KCNH2

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





Description: This gene encodes a voltage-activated potassium channel belonging to the eag family. It shares sequence similarity with the Drosophila ether-a-go-go (eag) gene. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protoporphyrinogen IX metabolic process (GO:0046501)9.82762865
2protoporphyrinogen IX biosynthetic process (GO:0006782)8.93917182
3oxygen transport (GO:0015671)6.81343672
4gas transport (GO:0015669)6.74383319
5negative regulation of erythrocyte differentiation (GO:0045647)6.71811315
6porphyrin-containing compound biosynthetic process (GO:0006779)6.56405877
7erythrocyte maturation (GO:0043249)6.37628635
8cell communication by electrical coupling involved in cardiac conduction (GO:0086064)6.25414699
9heme biosynthetic process (GO:0006783)5.77367065
10tetrapyrrole biosynthetic process (GO:0033014)5.76136346
11cardiac myofibril assembly (GO:0055003)5.74462139
12cell communication by electrical coupling (GO:0010644)5.62840276
13regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO5.50027552
14sarcomere organization (GO:0045214)5.30412207
15porphyrin-containing compound metabolic process (GO:0006778)5.28404462
16erythrocyte development (GO:0048821)5.25237895
17negative regulation of potassium ion transmembrane transporter activity (GO:1901017)5.22902304
18regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)5.05404740
19cell communication involved in cardiac conduction (GO:0086065)4.94489967
20regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)4.82758212
21DNA unwinding involved in DNA replication (GO:0006268)4.79257682
22myofibril assembly (GO:0030239)4.69752229
23DNA topological change (GO:0006265)4.63307933
24negative regulation of cytosolic calcium ion concentration (GO:0051481)4.62323338
25* cardiac muscle contraction (GO:0060048)4.60712544
26heme metabolic process (GO:0042168)4.57690115
27positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)4.56987447
28regulation of translational fidelity (GO:0006450)4.55793638
29* negative regulation of potassium ion transmembrane transport (GO:1901380)4.53846361
30plasma membrane repair (GO:0001778)4.43627486
31regulation of histone H3-K4 methylation (GO:0051569)4.42462890
32granulocyte differentiation (GO:0030851)4.39488563
33sodium ion export (GO:0071436)4.30730521
34nuclear pore complex assembly (GO:0051292)4.22092960
35membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.16957844
36* regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)4.09955853
37relaxation of cardiac muscle (GO:0055119)4.01117594
38regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)4.00096965
39positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.95313412
40proline biosynthetic process (GO:0006561)3.95145116
41hemoglobin metabolic process (GO:0020027)3.95133968
42regulation of actin filament-based movement (GO:1903115)3.94229404
43growth hormone secretion (GO:0030252)3.92155357
44DNA replication initiation (GO:0006270)3.92110634
45* regulation of membrane repolarization (GO:0060306)3.89439327
46regulation of RNA export from nucleus (GO:0046831)3.87937369
47cardiac muscle cell development (GO:0055013)3.86787776
48regulation of the force of heart contraction (GO:0002026)3.79860906
49creatine metabolic process (GO:0006600)3.78411563
50definitive hemopoiesis (GO:0060216)3.77563305
51detection of calcium ion (GO:0005513)3.74272361
52synaptic vesicle maturation (GO:0016188)3.69126867
53tricarboxylic acid cycle (GO:0006099)3.68761993
54nuclear pore organization (GO:0006999)3.66746497
55adult heart development (GO:0007512)3.63189717
56activation of protein kinase A activity (GO:0034199)3.63032022
57potassium ion import (GO:0010107)3.60925484
58actomyosin structure organization (GO:0031032)3.60537834
59* ventricular cardiac muscle cell action potential (GO:0086005)3.60141006
60cardiac cell development (GO:0055006)3.59639144
61DNA replication checkpoint (GO:0000076)3.56039180
62regulation of erythrocyte differentiation (GO:0045646)3.54194553
63positive regulation of megakaryocyte differentiation (GO:0045654)3.53453911
64regulation of histone H3-K27 methylation (GO:0061085)3.53433964
65neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)3.51164597
66negative regulation of histone methylation (GO:0031061)3.50349608
67oxidative phosphorylation (GO:0006119)3.48042451
68positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.47173286
69regulation of short-term neuronal synaptic plasticity (GO:0048172)3.45849509
70iron ion import (GO:0097286)3.45047443
71oxaloacetate metabolic process (GO:0006107)3.45035901
72cardiac muscle hypertrophy (GO:0003300)3.43921263
73regulation of striated muscle contraction (GO:0006942)3.41122878
74myeloid cell development (GO:0061515)3.40171642
75regulation of calcium ion transmembrane transport (GO:1903169)3.39764695
76regulation of calcium ion transmembrane transporter activity (GO:1901019)3.39764695
77heart trabecula formation (GO:0060347)3.37332538
78ventricular cardiac muscle tissue morphogenesis (GO:0055010)3.35100324
79regulation of relaxation of muscle (GO:1901077)3.34873971
80sarcoplasmic reticulum calcium ion transport (GO:0070296)3.33326751
81mitotic chromosome condensation (GO:0007076)3.31745631
82positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.31030631
83mitotic sister chromatid segregation (GO:0000070)3.30322107
84regulation of cell communication by electrical coupling (GO:0010649)3.30201183
85regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.27446853
86regulation of nucleobase-containing compound transport (GO:0032239)3.26715260
87* striated muscle contraction (GO:0006941)3.26545797
88protein-DNA complex disassembly (GO:0032986)3.26097723
89nucleosome disassembly (GO:0006337)3.26097723
90sister chromatid segregation (GO:0000819)3.25609884
91regulation of sarcomere organization (GO:0060297)3.25580934
92striated muscle hypertrophy (GO:0014897)3.24929193
93cellular potassium ion homeostasis (GO:0030007)3.24005046
94regulation of cardiac muscle contraction (GO:0055117)3.23732570
95cardiac muscle tissue morphogenesis (GO:0055008)3.22670804
96negative regulation of cardiac muscle cell apoptotic process (GO:0010667)3.19414891
97mitotic nuclear envelope disassembly (GO:0007077)3.19143689
98regulation of histone methylation (GO:0031060)3.15989540
99negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.15937663
100regulation of cardiac muscle cell contraction (GO:0086004)3.13718711
101actin-myosin filament sliding (GO:0033275)3.13412375
102muscle filament sliding (GO:0030049)3.13412375
103* cardiac conduction (GO:0061337)3.10987832
104tetrapyrrole metabolic process (GO:0033013)3.10963394
105* positive regulation of potassium ion transmembrane transport (GO:1901381)3.10413024
106DNA strand elongation involved in DNA replication (GO:0006271)3.10293070
107regulation of synapse structural plasticity (GO:0051823)3.10097923
108bundle of His cell to Purkinje myocyte communication (GO:0086069)3.08536512
109embryonic hemopoiesis (GO:0035162)3.05658428
110* regulation of heart rate (GO:0002027)3.05559088
111nuclear envelope disassembly (GO:0051081)3.05174399
112membrane disassembly (GO:0030397)3.05174399
113pore complex assembly (GO:0046931)3.04891153
114DNA strand elongation (GO:0022616)3.02155568
115positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.01839799
116pigment biosynthetic process (GO:0046148)3.01154850
117regulation of histone H3-K9 methylation (GO:0051570)3.01153451
118erythrocyte differentiation (GO:0030218)2.98664788
119positive regulation of cation channel activity (GO:2001259)2.97175927
120* regulation of heart rate by cardiac conduction (GO:0086091)2.97044997
121* membrane repolarization during cardiac muscle cell action potential (GO:0086013)2.95599442
122* regulation of heart contraction (GO:0008016)2.95103778
123mitochondrion transport along microtubule (GO:0047497)2.95003755
124establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.95003755
125glucose 6-phosphate metabolic process (GO:0051156)2.94791467
126formation of translation preinitiation complex (GO:0001731)2.94289344
127* positive regulation of potassium ion transport (GO:0043268)2.92038077
128regulation of potassium ion transmembrane transporter activity (GO:1901016)2.90891878
129* cardiac muscle cell action potential involved in contraction (GO:0086002)2.90588642
130regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.89720749
131response to insecticide (GO:0017085)2.88984144
132regulation of synaptic vesicle exocytosis (GO:2000300)2.88181944
133* membrane repolarization (GO:0086009)2.87794862
134* negative regulation of potassium ion transport (GO:0043267)2.87687910
135muscle tissue morphogenesis (GO:0060415)2.87548506
136regulation of response to osmotic stress (GO:0047484)2.87282541
137succinate metabolic process (GO:0006105)2.87179773
138relaxation of muscle (GO:0090075)2.86236531
139* cardiac muscle cell action potential (GO:0086001)2.84816144
140regulation of cardioblast differentiation (GO:0051890)2.83673651
141layer formation in cerebral cortex (GO:0021819)2.82058115
142positive regulation of hematopoietic progenitor cell differentiation (GO:1901534)2.79543084
143carnitine shuttle (GO:0006853)2.78129261
144regulation of cation channel activity (GO:2001257)2.78093087
145synaptic vesicle exocytosis (GO:0016079)2.76996992
146negative regulation of calcium ion transmembrane transporter activity (GO:1901020)2.76217276
147negative regulation of calcium ion transmembrane transport (GO:1903170)2.76217276
148homocysteine metabolic process (GO:0050667)2.76005383
149* membrane depolarization during action potential (GO:0086010)2.75812530
150positive regulation of sodium ion transport (GO:0010765)2.75463930
151cellular response to thyroid hormone stimulus (GO:0097067)2.72530672
152cardiac muscle adaptation (GO:0014887)2.72406132
153cardiac muscle hypertrophy in response to stress (GO:0014898)2.72406132
154muscle hypertrophy in response to stress (GO:0003299)2.72406132
155muscle hypertrophy (GO:0014896)2.70135467
156* regulation of potassium ion transmembrane transport (GO:1901379)2.69993537
157locomotory exploration behavior (GO:0035641)2.68951376
158synaptic vesicle docking involved in exocytosis (GO:0016081)2.68848258
159folic acid-containing compound biosynthetic process (GO:0009396)2.67837856
160platelet formation (GO:0030220)2.67418405
161regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.67417492
162cerebellar Purkinje cell layer development (GO:0021680)2.67009795
163telomere maintenance via semi-conservative replication (GO:0032201)2.64884078
164neuromuscular process controlling posture (GO:0050884)2.64064196
165regulation of translational elongation (GO:0006448)2.63845579
166regulation of synaptic vesicle transport (GO:1902803)2.63840578
167vitamin A metabolic process (GO:0006776)2.63427222
168diterpenoid biosynthetic process (GO:0016102)2.63356773
169positive regulation of histone methylation (GO:0031062)2.63116984
170* membrane repolarization during action potential (GO:0086011)2.63002496
171positive regulation of ion transmembrane transporter activity (GO:0032414)2.61723642
172resolution of meiotic recombination intermediates (GO:0000712)2.61593551
173glycine transport (GO:0015816)2.60517797
174cerebellar Purkinje cell differentiation (GO:0021702)2.59508979
175response to methylmercury (GO:0051597)2.57470193
176Peyers patch development (GO:0048541)2.56730346
177mucosal-associated lymphoid tissue development (GO:0048537)2.56730346
178positive regulation of DNA-dependent DNA replication (GO:2000105)2.56633094
179response to thyroid hormone (GO:0097066)2.56237443
180establishment of mitochondrion localization (GO:0051654)2.55185713
181regulation of mitotic spindle organization (GO:0060236)2.55136734
182protein export from nucleus (GO:0006611)2.54829199
183IMP biosynthetic process (GO:0006188)2.54601498
184viral mRNA export from host cell nucleus (GO:0046784)2.54601073
185aerobic respiration (GO:0009060)2.53701126
186megakaryocyte development (GO:0035855)2.52597860
187negative regulation of mRNA splicing, via spliceosome (GO:0048025)2.50298860
188positive regulation of histone H3-K4 methylation (GO:0051571)2.50263226
189response to lead ion (GO:0010288)2.50108429
190proline metabolic process (GO:0006560)2.49804861
191positive regulation of erythrocyte differentiation (GO:0045648)2.49508236
192tRNA aminoacylation for protein translation (GO:0006418)2.48824245
193DNA synthesis involved in DNA repair (GO:0000731)2.47587649
194meiotic chromosome segregation (GO:0045132)2.43925372
195cell differentiation in hindbrain (GO:0021533)2.42336001
196ATP biosynthetic process (GO:0006754)2.41807776
197positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr2.41154661
198pigment metabolic process (GO:0042440)2.40124377

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human8.04189468
2GATA1_22025678_ChIP-Seq_K562_Human4.35760597
3EZH2_22144423_ChIP-Seq_EOC_Human4.21002777
4EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse4.01267174
5FOXM1_23109430_ChIP-Seq_U2OS_Human3.29150322
6HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.92036677
7MYC_18555785_ChIP-Seq_MESCs_Mouse2.64665855
8DROSHA_22980978_ChIP-Seq_HELA_Human2.63712690
9NCOR1_26117541_ChIP-Seq_K562_Human2.60467176
10EGR1_19374776_ChIP-ChIP_THP-1_Human2.50995167
11EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.48043713
12SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.37383227
13ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.36666921
14EP300_21415370_ChIP-Seq_HL-1_Mouse2.36381104
15* GATA2_19941826_ChIP-Seq_K562_Human2.31497268
16* RARB_27405468_Chip-Seq_BRAIN_Mouse2.31071293
17THAP11_20581084_ChIP-Seq_MESCs_Mouse2.27991316
18SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.20044188
19E2F4_17652178_ChIP-ChIP_JURKAT_Human2.17348039
20XRN2_22483619_ChIP-Seq_HELA_Human2.16521902
21RNF2_18974828_ChIP-Seq_MESCs_Mouse2.15605930
22EZH2_18974828_ChIP-Seq_MESCs_Mouse2.15605930
23RBPJ_22232070_ChIP-Seq_NCS_Mouse2.13450460
24MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.12322317
25MYC_18358816_ChIP-ChIP_MESCs_Mouse2.11843586
26MTF2_20144788_ChIP-Seq_MESCs_Mouse2.10672775
27JARID2_20064375_ChIP-Seq_MESCs_Mouse2.09760192
28MYC_22102868_ChIP-Seq_BL_Human2.08512954
29SCL_19346495_ChIP-Seq_HPC-7_Human2.06359445
30REST_21632747_ChIP-Seq_MESCs_Mouse2.04862752
31* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.03387251
32EZH2_27294783_Chip-Seq_ESCs_Mouse2.03347661
33MYC_19079543_ChIP-ChIP_MESCs_Mouse2.00891421
34EZH2_27304074_Chip-Seq_ESCs_Mouse2.00846519
35JARID2_20075857_ChIP-Seq_MESCs_Mouse2.00499872
36SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.96480770
37REST_18959480_ChIP-ChIP_MESCs_Mouse1.93880847
38STAT6_21828071_ChIP-Seq_BEAS2B_Human1.92872549
39CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.88285136
40* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.88116765
41* TBX20_22080862_ChIP-Seq_HEART_Mouse1.83590947
42* TBX20_22328084_ChIP-Seq_HEART_Mouse1.83590947
43TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.83411922
44* SUZ12_27294783_Chip-Seq_ESCs_Mouse1.83298331
45CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.82530509
46ETS1_20019798_ChIP-Seq_JURKAT_Human1.82296947
47* KDM2B_26808549_Chip-Seq_K562_Human1.82222000
48RNF2_27304074_Chip-Seq_ESCs_Mouse1.79948029
49FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.79574893
50CREB1_15753290_ChIP-ChIP_HEK293T_Human1.76736323
51MYC_19030024_ChIP-ChIP_MESCs_Mouse1.72773019
52POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.71286895
53CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.70773125
54TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.68176050
55* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.67482681
56KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.64966230
57* DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.62843352
58JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.62158734
59MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.62010027
60ZNF263_19887448_ChIP-Seq_K562_Human1.60601714
61* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.59745626
62SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.58613097
63SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.57575614
64KDM2B_26808549_Chip-Seq_SUP-B15_Human1.55958573
65E2F1_21310950_ChIP-Seq_MCF-7_Human1.51963216
66TTF2_22483619_ChIP-Seq_HELA_Human1.51200909
67WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.50314311
68CIITA_25753668_ChIP-Seq_RAJI_Human1.49013153
69PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.47085728
70DNAJC2_21179169_ChIP-ChIP_NT2_Human1.46983200
71* KDM2B_26808549_Chip-Seq_DND41_Human1.46861490
72YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.46588344
73KDM5A_27292631_Chip-Seq_BREAST_Human1.44321596
74EED_16625203_ChIP-ChIP_MESCs_Mouse1.43639495
75ZNF274_21170338_ChIP-Seq_K562_Hela1.43307507
76* NR3C1_23031785_ChIP-Seq_PC12_Mouse1.42855571
77CTCF_27219007_Chip-Seq_Bcells_Human1.42823725
78ZFX_18555785_ChIP-Seq_MESCs_Mouse1.42578165
79DCP1A_22483619_ChIP-Seq_HELA_Human1.41942264
80MYCN_18555785_ChIP-Seq_MESCs_Mouse1.41165898
81* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.40944789
82TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.40333030
83PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.38910235
84ESR1_20079471_ChIP-ChIP_T-47D_Human1.38375729
85GATA1_19941827_ChIP-Seq_MEL_Mouse1.36846759
86SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.36148490
87CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.36070788
88NELFA_20434984_ChIP-Seq_ESCs_Mouse1.35058032
89* LXR_22292898_ChIP-Seq_THP-1_Human1.33599474
90OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.32721560
91GATA1_22383799_ChIP-Seq_G1ME_Mouse1.32683949
92CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.31865218
93PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.31289763
94SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.31078915
95RING1B_27294783_Chip-Seq_ESCs_Mouse1.31060018
96* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.29773955
97VDR_21846776_ChIP-Seq_THP-1_Human1.28956739
98GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.28605146
99* KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.28038422
100IKZF1_21737484_ChIP-ChIP_HCT116_Human1.26216760
101* CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.25058857
102YY1_21170310_ChIP-Seq_MESCs_Mouse1.24885072
103EST1_17652178_ChIP-ChIP_JURKAT_Human1.24722672
104NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.24620388
105* TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.23998756
106KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.23827604
107SRF_21415370_ChIP-Seq_HL-1_Mouse1.23205044
108ZFP281_27345836_Chip-Seq_ESCs_Mouse1.22818301
109TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.22495276
110PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.22486107
111GBX2_23144817_ChIP-Seq_PC3_Human1.22249771
112CDX2_19796622_ChIP-Seq_MESCs_Mouse1.21392033
113E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.20110324
114* MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.20071549
115* AR_19668381_ChIP-Seq_PC3_Human1.19840605
116ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.18702852
117ERG_21242973_ChIP-ChIP_JURKAT_Human1.18564805
118GATA3_20176728_ChIP-ChIP_TSCs_Mouse1.17967326
119BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.17602879
120ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.15457751
121GABP_19822575_ChIP-Seq_HepG2_Human1.14652456
122* SOX2_21211035_ChIP-Seq_LN229_Gbm1.14423996
123* CREB1_26743006_Chip-Seq_LNCaP_Human1.11454464
124ISL1_27105846_Chip-Seq_CPCs_Mouse1.11330249
125ELF1_20517297_ChIP-Seq_JURKAT_Human1.11169775
126KLF4_18555785_ChIP-Seq_MESCs_Mouse1.10841106
127CTCF_27219007_Chip-Seq_ERYTHROID_Human1.10440713
128* ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.08524287
129SMC4_20622854_ChIP-Seq_HELA_Human1.08436421
130E2F1_18555785_ChIP-Seq_MESCs_Mouse1.08249908
131ESR2_21235772_ChIP-Seq_MCF-7_Human1.07779043
132SMAD4_21741376_ChIP-Seq_HESCs_Human1.07321794
133SRY_22984422_ChIP-ChIP_TESTIS_Rat1.07275279
134TET1_21490601_ChIP-Seq_MESCs_Mouse1.07061739
135NANOG_18555785_ChIP-Seq_MESCs_Mouse1.05904441
136NANOG_21062744_ChIP-ChIP_HESCs_Human1.04211169
137TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.03894519
138* KDM2B_26808549_Chip-Seq_JURKAT_Human1.02939476
139THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.02846492
140STAT3_1855785_ChIP-Seq_MESCs_Mouse1.02648388
141BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.02610725
142* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.00323120
143P68_20966046_ChIP-Seq_HELA_Human1.00296648
144* TBX5_21415370_ChIP-Seq_HL-1_Mouse1.00052569
145MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.99360853
146AR_21909140_ChIP-Seq_LNCAP_Human0.99213832
147DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.98620806
148SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.98184405
149OCT4_19829295_ChIP-Seq_ESCs_Human0.97517441
150FOXP3_21729870_ChIP-Seq_TREG_Human0.97505555
151RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.97382612
152SMAD4_21799915_ChIP-Seq_A2780_Human0.97370047
153* KLF4_19829295_ChIP-Seq_ESCs_Human0.97133891
154SPI1_23127762_ChIP-Seq_K562_Human0.96765052
155ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.96445934
156* RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.96364130
157RING1B_27294783_Chip-Seq_NPCs_Mouse0.95970498
158* TP63_22573176_ChIP-Seq_HFKS_Human0.93730627
159SA1_27219007_Chip-Seq_ERYTHROID_Human0.92652404
160AHR_22903824_ChIP-Seq_MCF-7_Human0.92330035
161TCF7_22412390_ChIP-Seq_EML_Mouse0.92269126
162KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.91940334
163YAP1_20516196_ChIP-Seq_MESCs_Mouse0.91565517
164CHD1_19587682_ChIP-ChIP_MESCs_Mouse0.91452086
165CTNNB1_20460455_ChIP-Seq_HCT116_Human0.91099238
166CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.90895339
167MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.90430572
168MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.90369900
169SMAD3_21741376_ChIP-Seq_HESCs_Human0.90285333
170KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.89515273
171RUNX1_27514584_Chip-Seq_MCF-7_Human0.88253372
172ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.87200728
173ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.86769492
174CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.86444599
175* GATA1_19941826_ChIP-Seq_K562_Human0.86136850
176GATA4_21415370_ChIP-Seq_HL-1_Mouse0.85938546
177CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.83712227
178ELK3_25401928_ChIP-Seq_HUVEC_Human0.82735985
179TP53_23651856_ChIP-Seq_MEFs_Mouse0.82697332
180SMAD3_21741376_ChIP-Seq_ESCs_Human0.82037206
181TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.81264719
182ZNF217_24962896_ChIP-Seq_MCF-7_Human0.80979513

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004147_increased_porphyrin_level8.02799935
2MP0003656_abnormal_erythrocyte_physiolo5.72080056
3MP0002837_dystrophic_cardiac_calcinosis5.50520125
4MP0004084_abnormal_cardiac_muscle4.89947448
5MP0000751_myopathy3.96871080
6MP0004215_abnormal_myocardial_fiber3.82598341
7MP0004036_abnormal_muscle_relaxation3.64122842
8MP0003646_muscle_fatigue3.38477904
9MP0005083_abnormal_biliary_tract2.95781239
10MP0008995_early_reproductive_senescence2.91891319
11MP0002909_abnormal_adrenal_gland2.78451858
12MP0005330_cardiomyopathy2.68057202
13MP0003137_abnormal_impulse_conducting2.63113760
14MP0001545_abnormal_hematopoietic_system2.62442688
15MP0005397_hematopoietic_system_phenotyp2.62442688
16MP0003111_abnormal_nucleus_morphology2.62346335
17MP0004859_abnormal_synaptic_plasticity2.45959989
18MP0002972_abnormal_cardiac_muscle2.37295116
19MP0008775_abnormal_heart_ventricle2.37075115
20MP0000749_muscle_degeneration2.27044945
21MP0003283_abnormal_digestive_organ2.25423550
22MP0004087_abnormal_muscle_fiber2.16546600
23MP0004957_abnormal_blastocyst_morpholog2.07800300
24* MP0004085_abnormal_heartbeat2.07325473
25MP0004233_abnormal_muscle_weight2.05194457
26MP0005620_abnormal_muscle_contractility2.01853987
27MP0010094_abnormal_chromosome_stability2.00633212
28MP0009780_abnormal_chondrocyte_physiolo1.91384622
29MP0000013_abnormal_adipose_tissue1.88107668
30MP0006138_congestive_heart_failure1.86126267
31MP0010630_abnormal_cardiac_muscle1.83622459
32MP0003122_maternal_imprinting1.83488194
33MP0001529_abnormal_vocalization1.81127269
34MP0003635_abnormal_synaptic_transmissio1.78249423
35* MP0001544_abnormal_cardiovascular_syste1.76551209
36* MP0005385_cardiovascular_system_phenoty1.76551209
37MP0008058_abnormal_DNA_repair1.76098875
38MP0003693_abnormal_embryo_hatching1.74408057
39MP0002269_muscular_atrophy1.73975256
40MP0004130_abnormal_muscle_cell1.73184385
41MP0004270_analgesia1.70118141
42MP0002234_abnormal_pharynx_morphology1.69724201
43MP0000678_abnormal_parathyroid_gland1.69651612
44MP0004484_altered_response_of1.65285969
45MP0005636_abnormal_mineral_homeostasis1.63236643
46MP0008961_abnormal_basal_metabolism1.57019247
47MP0009278_abnormal_bone_marrow1.56995886
48* MP0002106_abnormal_muscle_physiology1.56547273
49MP0000750_abnormal_muscle_regeneration1.56215842
50MP0003077_abnormal_cell_cycle1.52133506
51MP0000747_muscle_weakness1.51950698
52MP0005451_abnormal_body_composition1.48809361
53MP0002396_abnormal_hematopoietic_system1.46717735
54MP0004858_abnormal_nervous_system1.44643382
