088
65protein complex biogenesis (GO:0070271)3.01542513
66transcription elongation from RNA polymerase III promoter (GO:0006385)3.01288700
67termination of RNA polymerase III transcription (GO:0006386)3.01288700
68regulation of synaptic vesicle exocytosis (GO:2000300)3.00767304
69telomere maintenance via recombination (GO:0000722)3.00651142
70regulation of centriole replication (GO:0046599)2.98236688
71microtubule depolymerization (GO:0007019)2.97759223
72gamma-aminobutyric acid signaling pathway (GO:0007214)2.96985972
73dopamine biosynthetic process (GO:0042416)2.96765540
74positive regulation of synapse maturation (GO:0090129)2.94689876
75maturation of 5.8S rRNA (GO:0000460)2.94397484
76neuron recognition (GO:0008038)2.94192241
77regulation of glutamate receptor signaling pathway (GO:1900449)2.91797713
78neurotransmitter secretion (GO:0007269)2.90969287
79kinetochore organization (GO:0051383)2.90625459
80glutamate secretion (GO:0014047)2.90328894
81motile cilium assembly (GO:0044458)2.89568991
82regulation of synaptic vesicle transport (GO:1902803)2.89530643
83nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.89398804
84exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.89200217
85spliceosomal snRNP assembly (GO:0000387)2.89074192
86nucleotide-excision repair, DNA gap filling (GO:0006297)2.88741754
87DNA replication-independent nucleosome assembly (GO:0006336)2.85521925
88DNA replication-independent nucleosome organization (GO:0034724)2.85521925
89regulation of mitochondrial translation (GO:0070129)2.84873266
90cAMP catabolic process (GO:0006198)2.84374825
91peptidyl-histidine modification (GO:0018202)2.84362208
92cellular response to ammonium ion (GO:0071242)2.83883936
93recombinational repair (GO:0000725)2.83488321
94long-term synaptic potentiation (GO:0060291)2.83254477
95cerebral cortex radially oriented cell migration (GO:0021799)2.82956238
96mitotic recombination (GO:0006312)2.82008776
97axonal fasciculation (GO:0007413)2.81939144
98protein localization to kinetochore (GO:0034501)2.80990327
99double-strand break repair via homologous recombination (GO:0000724)2.80819087
100kinetochore assembly (GO:0051382)2.79356304
101regulation of centrosome cycle (GO:0046605)2.77694441
102regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.76514549
103DNA replication initiation (GO:0006270)2.76275205
104dentate gyrus development (GO:0021542)2.75950877
105synaptic transmission, dopaminergic (GO:0001963)2.75575163
106tRNA processing (GO:0008033)2.75402495
107rRNA processing (GO:0006364)2.74948348
108meiotic chromosome segregation (GO:0045132)2.74627004
109negative regulation of dendrite morphogenesis (GO:0050774)2.74573436
110DNA double-strand break processing (GO:0000729)2.74483313
111water-soluble vitamin biosynthetic process (GO:0042364)2.74071630
112regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.74008336
113synaptic vesicle docking involved in exocytosis (GO:0016081)2.73193399
114rRNA metabolic process (GO:0016072)2.72709353
115regulation of cellular extravasation (GO:0002691)2.72376410
116neurotransmitter transport (GO:0006836)2.71819359
117negative regulation of mast cell activation (GO:0033004)2.71690317
118GTP biosynthetic process (GO:0006183)2.71135728
119detection of light stimulus involved in sensory perception (GO:0050962)2.71062801
120detection of light stimulus involved in visual perception (GO:0050908)2.71062801
121synaptic vesicle endocytosis (GO:0048488)2.70702326
122positive regulation of cell cycle G2/M phase transition (GO:1902751)2.68429755
123positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)2.68429755
124mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.67797089
125exploration behavior (GO:0035640)2.67768079
126ribosome biogenesis (GO:0042254)2.67730673
127G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.67327742
128protein neddylation (GO:0045116)2.67272448
129ribonucleoprotein complex biogenesis (GO:0022613)2.67143982
130respiratory chain complex IV assembly (GO:0008535)2.67033198
131UTP biosynthetic process (GO:0006228)2.66600603
132negative regulation of neurotransmitter transport (GO:0051589)2.66596148
133transferrin transport (GO:0033572)2.65665332
134maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.64721507
135proteasome assembly (GO:0043248)2.64025421
136cellular component biogenesis (GO:0044085)2.61993270
137cilium or flagellum-dependent cell motility (GO:0001539)2.61487970
138regulation of neurotransmitter secretion (GO:0046928)2.61335480
139extracellular regulation of signal transduction (GO:1900115)2.61314628
140extracellular negative regulation of signal transduction (GO:1900116)2.61314628
141telomere maintenance via telomere lengthening (GO:0010833)2.60508877
142regulation of rhodopsin mediated signaling pathway (GO:0022400)2.59698699
143neurotransmitter-gated ion channel clustering (GO:0072578)2.58827010
144postsynaptic membrane organization (GO:0001941)2.58425806
145DNA deamination (GO:0045006)2.57171769
146protein localization to chromosome, centromeric region (GO:0071459)2.56434669
147negative regulation of DNA-dependent DNA replication (GO:2000104)2.56194004
148glycosphingolipid biosynthetic process (GO:0006688)2.55852697
149synapsis (GO:0007129)2.55450732
150phagosome maturation (GO:0090382)2.55146895
151* behavioral response to nicotine (GO:0035095)2.54991757
152regulation of Rac GTPase activity (GO:0032314)2.54053095
153translational termination (GO:0006415)2.53722574
154rRNA catabolic process (GO:0016075)2.53594187
155positive regulation of excitatory postsynaptic membrane potential (GO:2000463)2.53175475
156mitotic sister chromatid segregation (GO:0000070)2.52610244
157superoxide anion generation (GO:0042554)2.52566481
158tRNA modification (GO:0006400)2.52179549
159acrosome reaction (GO:0007340)2.51647140
160response to cocaine (GO:0042220)2.51001023
161behavioral defense response (GO:0002209)2.50746354
162behavioral fear response (GO:0001662)2.50746354
163proline transport (GO:0015824)2.50715598
164ncRNA processing (GO:0034470)2.50678987
