TRPM5

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





Description: This gene encodes a member of the transient receptor potential (TRP) protein family, which is a diverse group of proteins with structural features typical of ion channels. This protein plays an important role in taste transduction, and has characteristics of a calcium-activated, non-selective cation channel that carries Na+, K+, and Cs+ ions equally well, but not Ca(2+) ions. It is activated by lower concentrations of intracellular Ca(2+), and inhibited by higher concentrations. It is also a highly temperature-sensitive, heat activated channel showing a steep increase of inward currents at temperatures between 15 and 35 degrees Celsius. This gene is located within the Beckwith-Wiedemann syndrome critical region-1 on chromosome 11p15.5, and has been shown to be imprinted, with exclusive expression from the paternal allele. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)8.30307615
2protein maturation by protein folding (GO:0022417)8.24704458
3endocrine pancreas development (GO:0031018)8.15983499
4synaptic transmission, dopaminergic (GO:0001963)6.88241648
5peptide hormone processing (GO:0016486)6.83905526
6modulation by host of symbiont transcription (GO:0052472)6.83010627
7modulation by host of viral transcription (GO:0043921)6.83010627
8long term synaptic depression (GO:0060292)6.78304955
9glandular epithelial cell differentiation (GO:0002067)6.74104155
10regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022356.70375218
11retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)6.55702697
12modulation of transcription in other organism involved in symbiotic interaction (GO:0052312)6.50433635
13maintenance of protein localization in endoplasmic reticulum (GO:0035437)6.41259012
14COPII vesicle coating (GO:0048208)6.40888035
15regulation of female gonad development (GO:2000194)6.31990683
16regulation of type B pancreatic cell apoptotic process (GO:2000674)6.09625896
17type B pancreatic cell development (GO:0003323)6.02246227
18regulation of systemic arterial blood pressure mediated by a chemical signal (GO:0003044)6.01898328
19endocrine process (GO:0050886)6.01898328
20regulation of systemic arterial blood pressure by hormone (GO:0001990)6.01898328
21negative regulation of translation involved in gene silencing by miRNA (GO:0035278)5.82896657
22negative regulation of translation, ncRNA-mediated (GO:0040033)5.82896657
23regulation of translation, ncRNA-mediated (GO:0045974)5.82896657
24signal peptide processing (GO:0006465)5.82515296
25protein retention in ER lumen (GO:0006621)5.56939738
26regulation of ARF protein signal transduction (GO:0032012)5.47511848
27glandular epithelial cell development (GO:0002068)5.45394548
28exocrine pancreas development (GO:0031017)5.31098172
29activation of signaling protein activity involved in unfolded protein response (GO:0006987)5.30238551
30vesicle targeting (GO:0006903)5.26920489
31negative regulation of viral transcription (GO:0032897)5.26336685
32insulin secretion (GO:0030073)5.25132926
33endothelial cell chemotaxis (GO:0035767)5.22829604
34sequestering of metal ion (GO:0051238)5.21967404
35actin filament capping (GO:0051693)5.18639053
36regulation of hydrogen peroxide metabolic process (GO:0010310)5.07628509
37negative regulation of glial cell proliferation (GO:0060253)5.05669408
38positive regulation of nuclease activity (GO:0032075)5.04448167
39pre-miRNA processing (GO:0031054)5.03405274
40regulation of systemic arterial blood pressure (GO:0003073)4.98308364
41positive regulation of insulin secretion (GO:0032024)4.83823060
42ER overload response (GO:0006983)4.80725362
43vesicle coating (GO:0006901)4.79772172
44* sensory perception of taste (GO:0050909)4.76566011
45negative regulation of glycoprotein biosynthetic process (GO:0010561)4.64426399
46regulation of nuclease activity (GO:0032069)4.60920317
47negative regulation of actin filament depolymerization (GO:0030835)4.60691183
48negative regulation of norepinephrine secretion (GO:0010700)4.58910392
49regulation of insulin secretion (GO:0050796)4.57182627
50columnar/cuboidal epithelial cell development (GO:0002066)4.57064091
51nitric oxide mediated signal transduction (GO:0007263)4.48318956
52endoplasmic reticulum unfolded protein response (GO:0030968)4.42845275
53positive regulation of protein homooligomerization (GO:0032464)4.36338883
54cellular response to monoamine stimulus (GO:0071868)4.33563077
55cellular response to catecholamine stimulus (GO:0071870)4.33563077
56ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)4.33256032
57cellular response to unfolded protein (GO:0034620)4.32052926
58cellular response to vitamin D (GO:0071305)4.30746544
59regulation of peptide hormone secretion (GO:0090276)4.26860286
60cellular response to topologically incorrect protein (GO:0035967)4.21519380
61regulation of peptide secretion (GO:0002791)4.19491274