55MP0001730_embryonic_growth_arrest1.40745727
56MP0008057_abnormal_DNA_replication1.40348917
57MP0004043_abnormal_pH_regulation1.39745916
58MP0008932_abnormal_embryonic_tissue1.39004387
59MP0000759_abnormal_skeletal_muscle1.34208979
60MP0006035_abnormal_mitochondrial_morpho1.31588175
61MP0004510_myositis1.31505247
62MP0006072_abnormal_retinal_apoptosis1.30641978
63* MP0005369_muscle_phenotype1.30179977
64MP0000003_abnormal_adipose_tissue1.29024098
65MP0003880_abnormal_central_pattern1.28452426
66MP0002127_abnormal_cardiovascular_syste1.28238607
67MP0009046_muscle_twitch1.26722921
68MP0002272_abnormal_nervous_system1.24189139
69MP0002063_abnormal_learning/memory/cond1.23155142
70MP0003221_abnormal_cardiomyocyte_apopto1.20127508
71MP0002064_seizures1.18877372
72MP0005623_abnormal_meninges_morphology1.17462078
73MP0009697_abnormal_copulation1.17169199
74MP0009745_abnormal_behavioral_response1.15777588
75MP0008569_lethality_at_weaning1.15097016
76MP0002638_abnormal_pupillary_reflex1.12362374
77* MP0002080_prenatal_lethality1.11027833
78MP0003828_pulmonary_edema1.10969472
79MP0002734_abnormal_mechanical_nocicepti1.10563584
80MP0003786_premature_aging1.09779500
81MP0002009_preneoplasia1.05500318
82MP0002877_abnormal_melanocyte_morpholog1.04019355
83MP0003984_embryonic_growth_retardation1.02797461
84MP0001672_abnormal_embryogenesis/_devel1.01165430
85MP0005380_embryogenesis_phenotype1.01165430
86MP0005187_abnormal_penis_morphology1.00595670
87MP0005423_abnormal_somatic_nervous1.00545692
88MP0003186_abnormal_redox_activity1.00487341
89* MP0001697_abnormal_embryo_size0.99977378
90MP0002733_abnormal_thermal_nociception0.99884546
91* MP0004145_abnormal_muscle_electrophysio0.99870355
92MP0000313_abnormal_cell_death0.99013115
93MP0002088_abnormal_embryonic_growth/wei0.98157737
94MP0001661_extended_life_span0.97574073
95MP0001970_abnormal_pain_threshold0.97308154
96MP0005646_abnormal_pituitary_gland0.96148931
97MP0004924_abnormal_behavior0.95819590
98MP0005386_behavior/neurological_phenoty0.95819590
99MP0002735_abnormal_chemical_nociception0.95731207
100MP0000350_abnormal_cell_proliferation0.95719308
101MP0002572_abnormal_emotion/affect_behav0.95443637
102MP0003787_abnormal_imprinting0.94173897
103MP0005375_adipose_tissue_phenotype0.94164438
104MP0002184_abnormal_innervation0.93869536
105MP0004885_abnormal_endolymph0.93461890
106MP0004811_abnormal_neuron_physiology0.91589798
107MP0002067_abnormal_sensory_capabilities0.91423667
108MP0002132_abnormal_respiratory_system0.91002607
109MP0008007_abnormal_cellular_replicative0.90626436
110MP0001984_abnormal_olfaction0.90393650
111MP0001727_abnormal_embryo_implantation0.89886859
112MP0002078_abnormal_glucose_homeostasis0.89787045
113MP0002693_abnormal_pancreas_physiology0.89618500
114MP0000955_abnormal_spinal_cord0.88605125
115MP0002822_catalepsy0.88275872
116MP0003329_amyloid_beta_deposits0.87794676
117MP0001486_abnormal_startle_reflex0.87720265
118MP0005220_abnormal_exocrine_pancreas0.86658661
119* MP0000266_abnormal_heart_morphology0.84437892
120MP0001944_abnormal_pancreas_morphology0.84418679
121MP0001968_abnormal_touch/_nociception0.84151352
122MP0005670_abnormal_white_adipose0.83586978
123MP0000230_abnormal_systemic_arterial0.82466659
124MP0006276_abnormal_autonomic_nervous0.81855063
125MP0003959_abnormal_lean_body0.81073783
126MP0002086_abnormal_extraembryonic_tissu0.80805522
127MP0003879_abnormal_hair_cell0.80525398
128MP0008770_decreased_survivor_rate0.80025108
129MP0003123_paternal_imprinting0.79627385
130MP0002210_abnormal_sex_determination0.76583063
131MP0005645_abnormal_hypothalamus_physiol0.76302968
132MP0005666_abnormal_adipose_tissue0.76112971
133MP0006036_abnormal_mitochondrial_physio0.75900643
134MP0003718_maternal_effect0.73845797
135MP0001502_abnormal_circadian_rhythm0.73434423
136MP0002882_abnormal_neuron_morphology0.73351364
137MP0004808_abnormal_hematopoietic_stem0.72829394
138MP0003698_abnormal_male_reproductive0.72352853
139MP0001440_abnormal_grooming_behavior0.71778610
140MP0005551_abnormal_eye_electrophysiolog0.71754217
141MP0003567_abnormal_fetal_cardiomyocyte0.71488422
142MP0001929_abnormal_gametogenesis0.70781075
143MP0001299_abnormal_eye_distance/0.69112870
144MP0003045_fibrosis0.68825610
145MP0002066_abnormal_motor_capabilities/c0.68059172
146MP0002229_neurodegeneration0.67753845
147MP0010386_abnormal_urinary_bladder0.67295488
148MP0002557_abnormal_social/conspecific_i0.67221697
149MP0009672_abnormal_birth_weight0.66529081
150MP0002084_abnormal_developmental_patter0.66357790
151MP0003633_abnormal_nervous_system0.65876763
152MP0009703_decreased_birth_body0.65774726
153MP0002090_abnormal_vision0.64985772
154MP0005535_abnormal_body_temperature0.63969942

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of the heme biosynthetic pathway (HP:0010472)8.90122861
2Reticulocytosis (HP:0001923)8.34710977
3Cholecystitis (HP:0001082)7.96842622
4Abnormal gallbladder physiology (HP:0012438)7.96842622
5Sudden death (HP:0001699)6.68063750
6Abnormality of reticulocytes (HP:0004312)6.06961487
7Polycythemia (HP:0001901)5.74428804
8Truncus arteriosus (HP:0001660)5.58464081
9Poikilocytosis (HP:0004447)5.49561470
10Cholelithiasis (HP:0001081)5.46051194
11Hyperthyroidism (HP:0000836)5.11175314
12Atrial fibrillation (HP:0005110)5.08789190
13Abnormal gallbladder morphology (HP:0012437)4.95836858
14Primary atrial arrhythmia (HP:0001692)4.83771872
15Ventricular tachycardia (HP:0004756)4.74486672
16Bundle branch block (HP:0011710)4.71727931
17Supraventricular tachycardia (HP:0004755)4.60818797
18Supraventricular arrhythmia (HP:0005115)4.53796916
19Abnormal hemoglobin (HP:0011902)4.39304058
20Calf muscle hypertrophy (HP:0008981)4.14652972
21* Prolonged QT interval (HP:0001657)4.14137114
22* Syncope (HP:0001279)4.10467792
23Abnormality of the left ventricular outflow tract (HP:0011103)4.06355663
24Subaortic stenosis (HP:0001682)4.06355663
25Exercise-induced myalgia (HP:0003738)4.00949890
26Abnormality of the gallbladder (HP:0005264)3.91270916
27Acanthocytosis (HP:0001927)3.85248648
28* Ventricular fibrillation (HP:0001663)3.82855081
29Hyperbilirubinemia (HP:0002904)3.80713616
30Exercise-induced muscle cramps (HP:0003710)3.66878180
31Abnormality of the calf musculature (HP:0001430)3.63344681
32Ileus (HP:0002595)3.61740183
33Muscle hypertrophy of the lower extremities (HP:0008968)3.61568401
