CD46

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 type I membrane protein and is a regulatory part of the complement system. The encoded protein has cofactor activity for inactivation of complement components C3b and C4b by serum factor I, which protects the host cell from damage by complement. In addition, the encoded protein can act as a receptor for the Edmonston strain of measles virus, human herpesvirus-6, and type IV pili of pathogenic Neisseria. Finally, the protein encoded by this gene may be involved in the fusion of the spermatozoa with the oocyte during fertilization. Mutations at this locus have been associated with susceptibility to hemolytic uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.18485073
2ionotropic glutamate receptor signaling pathway (GO:0035235)5.10381750
3vocalization behavior (GO:0071625)4.99254920
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.89070423
5iron ion import (GO:0097286)4.86916167
6glutamate receptor signaling pathway (GO:0007215)4.84942163
7synaptic vesicle exocytosis (GO:0016079)4.61917153
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.60094318
9neuronal action potential propagation (GO:0019227)4.49438549
10neuron cell-cell adhesion (GO:0007158)4.46911458
11antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.45588050
12locomotory exploration behavior (GO:0035641)4.37557823
13synaptic transmission, glutamatergic (GO:0035249)4.35600022
14regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.35489014
15G-protein coupled glutamate receptor signaling pathway (GO:0007216)4.33705693
16detection of molecule of bacterial origin (GO:0032490)4.29891044
17neuron-neuron synaptic transmission (GO:0007270)4.24313550
18regulation of glutamate receptor signaling pathway (GO:1900449)4.23648669
19positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.21154536
20protein localization to synapse (GO:0035418)4.18376889
21glutamate secretion (GO:0014047)4.16625657
22gamma-aminobutyric acid signaling pathway (GO:0007214)4.16060961
23cellular potassium ion homeostasis (GO:0030007)4.06975182
24regulation of synaptic vesicle exocytosis (GO:2000300)4.04454178
25* negative regulation of complement activation (GO:0045916)4.02422272
26neurotransmitter-gated ion channel clustering (GO:0072578)3.97986654
27membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.97782238
28neurotransmitter secretion (GO:0007269)3.91246987
29presynaptic membrane assembly (GO:0097105)3.86858987
30regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.82068641
31* negative regulation of protein activation cascade (GO:2000258)3.79824113
32synaptic vesicle docking involved in exocytosis (GO:0016081)3.79334429
33response to histamine (GO:0034776)3.78056647
34synaptic vesicle maturation (GO:0016188)3.76599672
35long-term memory (GO:0007616)3.75415417
36negative regulation of synaptic transmission, GABAergic (GO:0032229)3.74624743
37regulation of synaptic vesicle transport (GO:1902803)3.72145037
38gamma-aminobutyric acid transport (GO:0015812)3.71613914
39antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.69451071
40regulation of excitatory postsynaptic membrane potential (GO:0060079)3.68911666
41regulation of long-term neuronal synaptic plasticity (GO:0048169)3.65169075
42cerebellar granule cell differentiation (GO:0021707)3.64093561
43startle response (GO:0001964)3.62781814
44production of molecular mediator involved in inflammatory response (GO:0002532)3.59362629
45transmission of nerve impulse (GO:0019226)3.59185336
46regulation of postsynaptic membrane potential (GO:0060078)3.58594630
47cerebellar Purkinje cell differentiation (GO:0021702)3.58104313
48positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.56248903
49long-term synaptic potentiation (GO:0060291)3.56205047
50negative regulation of cell killing (GO:0031342)3.55590485
51negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.55590485
52presynaptic membrane organization (GO:0097090)3.52096706
53regulation of neuronal synaptic plasticity (GO:0048168)3.51920980
54exploration behavior (GO:0035640)3.47645012
55neurotransmitter transport (GO:0006836)3.46126145
56* negative regulation of humoral immune response (GO:0002921)3.44779490
57regulation of synaptic transmission, glutamatergic (GO:0051966)3.44257255
58positive regulation of gamma-delta T cell activation (GO:0046645)3.43949435
59antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.43342663
60COPII vesicle coating (GO:0048208)3.37713982
61synaptic vesicle endocytosis (GO:0048488)3.36254661
62modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.32984507
63modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.32984507
64positive regulation by organism of defense response of other organism involved in symbiotic interact3.32984507
65modulation by symbiont of host immune response (GO:0052553)3.32984507
66positive regulation by symbiont of host defense response (GO:0052509)3.32984507
67modulation by symbiont of host defense response (GO:0052031)3.32984507
68antigen processing and presentation of endogenous antigen (GO:0019883)3.32817558
69membrane depolarization during action potential (GO:0086010)3.30758415
70negative regulation of glycoprotein biosynthetic process (GO:0010561)3.30190760
71positive regulation of membrane potential (GO:0045838)3.28239293
72postsynaptic membrane organization (GO:0001941)3.25896487
73detection of external biotic stimulus (GO:0098581)3.24699566
74macroautophagy (GO:0016236)3.24601169
75neuron recognition (GO:0008038)3.22055457
76regulation of gamma-delta T cell differentiation (GO:0045586)3.20479726
77cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.19493380
78regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.18510286
79positive regulation of synapse maturation (GO:0090129)3.18461671
80behavioral response to cocaine (GO:0048148)3.18276147
81regulation of neurotransmitter levels (GO:0001505)3.17383449
82membrane depolarization (GO:0051899)3.17265740
83regulation of voltage-gated calcium channel activity (GO:1901385)3.16889637
84cellular response to ethanol (GO:0071361)3.16467893
85membrane hyperpolarization (GO:0060081)3.14283765
86regulation of interferon-beta biosynthetic process (GO:0045357)3.12384340
87regulation of synaptic plasticity (GO:0048167)3.12012360
88macrophage activation involved in immune response (GO:0002281)3.11920292
89striatum development (GO:0021756)3.10004836
90behavioral defense response (GO:0002209)3.08837031
91behavioral fear response (GO:0001662)3.08837031
92regulation of gamma-delta T cell activation (GO:0046643)3.08230673
93regulation of neurotransmitter secretion (GO:0046928)3.07993778
94synapse assembly (GO:0007416)3.06670495
95COPI coating of Golgi vesicle (GO:0048205)3.03540370
96Golgi transport vesicle coating (GO:0048200)3.03540370
97cellular extravasation (GO:0045123)3.01455662
98fear response (GO:0042596)3.01371517
99sodium ion export (GO:0071436)3.01020870
100detection of calcium ion (GO:0005513)3.00538754