165negative regulation of dendrite development (GO:2000171)2.50411838
166pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)2.50206851
167ncRNA metabolic process (GO:0034660)2.50155984
168response to amphetamine (GO:0001975)2.49911905
169fear response (GO:0042596)2.49518253
170synapse assembly (GO:0007416)2.49227342
171UTP metabolic process (GO:0046051)2.49209665
172ubiquinone biosynthetic process (GO:0006744)2.49203146
173translesion synthesis (GO:0019985)2.48713763
174nucleobase biosynthetic process (GO:0046112)2.48514227
175cyclic nucleotide catabolic process (GO:0009214)2.48441001
176calcium ion-dependent exocytosis (GO:0017156)2.48337351
177regulation of dopamine secretion (GO:0014059)2.48298382
178ribosomal small subunit assembly (GO:0000028)2.48267560
179positive regulation of neurotransmitter transport (GO:0051590)2.48104698
180regulation of excitatory postsynaptic membrane potential (GO:0060079)2.47510754
181eosinophil chemotaxis (GO:0048245)2.47395010
182protein localization to cilium (GO:0061512)2.47318410
183protein-cofactor linkage (GO:0018065)2.47192752
184electron transport chain (GO:0022900)2.47051791
185postreplication repair (GO:0006301)2.46777792
186chaperone-mediated protein transport (GO:0072321)2.46583384
187positive regulation of synapse assembly (GO:0051965)2.46529882
188transcription-coupled nucleotide-excision repair (GO:0006283)2.46377098
189intracellular protein transmembrane import (GO:0044743)2.46260945
190eye photoreceptor cell development (GO:0042462)2.46143215
191tRNA metabolic process (GO:0006399)2.45646166
192positive regulation of neurotransmitter secretion (GO:0001956)2.45442212
193positive regulation of antigen processing and presentation (GO:0002579)2.44730630
194righting reflex (GO:0060013)2.44125566
195ferric iron transport (GO:0015682)2.43628313
196trivalent inorganic cation transport (GO:0072512)2.43628313
197inner ear receptor stereocilium organization (GO:0060122)2.41765497
198regulation of long-term neuronal synaptic plasticity (GO:0048169)2.41501494
199catecholamine biosynthetic process (GO:0042423)2.41067930

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human6.15131634
2GBX2_23144817_ChIP-Seq_PC3_Human4.29715908
3KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.23913236
4EZH2_22144423_ChIP-Seq_EOC_Human4.19828567
5GABP_17652178_ChIP-ChIP_JURKAT_Human3.64453845
6E2F4_17652178_ChIP-ChIP_JURKAT_Human3.47441240
7TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.41396918
8EST1_17652178_ChIP-ChIP_JURKAT_Human3.31033717
9MYC_18555785_ChIP-Seq_MESCs_Mouse3.19456954
10MYCN_21190229_ChIP-Seq_SHEP-21N_Human3.16494826
11HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.09202921
12BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse3.00846402
13ZFP57_27257070_Chip-Seq_ESCs_Mouse2.92700832
14JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.88670321
15ETS1_20019798_ChIP-Seq_JURKAT_Human2.82423222
16FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.69255872
17E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.68665796
18GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.68350733
19ZNF274_21170338_ChIP-Seq_K562_Hela2.68109539
20GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.67274313
21CREB1_15753290_ChIP-ChIP_HEK293T_Human2.61431578
22FOXM1_23109430_ChIP-Seq_U2OS_Human2.55850193
23TAF15_26573619_Chip-Seq_HEK293_Human2.53252218
24FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.50149071
25HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.49428969
26PCGF2_27294783_Chip-Seq_ESCs_Mouse2.39232679
27FLI1_27457419_Chip-Seq_LIVER_Mouse2.37386444
28CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.32308465
29MYC_18940864_ChIP-ChIP_HL60_Human2.31940204
30* ELK1_19687146_ChIP-ChIP_HELA_Human2.28284479
31POU3F2_20337985_ChIP-ChIP_501MEL_Human2.23087655
32SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.12297264
33* SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.11642660
34P300_19829295_ChIP-Seq_ESCs_Human2.10874393
35SMAD_19615063_ChIP-ChIP_OVARY_Human2.10243203
36VDR_23849224_ChIP-Seq_CD4+_Human2.09823334
37MYC_19030024_ChIP-ChIP_MESCs_Mouse2.07190922
38HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.02378004
39CTBP2_25329375_ChIP-Seq_LNCAP_Human2.01964939
40* BMI1_23680149_ChIP-Seq_NPCS_Mouse1.97814911
41SMAD4_21799915_ChIP-Seq_A2780_Human1.97519562
42TTF2_22483619_ChIP-Seq_HELA_Human1.97084725
43MYC_18358816_ChIP-ChIP_MESCs_Mouse1.96499581
44NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.94772967
45XRN2_22483619_ChIP-Seq_HELA_Human1.92170880
46NOTCH1_21737748_ChIP-Seq_TLL_Human1.89898285
47FOXP3_21729870_ChIP-Seq_TREG_Human1.89212565
48* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.87215246
49* FUS_26573619_Chip-Seq_HEK293_Human1.85135995
50TP63_19390658_ChIP-ChIP_HaCaT_Human1.83700144
51DCP1A_22483619_ChIP-Seq_HELA_Human1.82497806
52IGF1R_20145208_ChIP-Seq_DFB_Human1.82483923
53CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.82261345
54CBX2_27304074_Chip-Seq_ESCs_Mouse1.82177104
55THAP11_20581084_ChIP-Seq_MESCs_Mouse1.80904402
56SUZ12_27294783_Chip-Seq_NPCs_Mouse1.80899028
57E2F1_21310950_ChIP-Seq_MCF-7_Human1.79517857
58PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.79292238
59JARID2_20064375_ChIP-Seq_MESCs_Mouse1.79088560
60SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.77760582
61NANOG_18555785_Chip-Seq_ESCs_Mouse1.77115090
62TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.76727056
63SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.73857701
64MYC_19079543_ChIP-ChIP_MESCs_Mouse1.72560807
65CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.71318309
66REST_21632747_ChIP-Seq_MESCs_Mouse1.71152695
67VDR_22108803_ChIP-Seq_LS180_Human1.69424345
68RNF2_27304074_Chip-Seq_NSC_Mouse1.69376063
69NFE2_27457419_Chip-Seq_LIVER_Mouse1.69299209
70EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.67345261
71ER_23166858_ChIP-Seq_MCF-7_Human1.67148857
72PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.66842039
73CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.64631301