34Heart block (HP:0012722)3.51815081
35Hyporeflexia of lower limbs (HP:0002600)3.51029576
36Lipoatrophy (HP:0100578)3.49336498
37* Ventricular arrhythmia (HP:0004308)3.45333077
38Atrioventricular block (HP:0001678)3.41383496
39Abnormal number of erythroid precursors (HP:0012131)3.40087052
40Myoglobinuria (HP:0002913)3.37177175
41Asymmetric septal hypertrophy (HP:0001670)3.36250564
42* Abnormal EKG (HP:0003115)3.31914860
43Pheochromocytoma (HP:0002666)3.28721954
44Muscle fiber splitting (HP:0003555)3.25870741
45Abnormal atrioventricular conduction (HP:0005150)3.24077603
46Right ventricular cardiomyopathy (HP:0011663)3.23592453
47Abnormality of cells of the erythroid lineage (HP:0012130)3.19596430
48Bowel incontinence (HP:0002607)3.15801468
49Elevated circulating parathyroid hormone (PTH) level (HP:0003165)3.15115545
50Hypertensive crisis (HP:0100735)3.09307887
51Hyperinsulinemic hypoglycemia (HP:0000825)3.08413102
52Nonimmune hydrops fetalis (HP:0001790)3.07841572
53Abnormality of the tricuspid valve (HP:0001702)3.06101999
54Pallor (HP:0000980)3.05814318
55Abnormal large intestine physiology (HP:0012700)2.93828575
56Dilated cardiomyopathy (HP:0001644)2.93108263
57Peripheral hypomyelination (HP:0007182)2.92544027
58Hypoparathyroidism (HP:0000829)2.92211714
59Left ventricular hypertrophy (HP:0001712)2.91294454
60Abnormality of homocysteine metabolism (HP:0010919)2.88120826
61Homocystinuria (HP:0002156)2.88120826
62Central scotoma (HP:0000603)2.84901933
63Visual hallucinations (HP:0002367)2.82862020
64Neuroendocrine neoplasm (HP:0100634)2.79990193
65Seborrheic dermatitis (HP:0001051)2.78812252
66Ketoacidosis (HP:0001993)2.77507325
67Myotonia (HP:0002486)2.74445554
68* Palpitations (HP:0001962)2.73968892
69Birth length less than 3rd percentile (HP:0003561)2.72919485
70Large for gestational age (HP:0001520)2.71936204
71EMG: myopathic abnormalities (HP:0003458)2.67810903
72Diaphragmatic weakness (HP:0009113)2.63206005
73Myokymia (HP:0002411)2.60681442
74Dysmetric saccades (HP:0000641)2.58356227
75Ankyloglossia (HP:0010296)2.55320873
76Difficulty running (HP:0009046)2.54977762
77Cortical dysplasia (HP:0002539)2.50504148
78Atelectasis (HP:0100750)2.47177402
79Paralysis (HP:0003470)2.45541828
80Hypercortisolism (HP:0001578)2.42677905
81Hypoglycemic coma (HP:0001325)2.38708937
82Depression (HP:0000716)2.38601955
83Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.38082141
84Orthostatic hypotension (HP:0001278)2.37062706
85Abnormality of glycolysis (HP:0004366)2.31195763
86Limb hypertonia (HP:0002509)2.28705202
87Pancreatic islet-cell hyperplasia (HP:0004510)2.26163832
88EMG: neuropathic changes (HP:0003445)2.19778796
89Neoplasm of the heart (HP:0100544)2.19662844
90Difficulty climbing stairs (HP:0003551)2.19497865
91Insomnia (HP:0100785)2.17816846
92Hyperacusis (HP:0010780)2.17791946
93Supranuclear gaze palsy (HP:0000605)2.16340729
94Hypochromic microcytic anemia (HP:0004840)2.14861359
95Short middle phalanx of the 5th finger (HP:0004220)2.13508197
96Ankle clonus (HP:0011448)2.12107160
97Action tremor (HP:0002345)2.10177817
98Acute myeloid leukemia (HP:0004808)2.06934253
99Testicular neoplasm (HP:0010788)2.06868091
100Abnormality of cochlea (HP:0000375)2.06226436
101Increased variability in muscle fiber diameter (HP:0003557)2.05311075
102Hamartoma of the eye (HP:0010568)2.02560585
103Increased connective tissue (HP:0009025)2.01277992
104Increased serum pyruvate (HP:0003542)1.99939609
105Hypoglycemic seizures (HP:0002173)1.99214132
106Focal seizures (HP:0007359)1.98048520
107Abnormality of endocrine pancreas physiology (HP:0012093)1.97383771
108Abnormality of the pancreatic islet cells (HP:0006476)1.97383771
109Aplasia/Hypoplasia of the earlobes (HP:0009906)1.97382087
110Limb-girdle muscle atrophy (HP:0003797)1.96946048
111Mildly elevated creatine phosphokinase (HP:0008180)1.96394635
112Abnormality of the foot musculature (HP:0001436)1.96060219
113Insulin-resistant diabetes mellitus (HP:0000831)1.95515710
114Focal motor seizures (HP:0011153)1.95205711
115Neoplasm of the peripheral nervous system (HP:0100007)1.94780055
116Abnormality of the fingertips (HP:0001211)1.94287898
117Rapidly progressive (HP:0003678)1.91109069
118Lymphangioma (HP:0100764)1.90987060
119Microcytic anemia (HP:0001935)1.90977100
120Cerebral palsy (HP:0100021)1.90613753
121Hypoventilation (HP:0002791)1.88844065
122Hyperglycemia (HP:0003074)1.88343004
123Bradycardia (HP:0001662)1.86905809
124Abnormally folded helix (HP:0008544)1.86902840
125Failure to thrive in infancy (HP:0001531)1.84500340
126Abnormality of the vocal cords (HP:0008777)1.82509740
127Decreased circulating renin level (HP:0003351)1.81372221
128Scotoma (HP:0000575)1.80974536
129Muscle stiffness (HP:0003552)1.80002588
130Foot dorsiflexor weakness (HP:0009027)1.79842383
131Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.79704262
132Disproportionate tall stature (HP:0001519)1.79578099
133Anxiety (HP:0000739)1.78600902
134Testicular atrophy (HP:0000029)1.78572491
135* Sudden cardiac death (HP:0001645)1.77872303
136Elfin facies (HP:0004428)1.76254650
137Abnormality of the lower motor neuron (HP:0002366)1.76134985
138Agitation (HP:0000713)1.76014899
139Abnormality of calcium-phosphate metabolism (HP:0100530)1.74044459
140Upper limb muscle weakness (HP:0003484)1.73898941
141Cerebral aneurysm (HP:0004944)1.73184787
142Macroorchidism (HP:0000053)1.72168118
143Athetosis (HP:0002305)1.70022465
144Ragged-red muscle fibers (HP:0003200)1.69911489
145Distal upper limb amyotrophy (HP:0007149)1.69744696
146Upper limb amyotrophy (HP:0009129)1.69744696
147Papilledema (HP:0001085)1.69548335
148Increased nuchal translucency (HP:0010880)1.69446675
149Attention deficit hyperactivity disorder (HP:0007018)1.68443585
150Obsessive-compulsive behavior (HP:0000722)1.67902262
151Cerebral hypomyelination (HP:0006808)1.67490714
152Morphological abnormality of the inner ear (HP:0011390)1.67443628
153Proximal amyotrophy (HP:0007126)1.66745494
154Late onset (HP:0003584)1.65332737
155Rhabdomyolysis (HP:0003201)1.65056788
156Centrally nucleated skeletal muscle fibers (HP:0003687)1.64143861
157Generalized tonic-clonic seizures (HP:0002069)1.64092897
158Congestive heart failure (HP:0001635)1.63559013
159Patellar dislocation (HP:0002999)1.60693618
160Chromsome breakage (HP:0040012)1.60461531
161Gastrointestinal dysmotility (HP:0002579)1.59024565