101regulation of vesicle fusion (GO:0031338)3.00247995
102proline transport (GO:0015824)2.99771027
103regulation of synapse maturation (GO:0090128)2.97796076
104positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.96710676
105learning (GO:0007612)2.95795152
106L-amino acid import (GO:0043092)2.94482837
107axonal fasciculation (GO:0007413)2.94170581
108positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.93593776
109neutrophil activation involved in immune response (GO:0002283)2.93583131
110righting reflex (GO:0060013)2.91363735
111negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.91314845
112regulation of neurotransmitter transport (GO:0051588)2.90588419
113synaptic transmission (GO:0007268)2.90585529
114neuromuscular process controlling posture (GO:0050884)2.90281512
115regulation of synapse structural plasticity (GO:0051823)2.88417306
116cell communication by electrical coupling (GO:0010644)2.88294412
117detection of other organism (GO:0098543)2.87993848
118adult walking behavior (GO:0007628)2.87070068
119regulation of respiratory system process (GO:0044065)2.86801728
120long term synaptic depression (GO:0060292)2.86548730
121auditory behavior (GO:0031223)2.86381669
122regulation of dendritic spine morphogenesis (GO:0061001)2.86366871
123regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.86016109
124regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.85143095
125response to auditory stimulus (GO:0010996)2.83416819
126prepulse inhibition (GO:0060134)2.83002236
127innervation (GO:0060384)2.82891782
128positive regulation of cellular amide metabolic process (GO:0034250)2.82467290
129macrophage activation (GO:0042116)2.81859152
130positive regulation of synaptic transmission (GO:0050806)2.80976957
131potassium ion import (GO:0010107)2.77758758
132surfactant homeostasis (GO:0043129)2.77527032
133positive regulation of neurotransmitter transport (GO:0051590)2.77494163
134mechanosensory behavior (GO:0007638)2.77422231
135retinal cone cell development (GO:0046549)2.76841873
136positive regulation of synapse assembly (GO:0051965)2.75308139
137interleukin-6-mediated signaling pathway (GO:0070102)2.75055093
138cell differentiation in hindbrain (GO:0021533)2.74979342
139* regulation of complement activation (GO:0030449)2.73979933
140regulation of beta-amyloid formation (GO:1902003)2.70713495
141cellular response to growth hormone stimulus (GO:0071378)2.68349724
142growth hormone receptor signaling pathway (GO:0060396)2.68322570
143negative regulation of lymphocyte mediated immunity (GO:0002707)2.67716298
144hepatocyte apoptotic process (GO:0097284)2.65795907
145microglial cell activation (GO:0001774)2.65686712
146* regulation of protein activation cascade (GO:2000257)2.64281935
147response to interleukin-15 (GO:0070672)2.63640217
148bundle of His cell to Purkinje myocyte communication (GO:0086069)2.62515976
149early endosome to late endosome transport (GO:0045022)2.59700723
150detection of biotic stimulus (GO:0009595)2.59659821
151regulation of B cell receptor signaling pathway (GO:0050855)2.59325198
152negative regulation of protein autophosphorylation (GO:0031953)2.58288260
153response to host immune response (GO:0052572)2.56763366
154response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.56763366
155phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)2.50668355
156response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.49886191
157response to host (GO:0075136)2.49886191
158response to host defenses (GO:0052200)2.49886191
159negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.49438519
160regulation of extracellular matrix disassembly (GO:0010715)2.48043097
161maintenance of gastrointestinal epithelium (GO:0030277)2.46758753
162regulation of amyloid precursor protein catabolic process (GO:1902991)2.46210690
163antigen processing and presentation via MHC class Ib (GO:0002475)2.45842108
164detection of bacterium (GO:0016045)2.44220951
165toxin transport (GO:1901998)2.43953386
166intestinal epithelial cell development (GO:0060576)2.43154707
167negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)2.41038501
168positive regulation of interferon-alpha production (GO:0032727)2.40271296
169neutrophil mediated immunity (GO:0002446)2.39889129
170neutrophil activation (GO:0042119)2.39506208
171regulation of cholesterol homeostasis (GO:2000188)2.38616553
172Golgi to endosome transport (GO:0006895)2.37869429
173progesterone metabolic process (GO:0042448)2.37593357
174negative regulation of glycoprotein metabolic process (GO:1903019)2.36891834
175definitive hemopoiesis (GO:0060216)2.36694098
176histone H3-K36 demethylation (GO:0070544)2.35249651
177dendritic cell migration (GO:0036336)2.34561571
178desmosome organization (GO:0002934)2.33278014
179negative regulation of establishment of protein localization to plasma membrane (GO:0090005)2.33063851
180regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.33008922
181import into cell (GO:0098657)2.32922120
182hypotonic response (GO:0006971)2.32534557
183JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)2.32064520
184positive regulation of macroautophagy (GO:0016239)2.29404458
185alpha-linolenic acid metabolic process (GO:0036109)2.28025357
186regulation of cellular amide metabolic process (GO:0034248)2.27839607
187sphingomyelin metabolic process (GO:0006684)2.27709171
188vesicle coating (GO:0006901)2.27239551
189negative regulation of B cell mediated immunity (GO:0002713)2.27000302
190negative regulation of immunoglobulin mediated immune response (GO:0002890)2.27000302
191phospholipid scrambling (GO:0017121)2.26796677
192positive regulation of interleukin-8 biosynthetic process (GO:0045416)2.25596415
193positive regulation of glycolytic process (GO:0045821)2.25559781
194response to peptidoglycan (GO:0032494)2.23688782
195regulation of nitric-oxide synthase biosynthetic process (GO:0051769)2.21164493
196embryonic process involved in female pregnancy (GO:0060136)2.20641268
197oligosaccharide catabolic process (GO:0009313)2.20512475
198regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022352.20409727
199peptide catabolic process (GO:0043171)2.19239611
200establishment of protein localization to vacuole (GO:0072666)2.17980895

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.99997051
2GBX2_23144817_ChIP-Seq_PC3_Human4.11885084
3FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.74390993
4IRF8_22096565_ChIP-ChIP_GC-B_Human3.42724440
5SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.85290208
6SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.79424938
7JARID2_20064375_ChIP-Seq_MESCs_Mouse2.68993759
8ESR1_20079471_ChIP-ChIP_T-47D_Human2.49338386
9Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.46255863
10SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.43542311
11SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.33601638
12EZH2_18974828_ChIP-Seq_MESCs_Mouse2.29072546
13RNF2_18974828_ChIP-Seq_MESCs_Mouse2.29072546
14REST_21632747_ChIP-Seq_MESCs_Mouse2.26594140