62ER-nucleus signaling pathway (GO:0006984)4.16698506
63mRNA cleavage (GO:0006379)4.12176294
64histone H3-K36 demethylation (GO:0070544)4.11494572
65regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)4.10216657
66negative regulation of insulin secretion (GO:0046676)4.09900970
67modification by host of symbiont morphology or physiology (GO:0051851)4.05146766
68multicellular organismal reproductive behavior (GO:0033057)4.03176143
69intra-Golgi vesicle-mediated transport (GO:0006891)3.92983606
70negative regulation of catecholamine secretion (GO:0033604)3.90523370
71positive regulation of peptide hormone secretion (GO:0090277)3.90063942
72intestinal epithelial cell development (GO:0060576)3.89092322
73transmission of nerve impulse (GO:0019226)3.84603526
74detection of calcium ion (GO:0005513)3.84027736
75interaction with symbiont (GO:0051702)3.82883297
76dopamine receptor signaling pathway (GO:0007212)3.79603109
77peptide hormone secretion (GO:0030072)3.79285731
78icosanoid secretion (GO:0032309)3.78846455
79arachidonic acid secretion (GO:0050482)3.78846455
80maintenance of gastrointestinal epithelium (GO:0030277)3.76751217
81positive regulation of peptide secretion (GO:0002793)3.75984097
82protein N-linked glycosylation via asparagine (GO:0018279)3.74941844
83peptidyl-asparagine modification (GO:0018196)3.72763248
84peptide secretion (GO:0002790)3.72199553
85termination of G-protein coupled receptor signaling pathway (GO:0038032)3.72056221
86regulation of hormone secretion (GO:0046883)3.67972348
87response to endoplasmic reticulum stress (GO:0034976)3.66395296
88regulation of respiratory burst (GO:0060263)3.63589101
89negative regulation of peptide hormone secretion (GO:0090278)3.58471768
90epithelial cell fate commitment (GO:0072148)3.57574818
91cAMP catabolic process (GO:0006198)3.57394649
92response to monoamine (GO:0071867)3.57107165
93response to catecholamine (GO:0071869)3.57107165
94purine ribonucleoside bisphosphate metabolic process (GO:0034035)3.55712917
953-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)3.55712917
96regulation of ARF GTPase activity (GO:0032312)3.54995436
97cellular zinc ion homeostasis (GO:0006882)3.51967045
98negative regulation of peptide secretion (GO:0002792)3.49515625
99ER to Golgi vesicle-mediated transport (GO:0006888)3.49367516
100toxin metabolic process (GO:0009404)3.49317123
101regulation of peptide transport (GO:0090087)3.47937166
102response to hexose (GO:0009746)3.45210911
103response to unfolded protein (GO:0006986)3.43527467
104negative regulation of glycoprotein metabolic process (GO:1903019)3.42589188
105protein N-linked glycosylation (GO:0006487)3.42409948
106response to glucose (GO:0009749)3.40400669
107cGMP-mediated signaling (GO:0019934)3.39561206
108termination of signal transduction (GO:0023021)3.38289601
109negative regulation of bone resorption (GO:0045779)3.37107154
110regulation of bile acid biosynthetic process (GO:0070857)3.35108688
111negative regulation of interleukin-8 production (GO:0032717)3.35054993
112regulation of norepinephrine secretion (GO:0014061)3.34939842
113response to topologically incorrect protein (GO:0035966)3.34453824
114fatty acid derivative transport (GO:1901571)3.33932376
115icosanoid transport (GO:0071715)3.33932376
116astrocyte differentiation (GO:0048708)3.31961300
117regulation of actin filament depolymerization (GO:0030834)3.30928312
118macroautophagy (GO:0016236)3.27893069
119response to monosaccharide (GO:0034284)3.27339504
120response to misfolded protein (GO:0051788)3.27327836
121membrane repolarization during cardiac muscle cell action potential (GO:0086013)3.26554921
122phospholipid scrambling (GO:0017121)3.25909390
123response to hepatocyte growth factor (GO:0035728)3.25034848
124cellular response to hepatocyte growth factor stimulus (GO:0035729)3.25034848
125single fertilization (GO:0007338)3.24252206
126intestinal absorption (GO:0050892)3.22496700
127inner ear morphogenesis (GO:0042472)3.21752545
128positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)3.19666926
129regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060211)3.19666926
130cyclic nucleotide catabolic process (GO:0009214)3.19103470
131protein localization to Golgi apparatus (GO:0034067)3.18501741
132epithelial structure maintenance (GO:0010669)3.16208603
133mesoderm development (GO:0007498)3.13496800
134positive regulation of hormone secretion (GO:0046887)3.13297901
135apoptotic process involved in morphogenesis (GO:0060561)3.12048522
136positive regulation of glycolytic process (GO:0045821)3.09898237
137L-alpha-amino acid transmembrane transport (GO:1902475)3.08471304
138negative regulation of macroautophagy (GO:0016242)3.05461661
139positive regulation of vascular permeability (GO:0043117)3.05145731
140monoubiquitinated protein deubiquitination (GO:0035520)3.04997746
141wound healing (GO:0042060)3.04719837