74E2F1_18555785_Chip-Seq_ESCs_Mouse1.63732217
75MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.61593711
76GABP_19822575_ChIP-Seq_HepG2_Human1.60951901
77IRF1_19129219_ChIP-ChIP_H3396_Human1.60918720
78EED_16625203_ChIP-ChIP_MESCs_Mouse1.59836423
79TOP2B_26459242_ChIP-Seq_MCF-7_Human1.59809411
80P53_22387025_ChIP-Seq_ESCs_Mouse1.59707950
81YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.58957621
82CTBP1_25329375_ChIP-Seq_LNCAP_Human1.58264780
83SUZ12_18555785_Chip-Seq_ESCs_Mouse1.57831624
84SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.57610917
85MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.56330174
86CMYC_18555785_Chip-Seq_ESCs_Mouse1.56290579
87SALL1_21062744_ChIP-ChIP_HESCs_Human1.55923394
88EZH2_27304074_Chip-Seq_ESCs_Mouse1.54572338
89PCGF2_27294783_Chip-Seq_NPCs_Mouse1.53676254
90KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.53665412
91FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.53648038
92PADI4_21655091_ChIP-ChIP_MCF-7_Human1.52401608
93JARID2_20075857_ChIP-Seq_MESCs_Mouse1.51295944
94NELFA_20434984_ChIP-Seq_ESCs_Mouse1.51106237
95STAT3_18555785_Chip-Seq_ESCs_Mouse1.50458302
96EZH2_27294783_Chip-Seq_NPCs_Mouse1.49230326
97EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.47194398
98PIAS1_25552417_ChIP-Seq_VCAP_Human1.47132415
99AR_25329375_ChIP-Seq_VCAP_Human1.47061175
100SOX2_18555785_Chip-Seq_ESCs_Mouse1.46514802
101* AR_21909140_ChIP-Seq_LNCAP_Human1.46260369
102SRF_21415370_ChIP-Seq_HL-1_Mouse1.46028112
103AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.45456661
104* RNF2_18974828_ChIP-Seq_MESCs_Mouse1.44245372
105* EZH2_18974828_ChIP-Seq_MESCs_Mouse1.44245372
106* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.44078827
107EWS_26573619_Chip-Seq_HEK293_Human1.43536079
108P300_18555785_Chip-Seq_ESCs_Mouse1.42679047
109E2F1_18555785_ChIP-Seq_MESCs_Mouse1.42068405
110ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.41434111
111NMYC_18555785_Chip-Seq_ESCs_Mouse1.40739391
112PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.40481376
113SMAD3_21741376_ChIP-Seq_EPCs_Human1.40377166
114KDM5A_27292631_Chip-Seq_BREAST_Human1.39833205
115YY1_21170310_ChIP-Seq_MESCs_Mouse1.39278242
116OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.37683680
117POU5F1_16153702_ChIP-ChIP_HESCs_Human1.36894489
118* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.36700237
119STAT3_23295773_ChIP-Seq_U87_Human1.36155402
120TP53_18474530_ChIP-ChIP_U2OS_Human1.36027879
121NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.36025965
122AR_21572438_ChIP-Seq_LNCaP_Human1.35668429
123POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.35132192
124* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.34814017
125KDM2B_26808549_Chip-Seq_REH_Human1.34730667
126RUNX1_27457419_Chip-Seq_LIVER_Mouse1.32231859
127* TCF4_23295773_ChIP-Seq_U87_Human1.31976709
128SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.31064298
129RNF2_27304074_Chip-Seq_ESCs_Mouse1.30286167
130ELF1_17652178_ChIP-ChIP_JURKAT_Human1.28002501
131PU1_27457419_Chip-Seq_LIVER_Mouse1.27381512
132MYCN_18555785_ChIP-Seq_MESCs_Mouse1.26811422
133OCT4_18555785_Chip-Seq_ESCs_Mouse1.26638522
134POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.26058752
135TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.26058752
136TAL1_26923725_Chip-Seq_HPCs_Mouse1.23332061
137TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.22030169
138EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.21882162
139ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.20277044
140* SUZ12_27294783_Chip-Seq_ESCs_Mouse1.20109715
141ZFX_18555785_Chip-Seq_ESCs_Mouse1.19893635
142JUN_21703547_ChIP-Seq_K562_Human1.19774815
143RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.18965587
144KLF4_18555785_Chip-Seq_ESCs_Mouse1.18741383
145SOX2_18555785_ChIP-Seq_MESCs_Mouse1.18671492
146SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.18372958
147TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.18318523
148CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.18197109
149* EZH2_27294783_Chip-Seq_ESCs_Mouse1.18061131
150CDX2_19796622_ChIP-Seq_MESCs_Mouse1.17503268
151SOX2_16153702_ChIP-ChIP_HESCs_Human1.17244421
152SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.16963662
153* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.16293184
154RUNX2_22187159_ChIP-Seq_PCA_Human1.16124928
155ARNT_22903824_ChIP-Seq_MCF-7_Human1.16102144
156CTCF_18555785_Chip-Seq_ESCs_Mouse1.16065990
157TP53_22573176_ChIP-Seq_HFKS_Human1.15282421
158SMAD1_18555785_Chip-Seq_ESCs_Mouse1.15041313
159POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.14045619
160ZNF217_24962896_ChIP-Seq_MCF-7_Human1.12901398
161PRDM14_20953172_ChIP-Seq_ESCs_Human1.12344947
162ESRRB_18555785_Chip-Seq_ESCs_Mouse1.11420519
163NR3C1_21868756_ChIP-Seq_MCF10A_Human1.11155239
164EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.06402863
165HOXB4_20404135_ChIP-ChIP_EML_Mouse1.04336420
166MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.03772675
167RBPJ_22232070_ChIP-Seq_NCS_Mouse1.01186742
168ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.97462395
169MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.97304911
170ESR1_15608294_ChIP-ChIP_MCF-7_Human0.94601152
171NANOG_16153702_ChIP-ChIP_HESCs_Human0.94057027
172GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.80366960
173SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.79869227
174KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.79543577
175FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.79236007
176CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.76026003
177CIITA_25753668_ChIP-Seq_RAJI_Human0.74929970
178CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.74564973
179HOXB7_26014856_ChIP-Seq_BT474_Human0.73010429
180AR_20517297_ChIP-Seq_VCAP_Human0.72763442
181FOXA1_27270436_Chip-Seq_PROSTATE_Human0.69924570
182FOXA1_25329375_ChIP-Seq_VCAP_Human0.69924570

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001188_hyperpigmentation4.63201681
2MP0003880_abnormal_central_pattern4.30367497