15JARID2_20075857_ChIP-Seq_MESCs_Mouse2.25163624
16* DROSHA_22980978_ChIP-Seq_HELA_Human2.25097166
17TAF15_26573619_Chip-Seq_HEK293_Human2.23016050
18MTF2_20144788_ChIP-Seq_MESCs_Mouse2.22384600
19FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human2.21917695
20SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.21060523
21EZH2_27304074_Chip-Seq_ESCs_Mouse2.19829404
22GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.19591822
23SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.18247917
24GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.17466757
25GATA1_22025678_ChIP-Seq_K562_Human2.17353179
26NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.17310152
27EED_16625203_ChIP-ChIP_MESCs_Mouse2.15256544
28FOXO3_23340844_ChIP-Seq_DLD1_Human2.12748014
29STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.08222436
30STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.07685757
31ZFP57_27257070_Chip-Seq_ESCs_Mouse2.05893027
32SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.05658936
33IRF8_27001747_Chip-Seq_BMDM_Mouse2.03459093
34IRF8_21731497_ChIP-ChIP_J774_Mouse2.02985903
35SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.02722115
36IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.02429671
37LXR_22158963_ChIP-Seq_LIVER_Mouse2.00688978
38ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.00625457
39CTBP2_25329375_ChIP-Seq_LNCAP_Human1.99975644
40NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.96753250
41SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.92116920
42GATA2_21666600_ChIP-Seq_HMVEC_Human1.91791218
43EZH2_27294783_Chip-Seq_ESCs_Mouse1.90717141
44SUZ12_27294783_Chip-Seq_ESCs_Mouse1.88245982
45CTBP1_25329375_ChIP-Seq_LNCAP_Human1.88170818
46MYB_21317192_ChIP-Seq_ERMYB_Mouse1.87629932
47* SMAD4_21799915_ChIP-Seq_A2780_Human1.86626857
48* FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.86400604
49RNF2_27304074_Chip-Seq_ESCs_Mouse1.86242482
50AR_21572438_ChIP-Seq_LNCaP_Human1.84912612
51RARB_27405468_Chip-Seq_BRAIN_Mouse1.84475212
52SOX2_27498859_Chip-Seq_STOMACH_Mouse1.82445576
53EGR1_19374776_ChIP-ChIP_THP-1_Human1.82278834
54STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.80102956
55MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.79151483
56P300_19829295_ChIP-Seq_ESCs_Human1.78810601
57POU3F2_20337985_ChIP-ChIP_501MEL_Human1.78804733
58PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.76369421
59TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.74576088
60IKZF1_21737484_ChIP-ChIP_HCT116_Human1.74193138
61SALL4_18804426_ChIP-ChIP_XEN_Mouse1.73390380
62CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.73279898
63SMAD_19615063_ChIP-ChIP_OVARY_Human1.71856912
64RXR_22158963_ChIP-Seq_LIVER_Mouse1.71793709
65ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.70467739
66SOX2_20726797_ChIP-Seq_SW620_Human1.69727935
67REST_18959480_ChIP-ChIP_MESCs_Mouse1.66622512
68FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.65893339
69PIAS1_25552417_ChIP-Seq_VCAP_Human1.64209567
70FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.60457922
71* TCF4_18268006_ChIP-ChIP_LS174T_Human1.58333553
72GATA4_25053715_ChIP-Seq_YYC3_Human1.54273393
73NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.51843126
74SPI1_23127762_ChIP-Seq_K562_Human1.51512990
75FOXA2_19822575_ChIP-Seq_HepG2_Human1.50656960
76SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.49700665
77SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.49700665
78PPAR_26484153_Chip-Seq_NCI-H1993_Human1.48971728
79SALL1_21062744_ChIP-ChIP_HESCs_Human1.47417106
80CBX2_27304074_Chip-Seq_ESCs_Mouse1.47202703
81SMAD3_21741376_ChIP-Seq_EPCs_Human1.46412476
82FUS_26573619_Chip-Seq_HEK293_Human1.45627694
83TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.44687996
84FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.43869878
85BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.43673335
86PPARA_22158963_ChIP-Seq_LIVER_Mouse1.43554515
87CLOCK_20551151_ChIP-Seq_293T_Human1.43317579
88AR_25329375_ChIP-Seq_VCAP_Human1.43198475
89AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.42348643
90RUNX_20019798_ChIP-Seq_JUKART_Human1.41523184
91BMI1_23680149_ChIP-Seq_NPCS_Mouse1.39852195
92CDX2_19796622_ChIP-Seq_MESCs_Mouse1.37964354
93STAT3_23295773_ChIP-Seq_U87_Human1.37363712
94TOP2B_26459242_ChIP-Seq_MCF-7_Human1.36953339
95SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.36717821
96RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.36186438
97ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.35207758
98ESR1_21235772_ChIP-Seq_MCF-7_Human1.35093093
99IGF1R_20145208_ChIP-Seq_DFB_Human1.34613185
100OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.34021308
101FOXM1_26456572_ChIP-Seq_MCF-7_Human1.33904474
102SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.31799439
103CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.31725280
104EGR1_23403033_ChIP-Seq_LIVER_Mouse1.31629587
105FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.31522110
106SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.30694345
107CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.30281315
108ZNF274_21170338_ChIP-Seq_K562_Hela1.30130361
109PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.29605667
110* SOX2_21211035_ChIP-Seq_LN229_Gbm1.29492773
111IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.29377100
112TCF4_23295773_ChIP-Seq_U87_Human1.29309022
113* GATA6_25053715_ChIP-Seq_YYC3_Human1.29108838
114* NANOG_18555785_Chip-Seq_ESCs_Mouse1.29079015
115AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.27740806
116* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.27466588
117MYB_26560356_Chip-Seq_TH2_Human1.25956414
118PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.24141623
119NR3C1_23031785_ChIP-Seq_PC12_Mouse1.23747935
120RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.23249582
121* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.23021512
122* FOXA1_25552417_ChIP-Seq_VCAP_Human1.22619909
123NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.21843622
124ER_23166858_ChIP-Seq_MCF-7_Human1.21074288
125UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.20001911
126* GATA2_19941826_ChIP-Seq_K562_Human1.19588917
127NR3C1_21868756_ChIP-Seq_MCF10A_Human1.18040873
128VDR_24787735_ChIP-Seq_THP-1_Human1.17854552
129MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.17189233
130POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.17167440
131TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.17167440
132TP53_16413492_ChIP-PET_HCT116_Human1.17139347
133NRF2_20460467_ChIP-Seq_MEFs_Mouse1.16388687
134NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.16388687
135ESR2_21235772_ChIP-Seq_MCF-7_Human1.16123834
136GATA3_24758297_ChIP-Seq_MCF-7_Human1.15283594
137PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.15221829
138VDR_22108803_ChIP-Seq_LS180_Human1.15070294
139RUNX2_22187159_ChIP-Seq_PCA_Human1.14731372
140* TP63_23658742_ChIP-Seq_EP156T_Human1.14457559
141ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.14367730
142MYB_26560356_Chip-Seq_TH1_Human1.14364785
143PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.14233679
144TP53_18474530_ChIP-ChIP_U2OS_Human1.13167980
145* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.12632272
146* AR_19668381_ChIP-Seq_PC3_Human1.12616047
147ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.12058430
148BCAT_22108803_ChIP-Seq_LS180_Human1.12048459
149RNF2_27304074_Chip-Seq_NSC_Mouse1.12037363
150ARNT_22903824_ChIP-Seq_MCF-7_Human1.11927851
151* E2F1_18555785_Chip-Seq_ESCs_Mouse1.11663565
152CJUN_26792858_Chip-Seq_BT549_Human1.11578391
153P53_22127205_ChIP-Seq_FIBROBLAST_Human1.11078941
154EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.10472582
155* SPI1_23547873_ChIP-Seq_NB4_Human1.10311534
156PU_27001747_Chip-Seq_BMDM_Mouse1.10123615
157ZNF217_24962896_ChIP-Seq_MCF-7_Human1.09854922
158PRDM14_20953172_ChIP-Seq_ESCs_Human1.08956092
159CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.07941210
160* P53_22387025_ChIP-Seq_ESCs_Mouse1.07386950
161CDX2_20551321_ChIP-Seq_CACO-2_Human1.07019798
162* FOXA1_26743006_Chip-Seq_LNCaP-abl_Human1.06986541
163* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.06495312
164KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.06414118
165* CMYC_18555785_Chip-Seq_ESCs_Mouse1.04359838
166GATA3_27048872_Chip-Seq_THYMUS_Human1.04120786
167MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.03172591
168FLI1_27457419_Chip-Seq_LIVER_Mouse1.02399131
169AHR_22903824_ChIP-Seq_MCF-7_Human1.01676124
170GATA1_19941826_ChIP-Seq_K562_Human1.00825732
171YAP1_20516196_ChIP-Seq_MESCs_Mouse1.00610993
172PCGF2_27294783_Chip-Seq_ESCs_Mouse1.00610277
173GATA3_26560356_Chip-Seq_TH2_Human0.99642388
174* RING1B_27294783_Chip-Seq_ESCs_Mouse0.99489681
175BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.99193783
176TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98804280
177WT1_19549856_ChIP-ChIP_CCG9911_Human0.98699192
178SUZ12_27294783_Chip-Seq_NPCs_Mouse0.97885030
179NFE2_27457419_Chip-Seq_LIVER_Mouse0.97857993
180BRD4_27068464_Chip-Seq_AML-cells_Mouse0.97769036
181* CDX2_22108803_ChIP-Seq_LS180_Human0.97629751
182TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.97572488
183KDM2B_26808549_Chip-Seq_REH_Human0.97491098
184* SUZ12_18555785_Chip-Seq_ESCs_Mouse0.97473117
185EZH2_27294783_Chip-Seq_NPCs_Mouse0.97049083
186ERG_21242973_ChIP-ChIP_JURKAT_Human0.95255282
187PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.94972744
188CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.93547925
189SOX9_24532713_ChIP-Seq_HFSC_Mouse0.91394905
190* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.91132664

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.17966035
2MP0003880_abnormal_central_pattern4.98678722
3MP0003635_abnormal_synaptic_transmissio3.82040400
4MP0010234_abnormal_vibrissa_follicle3.67927898
5MP0003724_increased_susceptibility_to3.65877869
6MP0009745_abnormal_behavioral_response3.44599195
7MP0009046_muscle_twitch3.41761357
8MP0002064_seizures3.19026327
9MP0001968_abnormal_touch/_nociception2.99527296
10MP0002063_abnormal_learning/memory/cond2.96829446
11MP0001486_abnormal_startle_reflex2.81235830
12MP0002572_abnormal_emotion/affect_behav2.80345317
13MP0002272_abnormal_nervous_system2.77513338
14MP0001501_abnormal_sleep_pattern2.73245404
15MP0004270_analgesia2.71313691
16MP0003300_gastrointestinal_ulcer2.70851576
17MP0003191_abnormal_cellular_cholesterol2.65416842
18MP0002822_catalepsy2.61601873
19MP0002736_abnormal_nociception_after2.60769770
20MP0005423_abnormal_somatic_nervous2.58943996
21MP0004264_abnormal_extraembryonic_tissu2.51619835
22MP0002166_altered_tumor_susceptibility2.50227661
23MP0010352_gastrointestinal_tract_polyps2.37391804
24MP0002734_abnormal_mechanical_nocicepti2.24576412
25MP0001440_abnormal_grooming_behavior2.23042645
26MP0002067_abnormal_sensory_capabilities2.21116407
27MP0005551_abnormal_eye_electrophysiolog2.18172145
28MP0002735_abnormal_chemical_nociception2.13158625
29MP0003172_abnormal_lysosome_physiology2.07876474
30MP0006054_spinal_hemorrhage1.90385507
31MP0005646_abnormal_pituitary_gland1.89845420
32MP0008569_lethality_at_weaning1.88980124
33MP0001835_abnormal_antigen_presentation1.85967251
34MP0003195_calcinosis1.85862395
35MP0001984_abnormal_olfaction1.84940514
36MP0001188_hyperpigmentation1.81608841
37MP0001502_abnormal_circadian_rhythm1.80918364
38MP0004924_abnormal_behavior1.79346251
39MP0005386_behavior/neurological_phenoty1.79346251
40MP0003787_abnormal_imprinting1.79060424
41MP0001970_abnormal_pain_threshold1.78026939
42MP0003436_decreased_susceptibility_to1.76765953
43MP0001529_abnormal_vocalization1.73253169
44MP0003656_abnormal_erythrocyte_physiolo1.73099545
45MP0002139_abnormal_hepatobiliary_system1.71689979
46MP0005085_abnormal_gallbladder_physiolo1.71361274
47MP0002009_preneoplasia1.70721753
48MP0006276_abnormal_autonomic_nervous1.70490510
49MP0002733_abnormal_thermal_nociception1.69947591
50MP0002557_abnormal_social/conspecific_i1.66289853
51MP0005164_abnormal_response_to1.64570034
52MP0004142_abnormal_muscle_tone1.64259483
53MP0002184_abnormal_innervation1.62871031
54MP0009780_abnormal_chondrocyte_physiolo1.60901004
55MP0002006_tumorigenesis1.57366337
56MP0010678_abnormal_skin_adnexa1.55973443
57MP0003879_abnormal_hair_cell1.54688601
58MP0003566_abnormal_cell_adhesion1.54220255
59MP0004145_abnormal_muscle_electrophysio1.51836060
60MP0005365_abnormal_bile_salt1.51784425
61MP0003252_abnormal_bile_duct1.50673886
62MP0005451_abnormal_body_composition1.50110307
63MP0004883_abnormal_blood_vessel1.49456213
64MP0002419_abnormal_innate_immunity1.49379336
65MP0010329_abnormal_lipoprotein_level1.49075640
66MP0003828_pulmonary_edema1.48088587
67MP0010386_abnormal_urinary_bladder1.47689489
68MP0001905_abnormal_dopamine_level1.45662116
69MP0002132_abnormal_respiratory_system1.43938545
70MP0001666_abnormal_nutrient_absorption1.43418332
71MP0005058_abnormal_lysosome_morphology1.43051999
72MP0005645_abnormal_hypothalamus_physiol1.40752885
73MP0009785_altered_susceptibility_to1.38922607
74MP0008260_abnormal_autophagy1.38114026
75MP0004782_abnormal_surfactant_physiolog1.37367318
76MP0000778_abnormal_nervous_system1.36468103
77MP0002909_abnormal_adrenal_gland1.35784926
78MP0005083_abnormal_biliary_tract1.33089754
79MP0003122_maternal_imprinting1.32118870
80MP0005408_hypopigmentation1.31920435
81MP0005379_endocrine/exocrine_gland_phen1.31084010
82MP0002066_abnormal_motor_capabilities/c1.30529880
83MP0002638_abnormal_pupillary_reflex1.29599759
84MP0003633_abnormal_nervous_system1.29433054
85MP0004742_abnormal_vestibular_system1.29323252
86MP0010155_abnormal_intestine_physiology1.29017037
87MP0002882_abnormal_neuron_morphology1.28993359
88MP0000685_abnormal_immune_system1.27522869
89MP0005025_abnormal_response_to1.24035880
90MP0003329_amyloid_beta_deposits1.24022033
91MP0002837_dystrophic_cardiac_calcinosis1.22903723
92MP0005464_abnormal_platelet_physiology1.21579422