142peptide transport (GO:0015833)3.04528692
143microtubule severing (GO:0051013)3.03165328
144membrane repolarization during action potential (GO:0086011)3.02874673
145regulation of glucokinase activity (GO:0033131)3.02352845
146regulation of hexokinase activity (GO:1903299)3.02352845
147hormone secretion (GO:0046879)3.02321899
148carbohydrate homeostasis (GO:0033500)2.99316921
149glucose homeostasis (GO:0042593)2.99316921
150positive regulation of cell cycle checkpoint (GO:1901978)2.98836460
151regulation of glucose import in response to insulin stimulus (GO:2001273)2.98150122
152regulation of Golgi to plasma membrane protein transport (GO:0042996)2.97359320
153GDP-mannose metabolic process (GO:0019673)2.96671130
154chromatin silencing (GO:0006342)2.95723129
155mannose metabolic process (GO:0006013)2.95316166
156activation of adenylate cyclase activity (GO:0007190)2.94569087
157respiratory tube development (GO:0030323)2.94540240
158cellular response to vitamin (GO:0071295)2.93510416
159multicellular organism reproduction (GO:0032504)2.92589298
160regulation of glucocorticoid secretion (GO:2000849)2.92186352
161establishment of apical/basal cell polarity (GO:0035089)2.91507241
162cardiolipin metabolic process (GO:0032048)2.91400699
163regulation of chromatin binding (GO:0035561)2.90560222
164cerebellar Purkinje cell layer development (GO:0021680)2.89919685
165histone H3-K4 trimethylation (GO:0080182)2.89314971
166phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)2.88706911
167negative regulation of actin filament polymerization (GO:0030837)2.88559906
168negative regulation of oxidoreductase activity (GO:0051354)2.87940806
169positive regulation of synapse maturation (GO:0090129)2.87861653
170cell junction maintenance (GO:0034331)2.87478365
171nucleoside diphosphate catabolic process (GO:0009134)2.87210193
172cellular response to glucagon stimulus (GO:0071377)2.87078644
173Golgi vesicle transport (GO:0048193)2.86511729
1744-hydroxyproline metabolic process (GO:0019471)2.86391527
175Golgi organization (GO:0007030)2.85681003
176multi-organism reproductive behavior (GO:0044705)2.85136737
177intestinal cholesterol absorption (GO:0030299)2.84186204
178hormone transport (GO:0009914)2.83115442
179response to carbohydrate (GO:0009743)2.82324524
180chemosensory behavior (GO:0007635)2.81045474
181regulation of guanylate cyclase activity (GO:0031282)2.80744891
182positive regulation of vesicle fusion (GO:0031340)2.80683291
183columnar/cuboidal epithelial cell differentiation (GO:0002065)2.79986044
184pancreas development (GO:0031016)2.79673063
1853-UTR-mediated mRNA stabilization (GO:0070935)2.75756671
186positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO2.75739694
187regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900151)2.75739694
188cilium or flagellum-dependent cell motility (GO:0001539)2.73570060
189regulation of cholesterol esterification (GO:0010872)2.73492127
190positive regulation of protein kinase C signaling (GO:0090037)2.70309505
191cell-cell junction maintenance (GO:0045217)2.69876313
192negative regulation of gene expression, epigenetic (GO:0045814)2.69816132
193phosphatidylglycerol acyl-chain remodeling (GO:0036148)2.64010247
194cellular component disassembly involved in execution phase of apoptosis (GO:0006921)2.62094764
195regulation of female receptivity (GO:0045924)12.0205429
196phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)11.7407112
197COPI coating of Golgi vesicle (GO:0048205)10.9230540
198Golgi transport vesicle coating (GO:0048200)10.9230540
199female mating behavior (GO:0060180)10.5049563
200negative regulation by host of viral transcription (GO:0043922)10.2800466

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse8.03713460
2EZH2_22144423_ChIP-Seq_EOC_Human7.39344354
3DMRT1_21621532_ChIP-ChIP_FETAL_Ovary4.80330336
4GATA1_22025678_ChIP-Seq_K562_Human4.41590915
5STAT6_21828071_ChIP-Seq_BEAS2B_Human3.46841787
6PDX1_19855005_ChIP-ChIP_MIN6_Mouse3.18440462
7VDR_21846776_ChIP-Seq_THP-1_Human2.73028790
8MYC_22102868_ChIP-Seq_BL_Human2.64528376
9KDM2B_26808549_Chip-Seq_SUP-B15_Human2.37099110
10RACK7_27058665_Chip-Seq_MCF-7_Human2.27959912
11IKZF1_21737484_ChIP-ChIP_HCT116_Human2.27377386
12SOX2_27498859_Chip-Seq_STOMACH_Mouse2.23988903
13P68_20966046_ChIP-Seq_HELA_Human2.22999647
14EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.11321831
15TFAP2C_20629094_ChIP-Seq_MCF-7_Human2.04376571
16RARG_19884340_ChIP-ChIP_MEFs_Mouse2.00227385
17JARID2_20075857_ChIP-Seq_MESCs_Mouse1.97565729
18CDX2_20551321_ChIP-Seq_CACO-2_Human1.97256198
19GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.94266792
20SMC4_20622854_ChIP-Seq_HELA_Human1.92164734
21SA1_27219007_Chip-Seq_ERYTHROID_Human1.90571268
22KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.89062699
23BCL6_27268052_Chip-Seq_Bcells_Human1.88092982
24ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.84598981
25FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.83104222
26MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.83087351
27FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.82417966
28* KDM2B_26808549_Chip-Seq_DND41_Human1.79691220
29ESR1_15608294_ChIP-ChIP_MCF-7_Human1.77920887
30* SA1_27219007_Chip-Seq_Bcells_Human1.76243811
31E2F1_20622854_ChIP-Seq_HELA_Human1.74471422
32TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.73513516
33EZH2_27304074_Chip-Seq_ESCs_Mouse1.73206139
34NR3C1_23031785_ChIP-Seq_PC12_Mouse1.73132651
35BCOR_27268052_Chip-Seq_Bcells_Human1.71289628
36PHF8_20622854_ChIP-Seq_HELA_Human1.69900152
37TET1_21451524_ChIP-Seq_MESCs_Mouse1.69533081
38ESR1_21235772_ChIP-Seq_MCF-7_Human1.69055819
39TCF7_22412390_ChIP-Seq_EML_Mouse1.62658544
40KDM2B_26808549_Chip-Seq_K562_Human1.62445834
41ELK3_25401928_ChIP-Seq_HUVEC_Human1.62071109
42BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.59886137
43OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.59609439
44REST_21632747_ChIP-Seq_MESCs_Mouse1.57721025
45TP53_22127205_ChIP-Seq_IMR90_Human1.56748445
46ZNF274_21170338_ChIP-Seq_K562_Hela1.55809891
47SUZ12_27294783_Chip-Seq_ESCs_Mouse1.55346517
48UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.55300507
49GATA1_19941826_ChIP-Seq_K562_Human1.54677092
50WDR5_24793694_ChIP-Seq_LNCAP_Human1.53619886
51PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.52767799
52SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.52279279
53STAT1_20625510_ChIP-Seq_HELA_Human1.51473440
54SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.47757726
55AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.47201849
56JARID2_20064375_ChIP-Seq_MESCs_Mouse1.46640849
57PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.46068888
58VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.44026717
59* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.43995987
60NFIB_24661679_ChIP-Seq_LUNG_Mouse1.43578397
61ERG_20517297_ChIP-Seq_VCAP_Human1.43402202
62CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.40337255
63MAF_26560356_Chip-Seq_TH2_Human1.40241394
64ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.40055097
65CTCF_20526341_ChIP-Seq_ESCs_Human1.39482532
66* MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.38286843
67CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.37773503
68THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.37292149
69* CTCF_27219007_Chip-Seq_ERYTHROID_Human1.35491714
70MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.32747900
71TP63_22573176_ChIP-Seq_HFKS_Human1.32217365
72ZNF217_24962896_ChIP-Seq_MCF-7_Human1.29995151
73FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.29674991
74TRIM28_21343339_ChIP-Seq_HEK293_Human1.29655758
75TP53_20018659_ChIP-ChIP_R1E_Mouse1.28331227
76SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.27872418
77* CTCF_21964334_Chip-Seq_Bcells_Human1.26512252
78FOXA1_25552417_ChIP-Seq_VCAP_Human1.26299118
79GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.23693790
80REST_19997604_ChIP-ChIP_NEURONS_Mouse1.23639994
81IGF1R_20145208_ChIP-Seq_DFB_Human1.23174416
82ELF1_20517297_ChIP-Seq_JURKAT_Human1.23107018
83ERG_21242973_ChIP-ChIP_JURKAT_Human1.22740222
84IRF1_19129219_ChIP-ChIP_H3396_Human1.21939073
85SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.21492273
86ZFP281_18757296_ChIP-ChIP_E14_Mouse1.20751933
87P300_27268052_Chip-Seq_Bcells_Human1.19794960
88DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.19109553
89SOX2_20726797_ChIP-Seq_SW620_Human1.18394325
90EED_16625203_ChIP-ChIP_MESCs_Mouse1.17902392
91RNF2_27304074_Chip-Seq_ESCs_Mouse1.17339062
92OCT4_19829295_ChIP-Seq_ESCs_Human1.16689889
93RING1B_27294783_Chip-Seq_NPCs_Mouse1.16136595
94FOXA1_26743006_Chip-Seq_LNCaP-abl_Human1.14600471
95RNF2_18974828_ChIP-Seq_MESCs_Mouse1.14206649
96EZH2_18974828_ChIP-Seq_MESCs_Mouse1.14206649
97KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.13425662
98TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.12790286
99DNAJC2_21179169_ChIP-ChIP_NT2_Human1.11900693
100SCL_19346495_ChIP-Seq_HPC-7_Human1.11770959
101CBX2_27304074_Chip-Seq_ESCs_Mouse1.11040182
102SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.10479236
103REST_18959480_ChIP-ChIP_MESCs_Mouse1.10456305
104TFEB_21752829_ChIP-Seq_HELA_Human1.10148496
105NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.10049331
106LXR_22158963_ChIP-Seq_LIVER_Mouse1.09137508
107CLOCK_20551151_ChIP-Seq_293T_Human1.06519572
108ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.06218715
109GATA4_25053715_ChIP-Seq_YYC3_Human1.05788620
110ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.04827300
111BMI1_23680149_ChIP-Seq_NPCS_Mouse1.04385794
112ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.04202764
113GATA3_24758297_ChIP-Seq_MCF-7_Human1.03676902
114ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.03160794
115* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.03158619
116YY1_22570637_ChIP-Seq_MALME-3M_Human1.03043146
117TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.03040196
118VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.01682904
119* OCT4_20526341_ChIP-Seq_ESCs_Human1.01651834
120VDR_24763502_ChIP-Seq_THP-1_Human1.01550289
121E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.00759145
122RAC3_21632823_ChIP-Seq_H3396_Human1.00753441
123PKCTHETA_26484144_Chip-Seq_BREAST_Human1.00340291
124CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.00017028
125JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.99801477
126EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.99788589
127* CTCF_21964334_ChIP-Seq_BJAB-B_Human0.99217100
128ZFP281_27345836_Chip-Seq_ESCs_Mouse0.98812473
129DROSHA_22980978_ChIP-Seq_HELA_Human0.97673895
130* EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.97188022
131MAF_26560356_Chip-Seq_TH1_Human0.96774794
132SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.96383119
133GATA1_19941827_ChIP-Seq_MEL_Mouse0.96179265
134SOX9_24532713_ChIP-Seq_HFSC_Mouse0.95278347
135SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.94199374
136RXR_22158963_ChIP-Seq_LIVER_Mouse0.93802837
137* LXR_22292898_ChIP-Seq_THP-1_Human0.93687183
138GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.93677893
139LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93045006
140TDRD3_21172665_ChIP-Seq_MCF-7_Human0.93016192
141GATA6_25053715_ChIP-Seq_YYC3_Human0.91987300
142FOXA2_19822575_ChIP-Seq_HepG2_Human0.91752192
143STAT3_23295773_ChIP-Seq_U87_Human0.91675638
144* CTCF_27219007_Chip-Seq_Bcells_Human0.90964083
145CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.89832311
146KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.88962376
147PIAS1_25552417_ChIP-Seq_VCAP_Human0.87256394
148BCAT_22108803_ChIP-Seq_LS180_Human0.86813025
149YAP1_20516196_ChIP-Seq_MESCs_Mouse0.85868427
150STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.85742160
151FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.85672407
152SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.85475693
153RUNX1_27514584_Chip-Seq_MCF-7_Human0.84854765
154CREB1_26743006_Chip-Seq_LNCaP_Human0.84787826
155NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.84082554
156SMAD3_21741376_ChIP-Seq_ESCs_Human0.83437580
157MEIS1_20887958_ChIP-Seq_HPC-7_Mouse0.82489252
158HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.82020956
159EZH2_27294783_Chip-Seq_ESCs_Mouse0.81168198
160GATA3_27048872_Chip-Seq_THYMUS_Human0.80949819
161PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.78325139
162SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.77328770
163TET1_21490601_ChIP-Seq_MESCs_Mouse0.76679169
164LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.76296202
165WT1_25993318_ChIP-Seq_PODOCYTE_Human0.76014765
166FOXA1_25329375_ChIP-Seq_VCAP_Human0.75604817
167FOXA1_27270436_Chip-Seq_PROSTATE_Human0.75604817
168TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.75000967
169TBX20_22328084_ChIP-Seq_HEART_Mouse0.74725059
170TBX20_22080862_ChIP-Seq_HEART_Mouse0.74725059
171E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.74263011
172GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.73398697
173MTF2_20144788_ChIP-Seq_MESCs_Mouse0.73388730
174RARB_27405468_Chip-Seq_BRAIN_Mouse0.72775899
175TP53_22573176_ChIP-Seq_HFKS_Human0.72693109
176GATA2_21666600_ChIP-Seq_HMVEC_Human0.72273423
177GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.71841840
178ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.71738512
179GF1B_26923725_Chip-Seq_HPCs_Mouse0.71456026
180CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.71449147

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002877_abnormal_melanocyte_morpholog5.83095679
2MP0003283_abnormal_digestive_organ5.72013073
3MP0002693_abnormal_pancreas_physiology4.68170733
4MP0009780_abnormal_chondrocyte_physiolo4.53796468
5MP0004043_abnormal_pH_regulation4.15526435
6MP0005423_abnormal_somatic_nervous4.08116881
7MP0001944_abnormal_pancreas_morphology4.05196938
8MP0006276_abnormal_autonomic_nervous3.98792295
9MP0002909_abnormal_adrenal_gland3.82973768
10MP0000678_abnormal_parathyroid_gland3.65809107
11MP0001986_abnormal_taste_sensitivity3.59540072
12MP0000013_abnormal_adipose_tissue3.42468601
13MP0010386_abnormal_urinary_bladder3.41011864
14MP0003195_calcinosis3.27521821
15MP0003123_paternal_imprinting3.24967313
16MP0005379_endocrine/exocrine_gland_phen3.13415379
17MP0003183_abnormal_peptide_metabolism3.05499136
18MP0005220_abnormal_exocrine_pancreas2.69708186
19MP0004264_abnormal_extraembryonic_tissu2.56729748
20MP0003878_abnormal_ear_physiology2.52321656
21MP0005377_hearing/vestibular/ear_phenot2.52321656
22MP0002837_dystrophic_cardiac_calcinosis2.40437004
23MP0008004_abnormal_stomach_pH2.35347105