3MP0003693_abnormal_embryo_hatching3.47359368
4MP0010094_abnormal_chromosome_stability3.40772956
5MP0004859_abnormal_synaptic_plasticity3.33662998
6MP0002822_catalepsy3.31794390
7MP0003787_abnormal_imprinting2.84134218
8MP0002735_abnormal_chemical_nociception2.81399733
9MP0006276_abnormal_autonomic_nervous2.72695660
10* MP0009745_abnormal_behavioral_response2.66697807
11MP0005171_absent_coat_pigmentation2.65268527
12MP0003635_abnormal_synaptic_transmissio2.63654943
13MP0006292_abnormal_olfactory_placode2.62042323
14MP0002876_abnormal_thyroid_physiology2.57711327
15MP0009046_muscle_twitch2.48774575
16MP0010386_abnormal_urinary_bladder2.40602812
17MP0003111_abnormal_nucleus_morphology2.38922030
18MP0002063_abnormal_learning/memory/cond2.38122941
19MP0004957_abnormal_blastocyst_morpholog2.33266696
20MP0002572_abnormal_emotion/affect_behav2.29478147
21MP0002736_abnormal_nociception_after2.27730941
22MP0003718_maternal_effect2.24635460
23MP0001968_abnormal_touch/_nociception2.21178705
24MP0002163_abnormal_gland_morphology2.15489358
25MP0002638_abnormal_pupillary_reflex2.11989124
26MP0001529_abnormal_vocalization2.10851777
27* MP0002064_seizures2.06623717
28MP0006072_abnormal_retinal_apoptosis2.05612093
29MP0008057_abnormal_DNA_replication2.05353579
30MP0003077_abnormal_cell_cycle2.04578208
31MP0002938_white_spotting2.02647512
32MP0005646_abnormal_pituitary_gland1.97653969
33MP0001905_abnormal_dopamine_level1.95630444
34MP0005551_abnormal_eye_electrophysiolog1.85980932
35MP0002160_abnormal_reproductive_system1.80293265
36MP0009697_abnormal_copulation1.78236977
37MP0002734_abnormal_mechanical_nocicepti1.77604921
38MP0001293_anophthalmia1.75966270
39MP0008932_abnormal_embryonic_tissue1.75548727
40MP0001486_abnormal_startle_reflex1.73765438
41MP0001501_abnormal_sleep_pattern1.73081751
42MP0003136_yellow_coat_color1.70640205
43MP0002272_abnormal_nervous_system1.70203822
44MP0005410_abnormal_fertilization1.68683517
45MP0001440_abnormal_grooming_behavior1.67328351
46MP0000015_abnormal_ear_pigmentation1.66109550
47MP0003315_abnormal_perineum_morphology1.60890734
48MP0004270_analgesia1.59697035
49MP0002067_abnormal_sensory_capabilities1.59695904
50MP0002184_abnormal_innervation1.59384192
51MP0003567_abnormal_fetal_cardiomyocyte1.57292958
52MP0000778_abnormal_nervous_system1.56936891
53MP0008877_abnormal_DNA_methylation1.55135774
54MP0000372_irregular_coat_pigmentation1.52501694
55MP0002557_abnormal_social/conspecific_i1.51265606
56MP0003890_abnormal_embryonic-extraembry1.51207819
57MP0003937_abnormal_limbs/digits/tail_de1.45381274
58MP0002234_abnormal_pharynx_morphology1.43831053
59MP0010030_abnormal_orbit_morphology1.38734103
60MP0005409_darkened_coat_color1.38522167
61MP0002210_abnormal_sex_determination1.37594176
62MP0001502_abnormal_circadian_rhythm1.37083631
63MP0004924_abnormal_behavior1.35194898
64MP0005386_behavior/neurological_phenoty1.35194898
65MP0000427_abnormal_hair_cycle1.34766799
66MP0005389_reproductive_system_phenotype1.34283361
67MP0001919_abnormal_reproductive_system1.34011227
68MP0002132_abnormal_respiratory_system1.30536895
69MP0002653_abnormal_ependyma_morphology1.29419607
70MP0004782_abnormal_surfactant_physiolog1.28447108
71MP0003119_abnormal_digestive_system1.27355238
72MP0008007_abnormal_cellular_replicative1.26352977
73MP0004133_heterotaxia1.26141227
74MP0001177_atelectasis1.22166391
75MP0002837_dystrophic_cardiac_calcinosis1.19885659
76MP0005645_abnormal_hypothalamus_physiol1.19613833
77MP0005248_abnormal_Harderian_gland1.17568329
78MP0000049_abnormal_middle_ear1.17240583
79MP0001929_abnormal_gametogenesis1.17210289
80MP0002102_abnormal_ear_morphology1.16890136
81MP0001984_abnormal_olfaction1.16173453
82MP0001970_abnormal_pain_threshold1.15674323
83MP0003283_abnormal_digestive_organ1.15441480
84MP0005187_abnormal_penis_morphology1.15121943
85MP0000678_abnormal_parathyroid_gland1.12551207
86MP0002277_abnormal_respiratory_mucosa1.11348585
87MP0001286_abnormal_eye_development1.10410931
88MP0002733_abnormal_thermal_nociception1.09564918
89MP0008872_abnormal_physiological_respon1.09282007
90MP0001145_abnormal_male_reproductive1.08282238
91MP0003786_premature_aging1.07978741
92MP0000653_abnormal_sex_gland1.04563072
93MP0002697_abnormal_eye_size1.03595178
94MP0000647_abnormal_sebaceous_gland1.02648772
95MP0004147_increased_porphyrin_level1.01278655
96MP0000516_abnormal_urinary_system1.01009320
97MP0005367_renal/urinary_system_phenotyp1.01009320
98MP0008058_abnormal_DNA_repair0.99328474
99MP0004142_abnormal_muscle_tone0.96114447
100MP0005499_abnormal_olfactory_system0.94601129
101MP0005394_taste/olfaction_phenotype0.94601129
102MP0000537_abnormal_urethra_morphology0.94388011
103MP0005391_vision/eye_phenotype0.93911090
104MP0003941_abnormal_skin_development0.93498790
105MP0003121_genomic_imprinting0.92742866
106MP0000566_synostosis0.92398782
107MP0005084_abnormal_gallbladder_morpholo0.92293881
108MP0004484_altered_response_of0.92017880
109MP0001346_abnormal_lacrimal_gland0.91547508
110MP0003698_abnormal_male_reproductive0.90778219
111MP0002882_abnormal_neuron_morphology0.90501359
112MP0008569_lethality_at_weaning0.88909846
113MP0003950_abnormal_plasma_membrane0.88889996
114MP0005253_abnormal_eye_physiology0.87894537
115MP0000681_abnormal_thyroid_gland0.87837441
116MP0005379_endocrine/exocrine_gland_phen0.87519651
117MP0001485_abnormal_pinna_reflex0.87306210
118MP0004811_abnormal_neuron_physiology0.86698030
119MP0003806_abnormal_nucleotide_metabolis0.86317569
120MP0002127_abnormal_cardiovascular_syste0.85767030
121MP0005195_abnormal_posterior_eye0.85598634
122MP0003122_maternal_imprinting0.84478320
123MP0002233_abnormal_nose_morphology0.84332362
124MP0002084_abnormal_developmental_patter0.83861047
125MP0005423_abnormal_somatic_nervous0.83804086
126MP0008875_abnormal_xenobiotic_pharmacok0.83645074
127MP0002085_abnormal_embryonic_tissue0.83196605
128MP0000631_abnormal_neuroendocrine_gland0.81999084
129MP0000383_abnormal_hair_follicle0.80665625
130MP0005380_embryogenesis_phenotype0.80360640
131MP0001672_abnormal_embryogenesis/_devel0.80360640