93MP0004885_abnormal_endolymph1.21424387
94MP0001533_abnormal_skeleton_physiology1.20540053
95MP0002229_neurodegeneration1.20018029
96MP0006082_CNS_inflammation1.19612338
97MP0004215_abnormal_myocardial_fiber1.18955279
98MP0004947_skin_inflammation1.17610241
99MP0000955_abnormal_spinal_cord1.17312433
100MP0006072_abnormal_retinal_apoptosis1.17167069
101MP0002396_abnormal_hematopoietic_system1.17125881
102MP0004019_abnormal_vitamin_homeostasis1.16952161
103MP0001765_abnormal_ion_homeostasis1.16350355
104MP0004811_abnormal_neuron_physiology1.15829708
105MP0000858_altered_metastatic_potential1.15252101
106MP0000609_abnormal_liver_physiology1.15010179
107MP0003868_abnormal_feces_composition1.14974488
108MP0002168_other_aberrant_phenotype1.14779087
109MP0008057_abnormal_DNA_replication1.14201772
110MP0002118_abnormal_lipid_homeostasis1.12108775
111MP0002693_abnormal_pancreas_physiology1.11825539
112MP0003303_peritoneal_inflammation1.11370727
113MP0003631_nervous_system_phenotype1.10698302
114MP0001845_abnormal_inflammatory_respons1.10603330
115MP0005253_abnormal_eye_physiology1.08072635
116MP0003866_abnormal_defecation1.08056296
117MP0001800_abnormal_humoral_immune1.04745624
118MP0002090_abnormal_vision1.04164646
119MP0003690_abnormal_glial_cell1.03295585
120MP0009643_abnormal_urine_homeostasis1.03259371
121MP0000465_gastrointestinal_hemorrhage1.03021804
122MP0004381_abnormal_hair_follicle1.02660083
123MP0001790_abnormal_immune_system1.02585973
124MP0005387_immune_system_phenotype1.02585973
125MP0001851_eye_inflammation1.01861957
126MP0008469_abnormal_protein_level1.00852895
127MP0004085_abnormal_heartbeat0.99735366
128MP0005310_abnormal_salivary_gland0.98759723
129MP0003763_abnormal_thymus_physiology0.98447835
130MP0002723_abnormal_immune_serum0.98091105
131MP0002405_respiratory_system_inflammati0.97787850
132MP0005409_darkened_coat_color0.97556510
133MP0000751_myopathy0.97149182
134MP0001756_abnormal_urination0.96252381
135MP0005535_abnormal_body_temperature0.96129243
136MP0005000_abnormal_immune_tolerance0.95906667
137MP0001963_abnormal_hearing_physiology0.95630648
138MP0002452_abnormal_antigen_presenting0.94928762
139MP0006292_abnormal_olfactory_placode0.94406234
140MP0008004_abnormal_stomach_pH0.92656895
141MP0003091_abnormal_cell_migration0.90678218
142MP0001819_abnormal_immune_cell0.90470495
143MP0004484_altered_response_of0.90452512
144MP0002069_abnormal_eating/drinking_beha0.90426666
145MP0002254_reproductive_system_inflammat0.89389174
146MP0008872_abnormal_physiological_respon0.89364149
147MP0002420_abnormal_adaptive_immunity0.89319218
148MP0002971_abnormal_brown_adipose0.89212132
149MP0008874_decreased_physiological_sensi0.89175299
150MP0000383_abnormal_hair_follicle0.89064321
151MP0002152_abnormal_brain_morphology0.88515881
152MP0002876_abnormal_thyroid_physiology0.88246275
153MP0005332_abnormal_amino_acid0.87853772
154MP0001177_atelectasis0.86926714
155MP0000003_abnormal_adipose_tissue0.86293198
156MP0002752_abnormal_somatic_nervous0.86203354
157MP0002078_abnormal_glucose_homeostasis0.85413714
158MP0005636_abnormal_mineral_homeostasis0.85268244
159MP0003632_abnormal_nervous_system0.84510207
160MP0005248_abnormal_Harderian_gland0.84364075
161MP0000920_abnormal_myelination0.84292539
162MP0001661_extended_life_span0.83421934
163MP0002136_abnormal_kidney_physiology0.82484520
164MP0003453_abnormal_keratinocyte_physiol0.80955148
165MP0003943_abnormal_hepatobiliary_system0.80797218
166MP0000427_abnormal_hair_cycle0.80511976
167MP0001216_abnormal_epidermal_layer0.80335886
168MP0003183_abnormal_peptide_metabolism0.79840299
169MP0002877_abnormal_melanocyte_morpholog0.79757917
170MP0001664_abnormal_digestion0.78707561
171MP0005171_absent_coat_pigmentation0.77550423
172MP0003045_fibrosis0.76834276
173MP0001944_abnormal_pancreas_morphology0.76352069
174MP0004043_abnormal_pH_regulation0.76158713
175MP0000013_abnormal_adipose_tissue0.73850340
176MP0003137_abnormal_impulse_conducting0.71311225
177MP0003634_abnormal_glial_cell0.70342940
178MP0000631_abnormal_neuroendocrine_gland0.70273309
179MP0004858_abnormal_nervous_system0.68802324
180MP0001485_abnormal_pinna_reflex0.63967240
181MP0005195_abnormal_posterior_eye0.63059071
182MP0004233_abnormal_muscle_weight0.62543606
183MP0000026_abnormal_inner_ear0.62431171
184MP0004036_abnormal_muscle_relaxation0.61626707
185MP0001986_abnormal_taste_sensitivity0.60542923
186MP0003075_altered_response_to0.60179380
187MP0004510_myositis0.59287623
188MP0005620_abnormal_muscle_contractility0.55008960
189MP0005595_abnormal_vascular_smooth0.52204071
190MP0003646_muscle_fatigue0.51858946
191MP0000604_amyloidosis0.51479358

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.44375917
2Febrile seizures (HP:0002373)5.93237017
3Focal seizures (HP:0007359)5.64017728
4Epileptic encephalopathy (HP:0200134)5.58391544
5Atonic seizures (HP:0010819)4.73124802
6Hyperventilation (HP:0002883)4.69401076
7Progressive cerebellar ataxia (HP:0002073)4.67667878
8Visual hallucinations (HP:0002367)4.50053187
9Absence seizures (HP:0002121)4.32076694
10Myokymia (HP:0002411)4.21723992
11Dialeptic seizures (HP:0011146)4.19299255
12Eczematoid dermatitis (HP:0000976)4.13607614
13Generalized tonic-clonic seizures (HP:0002069)3.99157267
14Broad-based gait (HP:0002136)3.97422066
15Gaze-evoked nystagmus (HP:0000640)3.79521194
16Congenital stationary night blindness (HP:0007642)3.79262182
17Action tremor (HP:0002345)3.50621399
18Dysdiadochokinesis (HP:0002075)3.36817196
19Right ventricular cardiomyopathy (HP:0011663)3.22849224
20Truncal ataxia (HP:0002078)3.18391274
21Orchitis (HP:0100796)3.17039519
22Gingival bleeding (HP:0000225)3.15892843
23Hemiparesis (HP:0001269)3.14232690
24Recurrent bacterial skin infections (HP:0005406)3.13004303
25Recurrent abscess formation (HP:0002722)3.12858974
26Diplopia (HP:0000651)3.12637795
27Abnormality of binocular vision (HP:0011514)3.12637795
28Recurrent gram-negative bacterial infections (HP:0005420)3.05952937
29Papillary thyroid carcinoma (HP:0002895)3.03753505
30Abnormality of macrophages (HP:0004311)3.01569475
31Excessive salivation (HP:0003781)3.00025699
32Drooling (HP:0002307)3.00025699
33Dysmetria (HP:0001310)2.99884475
34Poor eye contact (HP:0000817)2.99594467
35Scanning speech (HP:0002168)2.99255709
36Myositis (HP:0100614)2.99241329
37Absent speech (HP:0001344)2.96664348
38Optic neuritis (HP:0100653)2.95048127
39Retrobulbar optic neuritis (HP:0100654)2.95048127
40Interstitial pulmonary disease (HP:0006530)2.90260291
41Progressive inability to walk (HP:0002505)2.85170537
42Postural instability (HP:0002172)2.78277448
43Abnormal social behavior (HP:0012433)2.77496570
44Impaired social interactions (HP:0000735)2.77496570
45Anxiety (HP:0000739)2.76857309
46Subacute progressive viral hepatitis (HP:0006572)2.76231134
47Genetic anticipation (HP:0003743)2.74620989
48Impaired smooth pursuit (HP:0007772)2.72142186
49Central scotoma (HP:0000603)2.70723718
50Protruding tongue (HP:0010808)2.68864818
51Vascular calcification (HP:0004934)2.68480570