24MP0002078_abnormal_glucose_homeostasis2.31884018
25MP0000462_abnormal_digestive_system2.29655228
26MP0003718_maternal_effect2.21886365
27MP0006072_abnormal_retinal_apoptosis2.06906839
28MP0003868_abnormal_feces_composition1.99132105
29MP0000026_abnormal_inner_ear1.99004632
30MP0002234_abnormal_pharynx_morphology1.83655030
31MP0001485_abnormal_pinna_reflex1.81605339
32MP0009046_muscle_twitch1.76833762
33MP0002896_abnormal_bone_mineralization1.72710922
34MP0003300_gastrointestinal_ulcer1.72058170
35MP0010234_abnormal_vibrissa_follicle1.69916683
36MP0000003_abnormal_adipose_tissue1.69039350
37MP0004885_abnormal_endolymph1.63553157
38MP0005646_abnormal_pituitary_gland1.61442557
39MP0004233_abnormal_muscle_weight1.54313594
40MP0002735_abnormal_chemical_nociception1.53969461
41MP0002928_abnormal_bile_duct1.51142254
42MP0000613_abnormal_salivary_gland1.48367568
43MP0003122_maternal_imprinting1.46716254
44MP0002102_abnormal_ear_morphology1.45161981
45MP0005310_abnormal_salivary_gland1.42527659
46MP0001765_abnormal_ion_homeostasis1.40920892
47MP0003866_abnormal_defecation1.40189944
48MP0003172_abnormal_lysosome_physiology1.39999036
49MP0005360_urolithiasis1.39246917
50MP0003953_abnormal_hormone_level1.37749546
51MP0002638_abnormal_pupillary_reflex1.36658091
52MP0002822_catalepsy1.31706020
53MP0001270_distended_abdomen1.31568828
54MP0009643_abnormal_urine_homeostasis1.26414287
55MP0005257_abnormal_intraocular_pressure1.23853089
56MP0002089_abnormal_postnatal_growth/wei1.22571496
57MP0001666_abnormal_nutrient_absorption1.22004267
58MP0002876_abnormal_thyroid_physiology1.20230000
59MP0005645_abnormal_hypothalamus_physiol1.17418570
60MP0008961_abnormal_basal_metabolism1.16203815
61MP0008770_decreased_survivor_rate1.15934417
62MP0003252_abnormal_bile_duct1.15276206
63MP0003119_abnormal_digestive_system1.14038452
64MP0005058_abnormal_lysosome_morphology1.09346344
65MP0002249_abnormal_larynx_morphology1.07014603
66MP0002163_abnormal_gland_morphology1.06862322
67MP0005451_abnormal_body_composition1.06655747
68MP0004270_analgesia1.03921970
69MP0005410_abnormal_fertilization1.01779900
70MP0000490_abnormal_crypts_of1.01319466
71MP0000538_abnormal_urinary_bladder0.99955170
72MP0005535_abnormal_body_temperature0.95522348
73MP0010155_abnormal_intestine_physiology0.95455017
74MP0005448_abnormal_energy_balance0.94511662
75MP0000631_abnormal_neuroendocrine_gland0.92405078
76MP0006054_spinal_hemorrhage0.91384185
77MP0005666_abnormal_adipose_tissue0.91138405
78MP0002139_abnormal_hepatobiliary_system0.90352732
79MP0002138_abnormal_hepatobiliary_system0.89748601
80MP0005187_abnormal_penis_morphology0.89606646
81MP0004145_abnormal_muscle_electrophysio0.88257194
82MP0001299_abnormal_eye_distance/0.87089403
83MP0003315_abnormal_perineum_morphology0.86820380
84MP0003705_abnormal_hypodermis_morpholog0.85854921
85MP0009672_abnormal_birth_weight0.85368397
86MP0001440_abnormal_grooming_behavior0.84313169
87MP0005375_adipose_tissue_phenotype0.83862973
88MP0003959_abnormal_lean_body0.82678205
89MP0003693_abnormal_embryo_hatching0.82297369
90MP0001970_abnormal_pain_threshold0.77390961
91MP0001756_abnormal_urination0.77254248
92MP0001664_abnormal_digestion0.76876076
93MP0005365_abnormal_bile_salt0.76479090
94MP0001348_abnormal_lacrimal_gland0.76356459
95MP0003879_abnormal_hair_cell0.76263270
96MP0003890_abnormal_embryonic-extraembry0.76248339
97MP0000681_abnormal_thyroid_gland0.75823895
98MP0001346_abnormal_lacrimal_gland0.73621827
99MP0002132_abnormal_respiratory_system0.73565371
100MP0005670_abnormal_white_adipose0.72050862
101MP0002229_neurodegeneration0.71799055
102MP0004808_abnormal_hematopoietic_stem0.71549901
103MP0000639_abnormal_adrenal_gland0.70943790
104MP0000049_abnormal_middle_ear0.69138870
105MP0000230_abnormal_systemic_arterial0.68363815
106MP0009250_abnormal_appendicular_skeleto0.68240435
107MP0001929_abnormal_gametogenesis0.67941715
108MP0005636_abnormal_mineral_homeostasis0.66033977
109MP0005409_darkened_coat_color0.65667286
110MP0001661_extended_life_span0.65403774
111MP0002118_abnormal_lipid_homeostasis0.64943043
112MP0003121_genomic_imprinting0.63896010
113MP0001849_ear_inflammation0.63688916
114MP0000163_abnormal_cartilage_morphology0.63645330
115MP0001501_abnormal_sleep_pattern0.63596380
116MP0010368_abnormal_lymphatic_system0.63309959
117MP0003698_abnormal_male_reproductive0.62625285
118MP0003045_fibrosis0.62239602
119MP0003795_abnormal_bone_structure0.62118133
120MP0005076_abnormal_cell_differentiation0.61155913
121MP0009703_decreased_birth_body0.61113773
122MP0005395_other_phenotype0.60661994
123MP0002752_abnormal_somatic_nervous0.60597922
124MP0005253_abnormal_eye_physiology0.60331881
125MP0001963_abnormal_hearing_physiology0.59922941
126MP0000428_abnormal_craniofacial_morphol0.57980931
127MP0000477_abnormal_intestine_morphology0.57555691
128MP0001502_abnormal_circadian_rhythm0.57145096