132MP0003879_abnormal_hair_cell0.79724128
133MP0001963_abnormal_hearing_physiology0.79500639
134MP0003861_abnormal_nervous_system0.78564743
135MP0002066_abnormal_motor_capabilities/c0.78426920
136MP0002751_abnormal_autonomic_nervous0.77563310
137MP0001697_abnormal_embryo_size0.76986008
138MP0002148_abnormal_hypersensitivity_rea0.76908732
139MP0010307_abnormal_tumor_latency0.76367503
140MP0002752_abnormal_somatic_nervous0.76006283
141MP0001119_abnormal_female_reproductive0.75614077
142MP0004885_abnormal_endolymph0.75062406
143MP0000350_abnormal_cell_proliferation0.74953367
144MP0003755_abnormal_palate_morphology0.74601693
145MP0009379_abnormal_foot_pigmentation0.74151994
146MP0003938_abnormal_ear_development0.74138904
147MP0000026_abnormal_inner_ear0.73594196
148MP0008789_abnormal_olfactory_epithelium0.73134227
149MP0004742_abnormal_vestibular_system0.72901785
150MP0000538_abnormal_urinary_bladder0.72822153
151MP0005671_abnormal_response_to0.68155309
152MP0004510_myositis0.66638056
153MP0009278_abnormal_bone_marrow0.66418512
154MP0002152_abnormal_brain_morphology0.65536265
155MP0008995_early_reproductive_senescence0.64971871
156MP0005310_abnormal_salivary_gland0.64591334
157MP0005535_abnormal_body_temperature0.64390412
158MP0000955_abnormal_spinal_cord0.63757547
159MP0002009_preneoplasia0.60027985
160MP0003631_nervous_system_phenotype0.59663200

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.12418772
2Febrile seizures (HP:0002373)5.84054579
3Epileptic encephalopathy (HP:0200134)4.50396096
4Hyperventilation (HP:0002883)4.32233714
5Hypothermia (HP:0002045)3.97431408
6Atonic seizures (HP:0010819)3.80003216
7Limb dystonia (HP:0002451)3.64687517
8Dyschromatopsia (HP:0007641)3.48981719
9Neonatal hypoglycemia (HP:0001998)3.32747602
10Abnormal hair whorl (HP:0010721)3.30203027
11Focal seizures (HP:0007359)3.21611259
12Birth length less than 3rd percentile (HP:0003561)3.19107159
13Medial flaring of the eyebrow (HP:0010747)2.99184307
14Increased hepatocellular lipid droplets (HP:0006565)2.98866560
15Chromosomal breakage induced by crosslinking agents (HP:0003221)2.97360434
16Gait imbalance (HP:0002141)2.97243101
17Aplasia/Hypoplasia of the uvula (HP:0010293)2.96672334
18Type II lissencephaly (HP:0007260)2.95768933
19Pancreatic cysts (HP:0001737)2.95321793
20Lipid accumulation in hepatocytes (HP:0006561)2.90978725
21Fair hair (HP:0002286)2.89673525
22Meckel diverticulum (HP:0002245)2.84896252
23Acute necrotizing encephalopathy (HP:0006965)2.81470576
24Dynein arm defect of respiratory motile cilia (HP:0012255)2.79778109
25Absent/shortened dynein arms (HP:0200106)2.79778109
26Congenital primary aphakia (HP:0007707)2.79704443
27Nephrogenic diabetes insipidus (HP:0009806)2.78338878
28Congenital stationary night blindness (HP:0007642)2.77986177
29Progressive cerebellar ataxia (HP:0002073)2.77963870
30Abnormality of the ileum (HP:0001549)2.77749566
31Absence seizures (HP:0002121)2.73518999
32Retrobulbar optic neuritis (HP:0100654)2.71938684
33Optic neuritis (HP:0100653)2.71938684
34Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.71125786
35Alveolar cell carcinoma (HP:0006519)2.68692098
36Increased CSF lactate (HP:0002490)2.62702661
37Acute encephalopathy (HP:0006846)2.60571061
38Absent speech (HP:0001344)2.57675311
39Mitochondrial inheritance (HP:0001427)2.56271878
40Dialeptic seizures (HP:0011146)2.54718098
41Abnormal number of erythroid precursors (HP:0012131)2.52577873
42Abnormal mitochondria in muscle tissue (HP:0008316)2.52004438
43Septo-optic dysplasia (HP:0100842)2.49649793
44Chromsome breakage (HP:0040012)2.49298062
45Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.48249928
46Abnormality of alanine metabolism (HP:0010916)2.48249928
47Hyperalaninemia (HP:0003348)2.48249928
48Reticulocytopenia (HP:0001896)2.47245568
49Optic nerve hypoplasia (HP:0000609)2.46924516
50Generalized hypopigmentation of hair (HP:0011358)2.44655350
51Congenital, generalized hypertrichosis (HP:0004540)2.42069734
52Abnormality of the preputium (HP:0100587)2.39938345
53Abnormality of chromosome stability (HP:0003220)2.39466741
54Genital tract atresia (HP:0001827)2.38439688
55Abnormal ciliary motility (HP:0012262)2.38435608
56Generalized tonic-clonic seizures (HP:0002069)2.37920250
57Abnormality of cells of the erythroid lineage (HP:0012130)2.36779265
58Absent thumb (HP:0009777)2.33604032
593-Methylglutaconic aciduria (HP:0003535)2.33411744
60Colon cancer (HP:0003003)2.32627382
61Protruding tongue (HP:0010808)2.32091604
62Papillary thyroid carcinoma (HP:0002895)2.30370864
63Oligodactyly (hands) (HP:0001180)2.30147204
64Thyroid carcinoma (HP:0002890)2.28715301
65Poor coordination (HP:0002370)2.28516974
66Vaginal atresia (HP:0000148)2.27796147
67Decreased central vision (HP:0007663)2.25502515
68Neoplasm of the tracheobronchial system (HP:0100552)2.25041124
69Bilateral microphthalmos (HP:0007633)2.24240543
70Abnormal respiratory epithelium morphology (HP:0012253)2.24220571
71Abnormal respiratory motile cilium morphology (HP:0005938)2.24220571
72Patellar aplasia (HP:0006443)2.23284546
73Abnormality of the carotid arteries (HP:0005344)2.23195879
74Inability to walk (HP:0002540)2.22584745
75Retinal dysplasia (HP:0007973)2.22026017
76True hermaphroditism (HP:0010459)2.21966948
77Amblyopia (HP:0000646)2.21704198
78Increased serum lactate (HP:0002151)2.21391549
79Progressive macrocephaly (HP:0004481)2.21334583
80Aplasia/Hypoplasia of the patella (HP:0006498)2.19853589
81Broad-based gait (HP:0002136)2.19694990
82Central scotoma (HP:0000603)2.18618932
83Hypoplasia of the pons (HP:0012110)2.18175197
84Triphalangeal thumb (HP:0001199)2.18082535
85Pancreatic fibrosis (HP:0100732)2.16816422
86Concave nail (HP:0001598)2.15694833
87Ectopic kidney (HP:0000086)2.15641538
88Abnormality of the labia minora (HP:0012880)2.15375170
89Abnormality of the pons (HP:0007361)2.15089994
90Renal Fanconi syndrome (HP:0001994)2.13513196
91Aplasia/Hypoplasia of the tibia (HP:0005772)2.12214149
92Sclerocornea (HP:0000647)2.11331828
93Horseshoe kidney (HP:0000085)2.10319890