52Increased CSF protein (HP:0002922)2.66858218
53Gingivitis (HP:0000230)2.64134185
54Status epilepticus (HP:0002133)2.63616782
55Abnormality of the common coagulation pathway (HP:0010990)2.61910009
56Abnormality of ocular smooth pursuit (HP:0000617)2.61040272
57Gastrointestinal infarctions (HP:0005244)2.59042408
58Urinary glycosaminoglycan excretion (HP:0003541)2.56723868
59Mucopolysacchariduria (HP:0008155)2.56723868
60Abnormality of macular pigmentation (HP:0008002)2.55037878
61Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.54522654
62Gait imbalance (HP:0002141)2.54006527
63Depression (HP:0000716)2.46352298
64Hemiplegia (HP:0002301)2.45914460
65Supranuclear gaze palsy (HP:0000605)2.44528937
66Inability to walk (HP:0002540)2.42562739
67Epileptiform EEG discharges (HP:0011182)2.42182728
68Cardiovascular calcification (HP:0011915)2.41473311
69Medial flaring of the eyebrow (HP:0010747)2.40896713
70Congenital primary aphakia (HP:0007707)2.40600806
71Dysmetric saccades (HP:0000641)2.39828083
72Malnutrition (HP:0004395)2.39187965
73Amblyopia (HP:0000646)2.37337451
74Impaired vibration sensation in the lower limbs (HP:0002166)2.36945376
75Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.36928347
76Abnormality of mucopolysaccharide metabolism (HP:0011020)2.36866267
77Abnormality of polysaccharide metabolism (HP:0011012)2.36866267
78Abnormality of glycosaminoglycan metabolism (HP:0004371)2.36866267
79Abnormal eating behavior (HP:0100738)2.36763681
80Blue irides (HP:0000635)2.33239832
81Keratoconjunctivitis sicca (HP:0001097)2.31095931
82Prolonged bleeding time (HP:0003010)2.30346612
83Cheilitis (HP:0100825)2.28438301
84Testicular neoplasm (HP:0010788)2.27935527
85Mitral stenosis (HP:0001718)2.23015786
86Nephrogenic diabetes insipidus (HP:0009806)2.22003352
87Psychosis (HP:0000709)2.21153341
88EEG with generalized epileptiform discharges (HP:0011198)2.20868431
89Episodic fever (HP:0001954)2.19561897
90Thyroid carcinoma (HP:0002890)2.18855450
91Bradykinesia (HP:0002067)2.18576944
92Urinary bladder sphincter dysfunction (HP:0002839)2.18399298
93Fair hair (HP:0002286)2.18211388
94Macroorchidism (HP:0000053)2.17168317
95Spontaneous hematomas (HP:0007420)2.17156671
96Generalized hypopigmentation of hair (HP:0011358)2.16497345
97Periodontitis (HP:0000704)2.16101359
98Deep venous thrombosis (HP:0002625)2.15721632
99Peritonitis (HP:0002586)2.15275320
100Stereotypic behavior (HP:0000733)2.14889118
101Flat acetabular roof (HP:0003180)2.13569521
102Thickened helices (HP:0000391)2.13469361
103Recurrent skin infections (HP:0001581)2.13355430
104Arterial thrombosis (HP:0004420)2.12925278
105Neoplasm of the tracheobronchial system (HP:0100552)2.12673145
106Curly hair (HP:0002212)2.12155760
107Keratoconjunctivitis (HP:0001096)2.11387638
108Absent/shortened dynein arms (HP:0200106)2.10330946
109Dynein arm defect of respiratory motile cilia (HP:0012255)2.10330946
110Abnormality of chloride homeostasis (HP:0011422)2.08139211
111Menorrhagia (HP:0000132)2.05872561
112Decreased central vision (HP:0007663)2.05729351
113Clumsiness (HP:0002312)2.05706789
114Abnormality of salivation (HP:0100755)2.05369276
115Widely spaced teeth (HP:0000687)2.05260960
116Hypobetalipoproteinemia (HP:0003563)2.05047236
117Dyschromatopsia (HP:0007641)2.04991762
118Hyperactive renin-angiotensin system (HP:0000841)2.04931362
119Orthostatic hypotension (HP:0001278)2.04809663
120Genital tract atresia (HP:0001827)2.03987916
121Chronic hepatic failure (HP:0100626)2.03657070
122Vacuolated lymphocytes (HP:0001922)2.03173765
123Chronic diarrhea (HP:0002028)2.02662002
124Retinal dysplasia (HP:0007973)2.00453578
125Osteolytic defects of the phalanges of the hand (HP:0009771)2.00417383
126Osteolytic defects of the hand bones (HP:0009699)2.00417383
127Neurofibrillary tangles (HP:0002185)2.00203385
128Intention tremor (HP:0002080)1.99790391
129Vaginal atresia (HP:0000148)1.99511041
130Generalized myoclonic seizures (HP:0002123)1.97429402
131Hematochezia (HP:0002573)1.97362694
132T lymphocytopenia (HP:0005403)1.97165914
133Thickened calvaria (HP:0002684)1.96915626
134Abnormality of T cell number (HP:0011839)1.96115946
135Coarse hair (HP:0002208)1.95498246
136Conjugated hyperbilirubinemia (HP:0002908)1.95135361
137Acute hepatic failure (HP:0006554)1.94547575
138Polyphagia (HP:0002591)1.92146604
139Glomerulonephritis (HP:0000099)1.92009792
140Hypsarrhythmia (HP:0002521)1.91804507
141Scotoma (HP:0000575)1.91120168
142Epistaxis (HP:0000421)1.90604608
143Abnormal hair whorl (HP:0010721)1.89685549
144Impaired vibratory sensation (HP:0002495)1.89425432
145Limb dystonia (HP:0002451)1.89344186
146Fat malabsorption (HP:0002630)1.89200405
147Gait ataxia (HP:0002066)1.88920274
148Arterial tortuosity (HP:0005116)1.85577593
149Dysostosis multiplex (HP:0000943)1.85415039
150Stomatitis (HP:0010280)1.84348554
151Amyloidosis (HP:0011034)1.84232514
152Abnormal foot bone ossification (HP:0010675)1.83351305
153Acanthocytosis (HP:0001927)1.83036778
154Cerebral inclusion bodies (HP:0100314)1.82906233
155Abnormality of monocarboxylic acid metabolism (HP:0010996)1.82748039
156Asymmetry of the thorax (HP:0001555)1.82433363
157Myocardial infarction (HP:0001658)1.81623018
158Epidermoid cyst (HP:0200040)1.81550292
159Prolonged partial thromboplastin time (HP:0003645)1.81506269
160Poor coordination (HP:0002370)1.81036684
161Xanthomatosis (HP:0000991)1.80354450
162Syncope (HP:0001279)1.80095957
163Ankle clonus (HP:0011448)1.79704214
164Joint hemorrhage (HP:0005261)1.79538039
165Spastic gait (HP:0002064)1.79521866
166Incomplete penetrance (HP:0003829)1.78924667
167Pheochromocytoma (HP:0002666)1.78846995
168Hypoglycemic seizures (HP:0002173)1.77718642
169Confusion (HP:0001289)1.77583035
170Joint swelling (HP:0001386)1.77535544
171Alveolar cell carcinoma (HP:0006519)1.75837329
172Ankyloglossia (HP:0010296)1.75797659
173Pulmonary embolism (HP:0002204)1.75676951
174Skin nodule (HP:0200036)1.75522182
175Loss of speech (HP:0002371)1.74278505
176Micronodular cirrhosis (HP:0001413)1.73635216
177Specific learning disability (HP:0001328)1.73265968
178Postural tremor (HP:0002174)1.73095004
179Torticollis (HP:0000473)1.72218530
180Abnormal EKG (HP:0003115)1.71837869
181Abnormal rod and cone electroretinograms (HP:0008323)1.71754828
182Hypotension (HP:0002615)1.71578559
183Hyperglycemia (HP:0003074)1.71427665
184Prolonged QT interval (HP:0001657)1.71144032
185Recurrent fungal infections (HP:0002841)1.71084054
186Hepatocellular carcinoma (HP:0001402)1.70164965
187Hypoglycemic coma (HP:0001325)1.69394065
188Abnormality of glycolipid metabolism (HP:0010969)1.68809615
189Abnormality of liposaccharide metabolism (HP:0010968)1.68809615
190Abnormality of glycosphingolipid metabolism (HP:0004343)1.68809615
191Fetal akinesia sequence (HP:0001989)1.68658065
192Abnormality of saccadic eye movements (HP:0000570)1.68599964
193Vasculitis (HP:0002633)1.68272430
194Hyperkalemia (HP:0002153)1.67475549
195Glucose intolerance (HP:0000833)1.67175377
196Aplasia involving bones of the extremities (HP:0009825)1.66641348