162Flat cornea (HP:0007720)1.56802426
163Decreased number of peripheral myelinated nerve fibers (HP:0003380)1.56553254
164Abnormality of oral frenula (HP:0000190)1.53911182
165Abnormality of the parathyroid morphology (HP:0011766)1.51993507
166Tinnitus (HP:0000360)1.49723054
167Cheekbone underdevelopment (HP:0010669)1.48544967
168Chromosomal breakage induced by crosslinking agents (HP:0003221)1.48190534
169Venous insufficiency (HP:0005293)1.48184609
170Septate vagina (HP:0001153)1.45894927
171Deep palmar crease (HP:0006191)1.44743208
172Decreased motor nerve conduction velocity (HP:0003431)1.44252846
173Impaired proprioception (HP:0010831)1.42498408
174Cutaneous photosensitivity (HP:0000992)1.42383697
175Prolonged bleeding time (HP:0003010)1.42135096
176Sandal gap (HP:0001852)1.41203812
177Double outlet right ventricle (HP:0001719)1.40840779
178Congenital malformation of the right heart (HP:0011723)1.40840779
179Overlapping toe (HP:0001845)1.37556176
180Hyponatremia (HP:0002902)1.35433513
181Pointed chin (HP:0000307)1.34843753
182Overfolded helix (HP:0000396)1.34153530
183Complete atrioventricular canal defect (HP:0001674)1.33363772
184Abnormality of iron homeostasis (HP:0011031)1.32868026

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EIF2AK14.82825791
2EEF2K3.63056600
3LMTK23.51580052
4PHKG23.04072939
5PHKG13.04072939
6PRPF4B2.96324201
7TRIB32.95617263
8PKN22.87065961
9CLK12.84885600
10TTN2.75720090
11PRKD32.74814025
12TTK2.62798681
13NEK12.56073475
14RIPK42.52129313
15NTRK32.45575902
16RAF12.26603765
17MYLK2.22056651
18CDC72.17606838
19DMPK2.08397001
20PAK61.97077013
21INSRR1.96802722
22MAP3K41.96232658
23PAK31.87270914
24CDC42BPA1.78203725
25RIPK11.77794226
26PDK31.77584193
27PDK41.77584193
28CDK121.75923925
29MAP3K91.74287550
30UHMK11.70597284
31PLK41.68724815
32STK381.65269782
33WNK41.64213182
34WNK11.60764637
35KSR21.57238652
36MINK11.54726576
37NME11.49897339
38MAP3K81.48748548
39PDGFRA1.48088524
40BUB11.44863313
41NTRK11.42479530
42PINK11.40326968
43STK41.38419435
44CAMKK11.37658204
45TAOK21.34526174
46OBSCN1.27356634
47MARK11.26302807
48BRAF1.24628222
49RET1.18618851
50NEK21.17861757
51PRKCH1.17128138
52BMX1.16288556
53BRSK11.16138615
54ICK1.16071421
55PRKD11.14367901
56CAMK2D1.12902131
57TSSK61.11730737
58MAP3K11.06809572
59TRPM71.04962489
60SIK21.04915330
61WEE11.04024496
62RPS6KB21.00967165
63CHEK20.99491503
64JAK20.93663446
65STK240.93614928
66MAP3K20.92423152
67CCNB10.92027936
68PRKAA10.91579770
69MAP2K40.91248047
70CAMK10.90952547
71CHEK10.90718549
72ATR0.90168117
73MAP3K70.89083364
74MAP2K10.88720183
75SCYL20.88160185
76CDK20.86563991
77NME20.85715986
78HIPK20.85499025
79CDK10.84964466
80WNK30.84674963
81MAP3K60.84112947
82MUSK0.83529500
83TIE10.80830464
84MAPKAPK50.79654173
85CDK50.78994966
86LATS20.78740723
87CAMKK20.78597500
88ILK0.77926623
89DYRK30.77704064
90FER0.77487488
91ATM0.77318365
92MAP2K20.76906507
93PTK60.76308063
94ALK0.75772751
95TAOK10.75692851
96DAPK20.75337284
97SMG10.73999463
98TYRO30.73907311
99CAMK40.73759522
100NTRK20.72575084
101CAMK1D0.72456013
102CAMK1G0.70979462
103SRPK10.70436244
104RPS6KA20.69516082
105BMPR20.69471636
106CAMK2A0.69365358
107FLT30.68263862
108MAPK120.66770715
109KSR10.63109002
110PDK20.61422390
111BCKDK0.61404335
112MARK20.61348345
113DAPK30.60799515
114GSK3B0.59996738
115CDK11A0.59560197
116SGK30.58891200
117CSNK1E0.57853808
118PIK3CA0.57186755
119PTK20.57037294
120CDK150.56803398
121* ROCK10.55895649
122EPHA40.55136349
123SGK2230.54575030
124SGK4940.54575030
125PRKD20.53755387
126MAP2K70.53083006
127PDPK10.53033409
128PAK20.52954501
129PRKDC0.52750357
130PAK10.52181789
131PLK10.51993572
132STK110.51955759
133MTOR0.51685371
134MAP3K100.50572973
135MAPK140.50086600
136ROCK20.49653064
137AKT20.49574885
138PIM10.49519635
139CSNK2A20.48958924
140IRAK30.48699101
141CDK180.48237029
142PDK10.47803568
143CDK140.47369873
144* AKT10.46735721
145GRK50.46174943
146MAP2K30.45462787
147PASK0.44893506
148MAPK30.44690003
149PRKCE0.44059092
150* RPS6KA30.43736745
151CDK40.43040676
152RPS6KA50.42413271
153PRKACB0.42159341
154PLK30.41377249
155MATK0.41147008
156MAPK130.41068784
157GRK70.40499024
158* PRKACG0.40164829
159MAPK150.39967637
160MAPKAPK30.39944794
161DYRK20.39299056
162PRKCG0.38578828
163PTK2B0.37731829
164* PRKACA0.36390769
165MAP3K50.36258795
166MAPK100.35051285
167SGK10.35028348

Predicted pathways (KEGG)

RankGene SetZ-score
1Butirosin and neomycin biosynthesis_Homo sapiens_hsa005244.77277686
2Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.46903676
3Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008602.88055499
4Cardiac muscle contraction_Homo sapiens_hsa042602.85464308
5DNA replication_Homo sapiens_hsa030302.81603119
6Dilated cardiomyopathy_Homo sapiens_hsa054142.74316317
7Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.72962142
8Insulin secretion_Homo sapiens_hsa049112.43436265
9Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042612.33343597
10Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.31581727
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.21641542
12One carbon pool by folate_Homo sapiens_hsa006702.14397572
132-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.06476394
14Mismatch repair_Homo sapiens_hsa034302.02423141
15Type II diabetes mellitus_Homo sapiens_hsa049301.93063119
16Circadian entrainment_Homo sapiens_hsa047131.88419785
17Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.84271901
18Synaptic vesicle cycle_Homo sapiens_hsa047211.80311337
19Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.78117484
20Olfactory transduction_Homo sapiens_hsa047401.77949645
21Cell cycle_Homo sapiens_hsa041101.76921600
22GABAergic synapse_Homo sapiens_hsa047271.73701159
23Biosynthesis of amino acids_Homo sapiens_hsa012301.69825183
24Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.65226826
25Aldosterone synthesis and secretion_Homo sapiens_hsa049251.63597806
26Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.53238614
27Maturity onset diabetes of the young_Homo sapiens_hsa049501.51967943
28cGMP-PKG signaling pathway_Homo sapiens_hsa040221.51608989
29Morphine addiction_Homo sapiens_hsa050321.50227605
30RNA transport_Homo sapiens_hsa030131.47413914
31Long-term potentiation_Homo sapiens_hsa047201.46291147
32Gastric acid secretion_Homo sapiens_hsa049711.46068367
33Renin secretion_Homo sapiens_hsa049241.45146595
34Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.43845105
35Dopaminergic synapse_Homo sapiens_hsa047281.42752379
36Spliceosome_Homo sapiens_hsa030401.42689893
37Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.42337038
38mRNA surveillance pathway_Homo sapiens_hsa030151.40977079
39Cholinergic synapse_Homo sapiens_hsa047251.40906340
40Amphetamine addiction_Homo sapiens_hsa050311.40695271
41Homologous recombination_Homo sapiens_hsa034401.40015856
42Base excision repair_Homo sapiens_hsa034101.38982933
43Taste transduction_Homo sapiens_hsa047421.34723831
44Oxytocin signaling pathway_Homo sapiens_hsa049211.34635975
45Glucagon signaling pathway_Homo sapiens_hsa049221.27158451
46Glutamatergic synapse_Homo sapiens_hsa047241.26958279
47Salivary secretion_Homo sapiens_hsa049701.26875094
48cAMP signaling pathway_Homo sapiens_hsa040241.25344173
49Nicotine addiction_Homo sapiens_hsa050331.25207966
50Cocaine addiction_Homo sapiens_hsa050301.22884942
51Calcium signaling pathway_Homo sapiens_hsa040201.21737709
52Ribosome_Homo sapiens_hsa030101.20678146
53Acute myeloid leukemia_Homo sapiens_hsa052211.19012182
54Vascular smooth muscle contraction_Homo sapiens_hsa042701.12312304
55Chronic myeloid leukemia_Homo sapiens_hsa052201.12027952
56Estrogen signaling pathway_Homo sapiens_hsa049151.09898774
57Thyroid hormone signaling pathway_Homo sapiens_hsa049191.09655683
58Nucleotide excision repair_Homo sapiens_hsa034201.09576121
59Gap junction_Homo sapiens_hsa045401.08165633
60Insulin signaling pathway_Homo sapiens_hsa049101.06435132
61GnRH signaling pathway_Homo sapiens_hsa049121.06012852
62Dorso-ventral axis formation_Homo sapiens_hsa043201.05847560
63Sulfur relay system_Homo sapiens_hsa041221.05590698
64Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.00626487
65Pancreatic secretion_Homo sapiens_hsa049720.99705148
66Insulin resistance_Homo sapiens_hsa049310.98958230
67Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.98730487
68Carbohydrate digestion and absorption_Homo sapiens_hsa049730.97170241
69Fanconi anemia pathway_Homo sapiens_hsa034600.97053052
70Parkinsons disease_Homo sapiens_hsa050120.97019178
71Non-small cell lung cancer_Homo sapiens_hsa052230.95483409
72Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.94151384
73mTOR signaling pathway_Homo sapiens_hsa041500.89700509
74Carbon metabolism_Homo sapiens_hsa012000.88151954
75Circadian rhythm_Homo sapiens_hsa047100.87760802
76Fructose and mannose metabolism_Homo sapiens_hsa000510.87150351
77Pentose phosphate pathway_Homo sapiens_hsa000300.86987877
78Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.85158880
79Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.84634409
80Propanoate metabolism_Homo sapiens_hsa006400.84028951
81Central carbon metabolism in cancer_Homo sapiens_hsa052300.83229495
82Alzheimers disease_Homo sapiens_hsa050100.82992392
83Longevity regulating pathway - mammal_Homo sapiens_hsa042110.82949878
84Thyroid cancer_Homo sapiens_hsa052160.82515234
85Phosphatidylinositol signaling system_Homo sapiens_hsa040700.80940042
86Serotonergic synapse_Homo sapiens_hsa047260.78354562
87Fatty acid degradation_Homo sapiens_hsa000710.78118297
88Fatty acid elongation_Homo sapiens_hsa000620.77293820
89Melanogenesis_Homo sapiens_hsa049160.77185614
90Fatty acid metabolism_Homo sapiens_hsa012120.75623808
91Cysteine and methionine metabolism_Homo sapiens_hsa002700.75111548
92Arginine biosynthesis_Homo sapiens_hsa002200.71663222
93Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.69511978
94Thyroid hormone synthesis_Homo sapiens_hsa049180.69254002
95AMPK signaling pathway_Homo sapiens_hsa041520.68659374
96Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.68629640
97Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.66371248
98Steroid biosynthesis_Homo sapiens_hsa001000.65816934
99Nitrogen metabolism_Homo sapiens_hsa009100.65312818
100Adipocytokine signaling pathway_Homo sapiens_hsa049200.64884567
101Glioma_Homo sapiens_hsa052140.63959641
102Purine metabolism_Homo sapiens_hsa002300.63610570
103Oxidative phosphorylation_Homo sapiens_hsa001900.61484139
104Phospholipase D signaling pathway_Homo sapiens_hsa040720.61015764
105Neurotrophin signaling pathway_Homo sapiens_hsa047220.60171216
106Basal transcription factors_Homo sapiens_hsa030220.59514235
107Viral myocarditis_Homo sapiens_hsa054160.58877956
108Endometrial cancer_Homo sapiens_hsa052130.58788941
109Prion diseases_Homo sapiens_hsa050200.58691734
110Long-term depression_Homo sapiens_hsa047300.58523503
111Vibrio cholerae infection_Homo sapiens_hsa051100.57934608
112Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.57064873
113Oocyte meiosis_Homo sapiens_hsa041140.56760779
114Tight junction_Homo sapiens_hsa045300.56070605
115VEGF signaling pathway_Homo sapiens_hsa043700.55919077
116Focal adhesion_Homo sapiens_hsa045100.55087824
117Ovarian steroidogenesis_Homo sapiens_hsa049130.54910886
118Type I diabetes mellitus_Homo sapiens_hsa049400.54662114
119Pancreatic cancer_Homo sapiens_hsa052120.53465498
120Renal cell carcinoma_Homo sapiens_hsa052110.53332529
121Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.53089938
122Lysine degradation_Homo sapiens_hsa003100.52123383
123ErbB signaling pathway_Homo sapiens_hsa040120.52087031
124Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.50822770
125Inositol phosphate metabolism_Homo sapiens_hsa005620.50537461
126Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.50432158
127Huntingtons disease_Homo sapiens_hsa050160.50151107
128Butanoate metabolism_Homo sapiens_hsa006500.50003242
129Pyruvate metabolism_Homo sapiens_hsa006200.48520144
130Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.48062571
131Axon guidance_Homo sapiens_hsa043600.48019658
132MAPK signaling pathway_Homo sapiens_hsa040100.47237314
133Fatty acid biosynthesis_Homo sapiens_hsa000610.46957331
134Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.44389818
135Pyrimidine metabolism_Homo sapiens_hsa002400.43819997
136HIF-1 signaling pathway_Homo sapiens_hsa040660.43784544
137Bile secretion_Homo sapiens_hsa049760.42863993
138Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.41675448
139Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.38787134
140Prolactin signaling pathway_Homo sapiens_hsa049170.38265599
141Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.35923785

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