94Gaze-evoked nystagmus (HP:0000640)2.09817789
95Abnormal respiratory motile cilium physiology (HP:0012261)2.09312707
96Blue irides (HP:0000635)2.08562132
97Cerebellar dysplasia (HP:0007033)2.06081304
98Abnormality of macular pigmentation (HP:0008002)2.05653010
99Abnormality of the renal cortex (HP:0011035)2.05286657
100Lissencephaly (HP:0001339)2.05155325
101Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.04120237
102Keratoconjunctivitis (HP:0001096)2.03568128
103Fetal akinesia sequence (HP:0001989)2.02955286
104Severe visual impairment (HP:0001141)2.01312688
105Absent eyebrow (HP:0002223)2.01259476
106Small intestinal stenosis (HP:0012848)2.00964245
107Duodenal stenosis (HP:0100867)2.00964245
108Short tibia (HP:0005736)2.00940900
109Chronic hepatic failure (HP:0100626)1.99303646
110Aplasia/Hypoplasia of the lens (HP:0008063)1.98894209
111Excessive salivation (HP:0003781)1.98509152
112Drooling (HP:0002307)1.98509152
113Sloping forehead (HP:0000340)1.98356579
114Exotropia (HP:0000577)1.98104070
115Type 2 muscle fiber atrophy (HP:0003554)1.96137940
116Short thumb (HP:0009778)1.95621906
117Choroideremia (HP:0001139)1.95242923
118Gastroesophageal reflux (HP:0002020)1.95191225
119Aplasia cutis congenita (HP:0001057)1.94112581
120Abnormal number of incisors (HP:0011064)1.92893049
121Absent radius (HP:0003974)1.92823962
122Abnormality of the duodenum (HP:0002246)1.89941311
123Molar tooth sign on MRI (HP:0002419)1.89681051
124Abnormality of midbrain morphology (HP:0002418)1.89681051
125Thickened helices (HP:0000391)1.89303741
126Type I transferrin isoform profile (HP:0003642)1.88644090
127Anophthalmia (HP:0000528)1.88449153
128Myokymia (HP:0002411)1.87651802
129Nephronophthisis (HP:0000090)1.87513729
130Progressive inability to walk (HP:0002505)1.87278243
131Abnormality of incisor morphology (HP:0011063)1.86748963
132Cerebral edema (HP:0002181)1.85658923
133Absent forearm bone (HP:0003953)1.85505054
134Aplasia involving forearm bones (HP:0009822)1.85505054
135Lactic acidosis (HP:0003128)1.84496534
136Esophageal atresia (HP:0002032)1.83467452
137Hepatocellular necrosis (HP:0001404)1.82818216
138Macrocytic anemia (HP:0001972)1.82736036
139Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.82375661
140Rectal fistula (HP:0100590)1.81909090
141Rectovaginal fistula (HP:0000143)1.81909090
142Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.81849625
143Pendular nystagmus (HP:0012043)1.81154820
144Epileptiform EEG discharges (HP:0011182)1.80716318
145Methylmalonic acidemia (HP:0002912)1.80696539
146Prostate neoplasm (HP:0100787)1.80607721
147Anencephaly (HP:0002323)1.78476948
148Hypoplasia of the radius (HP:0002984)1.77794537
149Preaxial hand polydactyly (HP:0001177)1.77697337
150Abnormal protein glycosylation (HP:0012346)1.77561227
151Abnormal glycosylation (HP:0012345)1.77561227
152Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.77561227
153Abnormal protein N-linked glycosylation (HP:0012347)1.77561227
154Pachygyria (HP:0001302)1.77221824
155Esotropia (HP:0000565)1.76970280
156Abnormality of the renal medulla (HP:0100957)1.76603957
157Partial agenesis of the corpus callosum (HP:0001338)1.75775927
158Cortical dysplasia (HP:0002539)1.75701101
159Aplasia/Hypoplasia of the tongue (HP:0010295)1.75299046
160Keratoconjunctivitis sicca (HP:0001097)1.75267673
161Stomach cancer (HP:0012126)1.74654567
162Clubbing of toes (HP:0100760)1.73714846
163Abnormality of binocular vision (HP:0011514)1.73091799
164Diplopia (HP:0000651)1.73091799
165Abnormal lung lobation (HP:0002101)1.72014541
166Dandy-Walker malformation (HP:0001305)1.71841684
167Pigmentary retinal degeneration (HP:0001146)1.71645017
168Optic disc pallor (HP:0000543)1.70354625
169Gastrointestinal atresia (HP:0002589)1.70040652
170Supernumerary spleens (HP:0009799)1.69291829
171Increased intramyocellular lipid droplets (HP:0012240)1.68738899
172Tubulointerstitial nephritis (HP:0001970)1.68572989
173Microretrognathia (HP:0000308)1.67052709
174Flat capital femoral epiphysis (HP:0003370)1.66910119
175Chorioretinal atrophy (HP:0000533)1.64679271
176Hepatic necrosis (HP:0002605)1.64325186
177Chorioretinal coloboma (HP:0000567)1.63174838
178Orchitis (HP:0100796)1.62979884
179Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.62977536
180Decreased activity of mitochondrial respiratory chain (HP:0008972)1.62977536
181Widely spaced teeth (HP:0000687)1.62835064
182Intestinal fistula (HP:0100819)1.62758971
183Absent septum pellucidum (HP:0001331)1.60802027
184Abnormality of salivation (HP:0100755)1.60565122
185Photophobia (HP:0000613)1.59593695
186Autoamputation (HP:0001218)1.59302620
187Recurrent cutaneous fungal infections (HP:0011370)1.58011448

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK4.25354348
2MAP2K73.79382581
3BMPR23.67000266
4CDC73.45444371
5TAF13.24750257
6BUB13.19614009
7MAP3K122.95397307
8TLK12.73620415
9SRPK12.57259721
10EPHA42.55816912
11PLK22.55433946
12AKT32.49979912
13INSRR2.49330746
14NTRK32.38540692
15VRK22.36738677
16MAP3K42.36184988
17PBK2.27507609
18WEE12.12456242
19SIK32.08637332
20NEK12.07993252
21PRPF4B2.02165260
22ZAK1.97855131
23MAP3K141.94989744
24RIPK41.89587927
25MARK11.79143708
26TXK1.73943567
27ERBB31.72871985
28TSSK61.68192314
29SGK21.65224220
30YES11.53964206
31GRK11.51243457
32MAPK131.45539420
33TRIM281.45164514
34PLK11.44280449
35MAP4K21.41138230
36BMPR1B1.37943553
37PTK2B1.36043065
38EIF2AK31.32459674
39WNK31.32450741
40SGK4941.32024447
41SGK2231.32024447
42ATR1.29670843
43WNK41.28560124
44EPHA31.28456135
45MKNK21.27767679
46MINK11.25230157
47MST41.22937875
48BCR1.19082099
49NEK21.15689116
50AURKB1.15573778
51EIF2AK11.13498259
52GRK51.13462409
53PNCK1.11169959
54CCNB11.09799091
55PLK31.07098843
56BRSK21.06722517
57AURKA1.05084423
58PRKCE1.03012057
59STK160.97626466
60PINK10.96301418
61CAMK2A0.95822900
62EIF2AK20.95778174
63GRK70.95301258
64PRKCG0.94044013
65CDK80.92417231
66DYRK30.91870747
67CSNK1G10.89971690
68NTRK20.88868899
69SGK30.88440003
70RPS6KA40.87263998
71FRK0.87001711
72RPS6KA50.85408069
73TNIK0.84205168
74MAP2K40.83488411
75TAOK20.83112109