197Aplasia of the phalanges of the hand (HP:0009802)1.66641348
198Polycythemia (HP:0001901)1.66361324
199Osteomyelitis (HP:0002754)1.66314629
200Abnormal glucose tolerance (HP:0001952)1.66219988

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.65115649
2EPHA44.27877654
3CASK3.63516904
4MAP3K43.10143098
5MAP2K73.05802804
6FGFR32.80446265
7TNIK2.79207447
8FRK2.73909274
9MAP3K22.72059673
10RIPK42.67508494
11MST1R2.65084273
12MAP3K92.33309109
13FGFR42.29445695
14TYK22.28393274
15EPHB12.24255489
16MAP2K42.12584214
17EPHA32.03621647
18MAP3K122.01725875
19ERN11.98430463
20TRPM71.93511666
21FER1.86598229
22NTRK21.85718998
23DAPK21.81275066
24MINK11.81220239
25JAK11.78366385
26PRPF4B1.73153011
27RIPK11.72371712
28EPHA21.68124768
29PNCK1.67783765
30AKT31.66974952
31CSK1.64169277
32BLK1.63300125
33MAP3K131.62138640
34NLK1.58335020
35MAP3K141.57306596
36MST41.56836556
37ZAP701.52549852
38BRSK21.52296203
39LATS11.48994691
40FES1.46525793
41ACVR1B1.44022660
42PLK21.39843021
43SGK21.39830948
44MAPK131.39535012
45IRAK11.36494030
46MAP2K31.36164099
47MAP3K31.32688119
48BMPR21.28752182
49MARK11.28611705
50PAK61.26835822
51CDK51.25719708
52STK381.23768447
53IRAK41.23669337
54KSR11.23325927
55TAOK31.22724338
56PRKCG1.21846004
57MET1.21508532
58CAMK2A1.19134337
59INSRR1.18895651
60SGK2231.18706280
61SGK4941.18706280
62CAMK2B1.16847013
63GRK51.16105830
64JAK21.15956458
65SIK21.13613142
66PRKAA21.13364003
67CAMKK21.12232595
68DAPK11.12090137
69MUSK1.10769620
70STK38L1.10339609
71CAMK1G1.09723927
72JAK31.07773800
73PHKG21.05902000
74PHKG11.05902000
75PTK61.04240606
76NTRK11.04124104
77MAPKAPK31.03927198
78EEF2K1.03773558
79SGK31.03015403
80PRKD31.02770843
81GRK70.99108994
82KSR20.97732784
83MAP2K60.97167983
84CAMK2D0.96661565
85CAMKK10.96603828
86ERBB30.96259096
87OXSR10.96048411
88GRK60.95669218
89PINK10.95633182
90SGK10.94179249
91EIF2AK10.91445007
92HCK0.91120502
93CAMK10.90489242
94NEK90.90471248
95WNK10.90281016
96PRKCH0.90106297
97TNK20.90058360
98STK240.88929757
99DYRK1A0.87679188
100CDK120.86539287
101RET0.84849887
102TGFBR20.84278828
103BTK0.83666930
104PRKCE0.81373656
105CDK190.80122100
106STK30.78529400
107TEC0.78143141
108NEK60.77889360
109EIF2AK30.77785108
110FGFR20.77561463
111PTK2B0.76610610
112MAP3K60.76180609
113TAOK10.75495796
114PDGFRB0.72293465
115ITK0.71712898
116SIK30.71323797
117IKBKE0.70041719
118CDC42BPA0.69917574
119CAMK2G0.69187051
120CDK60.69157557
121CDK30.69028293
122MATK0.69000605
123RPS6KB20.68764170
124STK110.67022281
125NME10.66478035
126ADRBK20.65135135
127FGR0.63233950
128BRD40.62210475
129MAPK120.61599536
130GRK10.60840292
131HIPK20.60473882
132ARAF0.59381466
133MAPKAPK50.57298806
134ERBB20.56302622
135PKN20.55425562
136LCK0.54136380
137STK100.53312652
138BCR0.52862290
139LRRK20.52581225
140TYRO30.52503612
141MAPK70.51572225
142RPS6KA30.51446929
143PRKG20.50647762
144PTK20.50503967
145PAK40.50017459
146TBK10.49864409
147PRKACA0.49320823
148PDPK10.49243256
149MAP3K10.48826633
150MAP3K70.48609151
151CSF1R0.48515544
152PKN10.48463641
153* YES10.48318114
154MAP4K10.48242440
155PRKD20.47745285
156PRKG10.47255156
157CCNB10.46889608
158MYLK0.46494565
159MAPK110.46233904
160PRKCB0.44501330
161PIK3CG0.44473939
162PDK10.43573756
163UHMK10.43273245
164PRKCA0.42811076
165MAPK100.42747116
166WNK30.41475958
167CSNK1G20.40247711
168CAMK40.39917311
169CDK180.39866778
170FYN0.39817441
171PRKCZ0.39478664
172RAF10.39466732
173PRKCQ0.38483023
174STK390.37399560

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.58150822
2Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.99443592
3Synaptic vesicle cycle_Homo sapiens_hsa047212.94050613
4GABAergic synapse_Homo sapiens_hsa047272.83531443
5Glutamatergic synapse_Homo sapiens_hsa047242.72178358
6Circadian entrainment_Homo sapiens_hsa047132.68813492
7Morphine addiction_Homo sapiens_hsa050322.67750047
8Olfactory transduction_Homo sapiens_hsa047402.53681505
9Long-term potentiation_Homo sapiens_hsa047202.52302265
10Amphetamine addiction_Homo sapiens_hsa050312.42681206
11Phototransduction_Homo sapiens_hsa047442.30202667
12Other glycan degradation_Homo sapiens_hsa005112.28521782
13Taste transduction_Homo sapiens_hsa047422.25419539
14Salivary secretion_Homo sapiens_hsa049702.19872832
15Dopaminergic synapse_Homo sapiens_hsa047282.00999599
16Insulin secretion_Homo sapiens_hsa049112.00837024
17Maturity onset diabetes of the young_Homo sapiens_hsa049501.96508233
18Serotonergic synapse_Homo sapiens_hsa047261.96411194
19Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.91736627
20Calcium signaling pathway_Homo sapiens_hsa040201.82990059
21Staphylococcus aureus infection_Homo sapiens_hsa051501.81462187
22* Complement and coagulation cascades_Homo sapiens_hsa046101.78276235
23Long-term depression_Homo sapiens_hsa047301.76291481
24Collecting duct acid secretion_Homo sapiens_hsa049661.74977393
25Renin secretion_Homo sapiens_hsa049241.71133156
26Cholinergic synapse_Homo sapiens_hsa047251.69981618
27Gastric acid secretion_Homo sapiens_hsa049711.67050532
28Aldosterone synthesis and secretion_Homo sapiens_hsa049251.65902979
29Cocaine addiction_Homo sapiens_hsa050301.58846935
30Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.56958157
31Glycosaminoglycan degradation_Homo sapiens_hsa005311.56908547
32Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.55033914
33Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.49909826
34Oxytocin signaling pathway_Homo sapiens_hsa049211.48709954
35Leishmaniasis_Homo sapiens_hsa051401.47553383
36Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.40646019
37Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.34550170
38Osteoclast differentiation_Homo sapiens_hsa043801.34517909
39cAMP signaling pathway_Homo sapiens_hsa040241.32426718
40Sphingolipid metabolism_Homo sapiens_hsa006001.31828617
41Insulin resistance_Homo sapiens_hsa049311.24976781
42Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.24655418
43Leukocyte transendothelial migration_Homo sapiens_hsa046701.23105130
44Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.19741609
45Hepatitis C_Homo sapiens_hsa051601.19325643
46Prolactin signaling pathway_Homo sapiens_hsa049171.17240004
47GnRH signaling pathway_Homo sapiens_hsa049121.17216831
48Phosphatidylinositol signaling system_Homo sapiens_hsa040701.16794880
49Jak-STAT signaling pathway_Homo sapiens_hsa046301.15336392
50Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.14354405
51Tuberculosis_Homo sapiens_hsa051521.11405795
52Type II diabetes mellitus_Homo sapiens_hsa049301.10564761
53Cardiac muscle contraction_Homo sapiens_hsa042601.10503857
54Lysosome_Homo sapiens_hsa041421.09024004
55Starch and sucrose metabolism_Homo sapiens_hsa005001.08241563
56Toxoplasmosis_Homo sapiens_hsa051451.05610670
57Acute myeloid leukemia_Homo sapiens_hsa052211.05457437
58Pancreatic cancer_Homo sapiens_hsa052121.04603516
59cGMP-PKG signaling pathway_Homo sapiens_hsa040221.04226101
60Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.03053961