129MP0000470_abnormal_stomach_morphology0.56328622
130MP0009642_abnormal_blood_homeostasis0.56116228
131MP0001216_abnormal_epidermal_layer0.55691776
132MP0003787_abnormal_imprinting0.54659124
133MP0005334_abnormal_fat_pad0.54588562
134MP0002108_abnormal_muscle_morphology0.52753478
135MP0001968_abnormal_touch/_nociception0.52419377
136MP0005085_abnormal_gallbladder_physiolo0.52029642
137MP0002733_abnormal_thermal_nociception0.51027741
138MP0002254_reproductive_system_inflammat0.50660377
139MP0002161_abnormal_fertility/fecundity0.50536215
140MP0002177_abnormal_outer_ear0.50019903
141MP0002136_abnormal_kidney_physiology0.49728152
142MP0003699_abnormal_female_reproductive0.49319386
143MP0002148_abnormal_hypersensitivity_rea0.49235213
144MP0000516_abnormal_urinary_system0.48599523
145MP0005367_renal/urinary_system_phenotyp0.48599523
146MP0004858_abnormal_nervous_system0.48593146
147MP0002069_abnormal_eating/drinking_beha0.48440504
148MP0001873_stomach_inflammation0.48304150
149MP0001905_abnormal_dopamine_level0.47481208
150MP0002082_postnatal_lethality0.47312510
151MP0010770_preweaning_lethality0.47312510
152MP0004185_abnormal_adipocyte_glucose0.46774055
153MP0003942_abnormal_urinary_system0.45128145
154MP0009115_abnormal_fat_cell0.44579498
155MP0003077_abnormal_cell_cycle0.43344807
156MP0005408_hypopigmentation0.42119242
157MP0002210_abnormal_sex_determination0.41859010
158MP0004142_abnormal_muscle_tone0.40946308
159MP0010769_abnormal_survival0.40794508
160MP0010768_mortality/aging0.39882757
161MP0002938_white_spotting0.39404390
162MP0000579_abnormal_nail_morphology0.39184535
163MP0001731_abnormal_postnatal_growth0.38795813
164MP0001545_abnormal_hematopoietic_system0.38362540
165MP0005397_hematopoietic_system_phenotyp0.38362540
166MP0002882_abnormal_neuron_morphology0.38074565
167MP0002557_abnormal_social/conspecific_i0.37313128
168MP0004085_abnormal_heartbeat0.36848788
169MP0002168_other_aberrant_phenotype0.36290191

Predicted human phenotypes

RankGene SetZ-score
1Hyperinsulinemic hypoglycemia (HP:0000825)8.31175021
2Hypoglycemic seizures (HP:0002173)7.50456988
3Keratoconjunctivitis sicca (HP:0001097)7.03792702
4Symptomatic seizures (HP:0011145)6.92132948
5Hypoglycemic coma (HP:0001325)6.60244987
6Elevated circulating parathyroid hormone (PTH) level (HP:0003165)6.51912727
7Keratoconjunctivitis (HP:0001096)6.50572792
8Insulin-resistant diabetes mellitus (HP:0000831)5.34543926
9Hyperglycemia (HP:0003074)5.07901614
10Abnormality of endocrine pancreas physiology (HP:0012093)5.05950749
11Abnormality of the pancreatic islet cells (HP:0006476)5.05950749
12Pancreatic islet-cell hyperplasia (HP:0004510)4.82437124
13Congenital sensorineural hearing impairment (HP:0008527)4.78170987
14Abnormality of cochlea (HP:0000375)4.72489879
15Facial shape deformation (HP:0011334)4.63452595
16Potter facies (HP:0002009)4.63452595
17Abnormal pancreas size (HP:0012094)4.61771937
18Large for gestational age (HP:0001520)4.56993408
19Dysmetric saccades (HP:0000641)4.53988671
20Ketoacidosis (HP:0001993)4.47221302
21Genetic anticipation (HP:0003743)4.44529279
22Pigmentary retinal degeneration (HP:0001146)4.40280801
23Abnormality of calcium-phosphate metabolism (HP:0100530)4.39057641
24Abnormality of the fingertips (HP:0001211)4.30873124
25Lip pit (HP:0100267)4.27697580
26Decreased circulating renin level (HP:0003351)4.15691057
27Late onset (HP:0003584)3.98924894
28Widely patent fontanelles and sutures (HP:0004492)3.98806741
29Generalized aminoaciduria (HP:0002909)3.97188298
30Urinary glycosaminoglycan excretion (HP:0003541)3.80203958
31Mucopolysacchariduria (HP:0008155)3.80203958
32Abnormality of the vitreous humor (HP:0004327)3.66403173
33Sparse lateral eyebrow (HP:0005338)3.59473911
34Tinnitus (HP:0000360)3.59022511
35Morphological abnormality of the inner ear (HP:0011390)3.58889477
36Abnormality of the anterior chamber (HP:0000593)3.54317634
37Hypokalemia (HP:0002900)3.46493598
38Dysostosis multiplex (HP:0000943)3.45905189
39Abnormality of mucopolysaccharide metabolism (HP:0011020)3.45009344
40Abnormality of polysaccharide metabolism (HP:0011012)3.45009344
41Abnormality of glycosaminoglycan metabolism (HP:0004371)3.45009344
42Osteomalacia (HP:0002749)3.36811155
43Insulin resistance (HP:0000855)3.27443953
44Intestinal fistula (HP:0100819)3.19071913
45Abnormality of the lower motor neuron (HP:0002366)3.18549010
46Retinal dysplasia (HP:0007973)3.07996339
47Hyperparathyroidism (HP:0000843)2.97503142
48Abnormality of the intrinsic pathway (HP:0010989)2.95378394
49Thoracolumbar scoliosis (HP:0002944)2.92224293
50Unilateral renal agenesis (HP:0000122)2.91742126
51Abdominal distention (HP:0003270)2.91311302
52Delayed epiphyseal ossification (HP:0002663)2.88994436
53Wide cranial sutures (HP:0010537)2.83315776
54Malnutrition (HP:0004395)2.81722659
55Keratitis (HP:0000491)2.80245963
56Depressed nasal tip (HP:0000437)2.78850967
57Urethral obstruction (HP:0000796)2.74512416