76CDK70.82910947
77PKN10.82004346
78STK390.79266076
79DAPK20.77579210
80BCKDK0.77510218
81PDK20.77074426
82CHEK10.76987103
83ATM0.75997076
84BRAF0.73600741
85NME20.73525701
86ADRBK20.73013243
87PASK0.71697064
88ACVR1B0.70853639
89STK38L0.70075181
90CSNK1A1L0.69859875
91NEK60.67847518
92PDK40.67108539
93PDK30.67108539
94CHUK0.66705567
95CSNK1E0.66646889
96DAPK10.66538644
97NLK0.66137533
98BRSK10.66029129
99DYRK1A0.64893120
100CDK30.63554221
101MAP3K130.63160036
102SGK10.62903103
103MYLK0.62879594
104PRKCI0.62845214
105CDK50.62003203
106MKNK10.61777366
107RPS6KB20.61614392
108OXSR10.59872012
109MAPK70.59686982
110RPS6KB10.59559437
111CSNK2A10.59285354
112CSNK2A20.58593814
113NUAK10.58058539
114STK240.58024079
115CSNK1G20.57599368
116PLK40.57483979
117CAMK2B0.56376062
118STK40.55456856
119ILK0.54831003
120NME10.53876512
121VRK10.53693467
122SIK20.53533789
123TIE10.50637683
124CDK10.49845963
125MAP2K20.48634992
126TGFBR10.47456153
127MAPKAPK50.46243688
128CDK20.46217545
129SYK0.46159004
130MAPKAPK30.45902829
131KSR10.44561089
132STK30.43881559
133CSNK1G30.42424847
134FGR0.42122454
135OBSCN0.41363144
136CAMK1D0.41080478
137LATS20.40344399
138IKBKB0.39497336
139MAPK150.38797897
140CHEK20.38168816
141CSNK1D0.36361827
142CAMK1G0.34985936
143ALK0.34623485
144FES0.33845952
145MET0.33232273
146CDK40.32566369
147PRKACA0.32496293
148PRKDC0.32073744
149DYRK20.31168449
150MAP3K50.30508689
151TTK0.30149124
152WNK10.29776690
153IRAK40.28386418
154IKBKE0.28352996
155NTRK10.28035532
156PRKCB0.27703357
157MAPK80.27426821
158EPHB20.26761865
159PRKG10.25187887
160CSNK1A10.24344291

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.02649732
2DNA replication_Homo sapiens_hsa030303.52161876
3Mismatch repair_Homo sapiens_hsa034303.24258873
4Homologous recombination_Homo sapiens_hsa034403.15267779
5Ribosome_Homo sapiens_hsa030103.12835982
6RNA polymerase_Homo sapiens_hsa030203.05410732
7Synaptic vesicle cycle_Homo sapiens_hsa047212.91736865
8Phototransduction_Homo sapiens_hsa047442.91483227
9Proteasome_Homo sapiens_hsa030502.80244687
10Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.80169139
11Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.47033849
12Parkinsons disease_Homo sapiens_hsa050122.37577070
13Spliceosome_Homo sapiens_hsa030402.36313942
14Collecting duct acid secretion_Homo sapiens_hsa049662.33822040
15Morphine addiction_Homo sapiens_hsa050322.33627720
16Olfactory transduction_Homo sapiens_hsa047402.23103480
17Rheumatoid arthritis_Homo sapiens_hsa053232.15683195
18Serotonergic synapse_Homo sapiens_hsa047262.14676997
19Base excision repair_Homo sapiens_hsa034102.14139203
20Amphetamine addiction_Homo sapiens_hsa050312.12363300
21Nucleotide excision repair_Homo sapiens_hsa034202.11219304
22Pyrimidine metabolism_Homo sapiens_hsa002402.11135573
23Circadian entrainment_Homo sapiens_hsa047132.08450696
24One carbon pool by folate_Homo sapiens_hsa006702.08104380
25RNA transport_Homo sapiens_hsa030132.05738255
26Protein export_Homo sapiens_hsa030602.05291436
27Glutamatergic synapse_Homo sapiens_hsa047242.02282307
28GABAergic synapse_Homo sapiens_hsa047272.00410045
29RNA degradation_Homo sapiens_hsa030181.96201936
30Type I diabetes mellitus_Homo sapiens_hsa049401.94099722
31Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.93104913
32Taste transduction_Homo sapiens_hsa047421.92936387
33* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.89487133
34Selenocompound metabolism_Homo sapiens_hsa004501.88819382
35Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.85892622
36Long-term potentiation_Homo sapiens_hsa047201.83793441
37Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.83296403
38Non-homologous end-joining_Homo sapiens_hsa034501.80603925
39Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.77440216
40Autoimmune thyroid disease_Homo sapiens_hsa053201.74724866
41Graft-versus-host disease_Homo sapiens_hsa053321.70690043
42Dopaminergic synapse_Homo sapiens_hsa047281.69879106
43Allograft rejection_Homo sapiens_hsa053301.63488762
44Cell cycle_Homo sapiens_hsa041101.63435427
45Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.61291329
46Long-term depression_Homo sapiens_hsa047301.60856546
47Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.56130733
48Cholinergic synapse_Homo sapiens_hsa047251.50938583
49Cocaine addiction_Homo sapiens_hsa050301.43431920
50Salivary secretion_Homo sapiens_hsa049701.40912411
51Calcium signaling pathway_Homo sapiens_hsa040201.34573291
52Nitrogen metabolism_Homo sapiens_hsa009101.32670076
53African trypanosomiasis_Homo sapiens_hsa051431.24842617
54Steroid biosynthesis_Homo sapiens_hsa001001.24482043
55Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.23239238
56Renin secretion_Homo sapiens_hsa049241.22505991
57Vibrio cholerae infection_Homo sapiens_hsa051101.21732470
58Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.21165508
59Cysteine and methionine metabolism_Homo sapiens_hsa002701.21139952
60Maturity onset diabetes of the young_Homo sapiens_hsa049501.13266048
61Intestinal immune network for IgA production_Homo sapiens_hsa046721.12976533
62Sulfur relay system_Homo sapiens_hsa041221.10174184
63Butanoate metabolism_Homo sapiens_hsa006501.06296152
64Insulin secretion_Homo sapiens_hsa049111.04057813
65Axon guidance_Homo sapiens_hsa043601.04050930
66Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.03300587
67NOD-like receptor signaling pathway_Homo sapiens_hsa046211.01786720
68Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.98538651
69Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.97435435
70Phosphatidylinositol signaling system_Homo sapiens_hsa040700.97247681
71mRNA surveillance pathway_Homo sapiens_hsa030150.96736597
72Oxytocin signaling pathway_Homo sapiens_hsa049210.96697850
73Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.94113112
74Propanoate metabolism_Homo sapiens_hsa006400.94066645
75Folate biosynthesis_Homo sapiens_hsa007900.93061998
76Fatty acid elongation_Homo sapiens_hsa000620.88462776
77Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.85776241
78Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.85576962
79Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.83589315
80Pyruvate metabolism_Homo sapiens_hsa006200.83458757
81Phagosome_Homo sapiens_hsa041450.82588026
82Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.82120474
83Aldosterone synthesis and secretion_Homo sapiens_hsa049250.80750919
84Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.79025114
85Sulfur metabolism_Homo sapiens_hsa009200.77201732
86cGMP-PKG signaling pathway_Homo sapiens_hsa040220.75443800
87ErbB signaling pathway_Homo sapiens_hsa040120.74963605
88Chemokine signaling pathway_Homo sapiens_hsa040620.74940161
89alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.74065853
90Systemic lupus erythematosus_Homo sapiens_hsa053220.73095728
91Basal cell carcinoma_Homo sapiens_hsa052170.70972090
92Linoleic acid metabolism_Homo sapiens_hsa005910.70425512
93Hedgehog signaling pathway_Homo sapiens_hsa043400.70300287
94Alcoholism_Homo sapiens_hsa050340.70134510
95Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.70118392
96cAMP signaling pathway_Homo sapiens_hsa040240.70099967
97GnRH signaling pathway_Homo sapiens_hsa049120.70049096
98Metabolic pathways_Homo sapiens_hsa011000.70007135
99SNARE interactions in vesicular transport_Homo sapiens_hsa041300.68747440
100Phenylalanine metabolism_Homo sapiens_hsa003600.68577669
101Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.68568349
102Regulation of autophagy_Homo sapiens_hsa041400.68466890
103Fanconi anemia pathway_Homo sapiens_hsa034600.67966419
104Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.67442488
105Vitamin B6 metabolism_Homo sapiens_hsa007500.66937123
106p53 signaling pathway_Homo sapiens_hsa041150.66176849
107Basal transcription factors_Homo sapiens_hsa030220.65562556
108Oxidative phosphorylation_Homo sapiens_hsa001900.65414054
109Tryptophan metabolism_Homo sapiens_hsa003800.64571111
110Gap junction_Homo sapiens_hsa045400.63706921
111Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.63258286
112Toll-like receptor signaling pathway_Homo sapiens_hsa046200.61477388
113TNF signaling pathway_Homo sapiens_hsa046680.58580309
114Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.57825178
115Influenza A_Homo sapiens_hsa051640.57799103
116Melanogenesis_Homo sapiens_hsa049160.53631997
117Peroxisome_Homo sapiens_hsa041460.53444805
118MAPK signaling pathway_Homo sapiens_hsa040100.53291835
119Hippo signaling pathway_Homo sapiens_hsa043900.53163832
120Ovarian steroidogenesis_Homo sapiens_hsa049130.52859758
121Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.52276406
122Vitamin digestion and absorption_Homo sapiens_hsa049770.52044072
123Measles_Homo sapiens_hsa051620.51555632
124Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.50787394
125Inositol phosphate metabolism_Homo sapiens_hsa005620.48839716
126Glutathione metabolism_Homo sapiens_hsa004800.47668996
127Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.47174209
128Vascular smooth muscle contraction_Homo sapiens_hsa042700.45908105
129Shigellosis_Homo sapiens_hsa051310.45907115
130Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.45820565
131Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.45749930
132Wnt signaling pathway_Homo sapiens_hsa043100.45548819
133Alzheimers disease_Homo sapiens_hsa050100.45110684
134Ether lipid metabolism_Homo sapiens_hsa005650.44063550
135Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.43858684
136Cardiac muscle contraction_Homo sapiens_hsa042600.43509452
137Estrogen signaling pathway_Homo sapiens_hsa049150.43064959
138Type II diabetes mellitus_Homo sapiens_hsa049300.42739957
139NF-kappa B signaling pathway_Homo sapiens_hsa040640.42561501
140Oocyte meiosis_Homo sapiens_hsa041140.41491741
141Ras signaling pathway_Homo sapiens_hsa040140.40785473
142Tuberculosis_Homo sapiens_hsa051520.40610313
143Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.40222695
144Gastric acid secretion_Homo sapiens_hsa049710.39284314
145Arginine and proline metabolism_Homo sapiens_hsa003300.39149288
146RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.38845418
147N-Glycan biosynthesis_Homo sapiens_hsa005100.38643162
148T cell receptor signaling pathway_Homo sapiens_hsa046600.38565273
149Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.37454595
150Huntingtons disease_Homo sapiens_hsa050160.36754024
151Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.36653603
152Sphingolipid metabolism_Homo sapiens_hsa006000.35298797
153TGF-beta signaling pathway_Homo sapiens_hsa043500.34315303
154Glioma_Homo sapiens_hsa052140.33590045
155Dilated cardiomyopathy_Homo sapiens_hsa054140.33287155
156Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.33186961
157Melanoma_Homo sapiens_hsa052180.32627930
158Tyrosine metabolism_Homo sapiens_hsa003500.32555184
159FoxO signaling pathway_Homo sapiens_hsa040680.31937846
160Choline metabolism in cancer_Homo sapiens_hsa052310.30140712
161Purine metabolism_Homo sapiens_hsa002300.29852396
162Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.29825286
163Salmonella infection_Homo sapiens_hsa051320.29699673
164Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.29414560
165Biosynthesis of amino acids_Homo sapiens_hsa012300.28852303
166Caffeine metabolism_Homo sapiens_hsa002320.28071805
167Chemical carcinogenesis_Homo sapiens_hsa052040.27191624
168Pentose and glucuronate interconversions_Homo sapiens_hsa000400.26941690
169beta-Alanine metabolism_Homo sapiens_hsa004100.25027654
170Fat digestion and absorption_Homo sapiens_hsa049750.22951161
171Retinol metabolism_Homo sapiens_hsa008300.21622672
172Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.18891168
173Steroid hormone biosynthesis_Homo sapiens_hsa001400.18176014
174Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.17918307
175Fatty acid metabolism_Homo sapiens_hsa012120.17633685
176Epstein-Barr virus infection_Homo sapiens_hsa051690.13583154
177Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.13278072

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