61Vitamin digestion and absorption_Homo sapiens_hsa049771.00013628
62Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.99297895
63Pancreatic secretion_Homo sapiens_hsa049720.98717770
64Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.97222897
65* Measles_Homo sapiens_hsa051620.96921153
66NOD-like receptor signaling pathway_Homo sapiens_hsa046210.96795998
67Platelet activation_Homo sapiens_hsa046110.96385761
68Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.96238690
69Vascular smooth muscle contraction_Homo sapiens_hsa042700.96205904
70Legionellosis_Homo sapiens_hsa051340.95999222
71Pentose and glucuronate interconversions_Homo sapiens_hsa000400.95367175
72AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.95244415
73Non-small cell lung cancer_Homo sapiens_hsa052230.94973177
74Fatty acid metabolism_Homo sapiens_hsa012120.94048430
75Steroid hormone biosynthesis_Homo sapiens_hsa001400.93951333
76Gap junction_Homo sapiens_hsa045400.93355027
77Fatty acid degradation_Homo sapiens_hsa000710.93316064
78mTOR signaling pathway_Homo sapiens_hsa041500.93090619
79Circadian rhythm_Homo sapiens_hsa047100.93019889
80Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.92097250
81Toll-like receptor signaling pathway_Homo sapiens_hsa046200.92037636
82B cell receptor signaling pathway_Homo sapiens_hsa046620.91930154
83Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.91660637
84Influenza A_Homo sapiens_hsa051640.91540339
85Renal cell carcinoma_Homo sapiens_hsa052110.91137533
86Adipocytokine signaling pathway_Homo sapiens_hsa049200.89478663
87Vibrio cholerae infection_Homo sapiens_hsa051100.87046665
88Renin-angiotensin system_Homo sapiens_hsa046140.86949474
89Histidine metabolism_Homo sapiens_hsa003400.86480634
90Thyroid cancer_Homo sapiens_hsa052160.85811716
91Sulfur metabolism_Homo sapiens_hsa009200.84427979
92TNF signaling pathway_Homo sapiens_hsa046680.83499961
93FoxO signaling pathway_Homo sapiens_hsa040680.82626959
94T cell receptor signaling pathway_Homo sapiens_hsa046600.82415520
95Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.81968106
96Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.81438118
97Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.81212446
98Adherens junction_Homo sapiens_hsa045200.80926631
99Dilated cardiomyopathy_Homo sapiens_hsa054140.80152305
100Endometrial cancer_Homo sapiens_hsa052130.78353457
101Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.77181938
102Dorso-ventral axis formation_Homo sapiens_hsa043200.76163003
103Pertussis_Homo sapiens_hsa051330.76008764
104PPAR signaling pathway_Homo sapiens_hsa033200.75165356
105Phagosome_Homo sapiens_hsa041450.75068075
106Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.74935603
107Malaria_Homo sapiens_hsa051440.74843443
108Estrogen signaling pathway_Homo sapiens_hsa049150.74539356
109ErbB signaling pathway_Homo sapiens_hsa040120.74123826
110Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.73047817
111Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.72865127
112Axon guidance_Homo sapiens_hsa043600.72673530
113Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.72430111
114Melanogenesis_Homo sapiens_hsa049160.72422318
115NF-kappa B signaling pathway_Homo sapiens_hsa040640.72170387
116Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.71121121
117Chronic myeloid leukemia_Homo sapiens_hsa052200.70296443
118Thyroid hormone synthesis_Homo sapiens_hsa049180.68723206
119Choline metabolism in cancer_Homo sapiens_hsa052310.67861913
120RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.67778389
121Hepatitis B_Homo sapiens_hsa051610.66841480
122Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.66537634
123Phospholipase D signaling pathway_Homo sapiens_hsa040720.66183772
124MAPK signaling pathway_Homo sapiens_hsa040100.64917693
125Glioma_Homo sapiens_hsa052140.64685920
126Carbohydrate digestion and absorption_Homo sapiens_hsa049730.64421107
127Retinol metabolism_Homo sapiens_hsa008300.63841186
128Alzheimers disease_Homo sapiens_hsa050100.62925971
129Hematopoietic cell lineage_Homo sapiens_hsa046400.61480337
130Regulation of autophagy_Homo sapiens_hsa041400.61104978
131Prostate cancer_Homo sapiens_hsa052150.60881574
132Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.60497178
133Arginine biosynthesis_Homo sapiens_hsa002200.60490708
134Amoebiasis_Homo sapiens_hsa051460.60195083
135Inositol phosphate metabolism_Homo sapiens_hsa005620.59446010
136Proteoglycans in cancer_Homo sapiens_hsa052050.59201066
137Small cell lung cancer_Homo sapiens_hsa052220.57955820
138Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.57249307
139N-Glycan biosynthesis_Homo sapiens_hsa005100.57093149
140Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.54966505
141Oxidative phosphorylation_Homo sapiens_hsa001900.53893843
142Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.53707672
143Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.53525585
144Glucagon signaling pathway_Homo sapiens_hsa049220.53104155
145Chemical carcinogenesis_Homo sapiens_hsa052040.52022935
146Rheumatoid arthritis_Homo sapiens_hsa053230.51679352
147Focal adhesion_Homo sapiens_hsa045100.51244505
148Fatty acid biosynthesis_Homo sapiens_hsa000610.51002835
149African trypanosomiasis_Homo sapiens_hsa051430.49560377
150Ras signaling pathway_Homo sapiens_hsa040140.47581217
151Type I diabetes mellitus_Homo sapiens_hsa049400.47202020
152Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.46617515
153Bile secretion_Homo sapiens_hsa049760.45271142
154Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.41939423
155Glycerophospholipid metabolism_Homo sapiens_hsa005640.38820705
156Ovarian steroidogenesis_Homo sapiens_hsa049130.38467376
157Rap1 signaling pathway_Homo sapiens_hsa040150.37220171
158Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.35713731
159Mineral absorption_Homo sapiens_hsa049780.33472718
160Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.32052728
161Sphingolipid signaling pathway_Homo sapiens_hsa040710.31629721
162Thyroid hormone signaling pathway_Homo sapiens_hsa049190.29798544
163SNARE interactions in vesicular transport_Homo sapiens_hsa041300.27817758
164Oocyte meiosis_Homo sapiens_hsa041140.25940758
165Nitrogen metabolism_Homo sapiens_hsa009100.25291109
166Alcoholism_Homo sapiens_hsa050340.25161340
167Chemokine signaling pathway_Homo sapiens_hsa040620.24947776
168Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.24310706
169ABC transporters_Homo sapiens_hsa020100.21390994
170Glycerolipid metabolism_Homo sapiens_hsa005610.21283220
171Wnt signaling pathway_Homo sapiens_hsa043100.21107965
172Longevity regulating pathway - mammal_Homo sapiens_hsa042110.20361335
173Neurotrophin signaling pathway_Homo sapiens_hsa047220.19310828
174Insulin signaling pathway_Homo sapiens_hsa049100.18288373
175VEGF signaling pathway_Homo sapiens_hsa043700.18283282
176Parkinsons disease_Homo sapiens_hsa050120.17561586
177Prion diseases_Homo sapiens_hsa050200.16762785

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