58Abnormality of renin-angiotensin system (HP:0000847)2.71248556
59Autoimmune thrombocytopenia (HP:0001973)2.71092546
60Abnormality of the columella (HP:0009929)2.68145708
61Exocrine pancreatic insufficiency (HP:0001738)2.67261627
62Thin bony cortex (HP:0002753)2.66510888
63Abnormality of aromatic amino acid family metabolism (HP:0004338)2.63241571
64Clumsiness (HP:0002312)2.61471711
65Cortical visual impairment (HP:0100704)2.59293095
66Abnormality of potassium homeostasis (HP:0011042)2.58026701
67Bronchomalacia (HP:0002780)2.56359512
68Hemorrhage of the eye (HP:0011885)2.54668625
69Progressive cerebellar ataxia (HP:0002073)2.53463370
70Agitation (HP:0000713)2.53423156
71Abnormal urine output (HP:0012590)2.49500294
72Hypothermia (HP:0002045)2.49446332
73Enlarged penis (HP:0000040)2.48465889
74Visual hallucinations (HP:0002367)2.46218974
75External ophthalmoplegia (HP:0000544)2.45482284
76Prominent metopic ridge (HP:0005487)2.43689804
77Ketosis (HP:0001946)2.42719779
78Progressive neurologic deterioration (HP:0002344)2.41549088
79Hyperactive renin-angiotensin system (HP:0000841)2.38991203
80Postural instability (HP:0002172)2.35459770
81Conjugated hyperbilirubinemia (HP:0002908)2.32935770
82Protuberant abdomen (HP:0001538)2.31252796
83Anal stenosis (HP:0002025)2.28447795
84Hypsarrhythmia (HP:0002521)2.28273262
85EEG with generalized epileptiform discharges (HP:0011198)2.26831046
86Protruding tongue (HP:0010808)2.22024316
87Bell-shaped thorax (HP:0001591)2.21531658
88Irregular epiphyses (HP:0010582)2.20019024
89Mildly elevated creatine phosphokinase (HP:0008180)2.19506339
90Abnormality of the metopic suture (HP:0005556)2.18955275
91Intestinal atresia (HP:0011100)2.16673249
92Limb hypertonia (HP:0002509)2.16371860
93Abnormality of renal excretion (HP:0011036)2.14964548
94Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.14855155
95Epileptiform EEG discharges (HP:0011182)2.14436157
96Abnormal protein glycosylation (HP:0012346)2.13724419
97Abnormal glycosylation (HP:0012345)2.13724419
98Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.13724419
99Abnormal protein N-linked glycosylation (HP:0012347)2.13724419
100Intellectual disability, progressive (HP:0006887)2.12622607
101Retinal atrophy (HP:0001105)2.11965770
102Chronic bronchitis (HP:0004469)2.11874453
103Epiphyseal dysplasia (HP:0002656)2.11582458
104Hypercortisolism (HP:0001578)2.10940098
105Mild short stature (HP:0003502)2.10844988
106Hyperkalemia (HP:0002153)2.07654953
107Congenital glaucoma (HP:0001087)2.07510606
108Amelogenesis imperfecta (HP:0000705)2.07399241
109Self-mutilation (HP:0000742)2.05706298
110Abnormality of small intestinal villus morphology (HP:0011472)2.03975980
111Villous atrophy (HP:0011473)2.03975980
112Ventricular fibrillation (HP:0001663)2.03476413
113Missing ribs (HP:0000921)2.03366996
114Impaired smooth pursuit (HP:0007772)2.03234043
115Disproportionate short-trunk short stature (HP:0003521)2.02725561
116Abnormal respiratory epithelium morphology (HP:0012253)2.01525218
117Abnormal respiratory motile cilium morphology (HP:0005938)2.01525218
118Anonychia (HP:0001798)1.97555042
119Abnormality of liposaccharide metabolism (HP:0010968)1.97520598
120Abnormality of glycosphingolipid metabolism (HP:0004343)1.97520598
121Abnormality of glycolipid metabolism (HP:0010969)1.97520598
122Difficulty climbing stairs (HP:0003551)1.97111498
123Irregular vertebral endplates (HP:0003301)1.97054285
124Hypophosphatemia (HP:0002148)1.95364177
125Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.95047988
126Facial hemangioma (HP:0000329)1.93415830
127High anterior hairline (HP:0009890)1.92709530
128Ectopic kidney (HP:0000086)1.90936525
129Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.90399903
130Glucose intolerance (HP:0000833)1.89515813
131Abnormality of glutamine family amino acid metabolism (HP:0010902)1.89266698
132Tracheomalacia (HP:0002779)1.88925962
133Spinal cord compression (HP:0002176)1.88268343
134Long palpebral fissure (HP:0000637)1.87442893
135Germ cell neoplasia (HP:0100728)1.86849132
136Impulsivity (HP:0100710)1.85569513
137Retinal detachment (HP:0000541)1.85031605
138Papilledema (HP:0001085)1.84584106
139Hyperphosphaturia (HP:0003109)1.84577362
140Narrow nasal bridge (HP:0000446)1.83970347
141Hyperphosphatemia (HP:0002905)1.83301806
142Patellar aplasia (HP:0006443)1.82917464
143Flat capital femoral epiphysis (HP:0003370)1.82880279
144Gout (HP:0001997)1.82852879
145Chronic otitis media (HP:0000389)1.81597768
146Metabolic alkalosis (HP:0200114)1.80963580
147Pheochromocytoma (HP:0002666)1.80255565
148Abnormality of the diencephalon (HP:0010662)1.79732818
149Pili torti (HP:0003777)1.79133656
150Hypotension (HP:0002615)1.78903749
151Cystic liver disease (HP:0006706)1.78670544
152Lymphangioma (HP:0100764)1.77938034
153Type 2 muscle fiber atrophy (HP:0003554)1.77316488
15411 pairs of ribs (HP:0000878)1.77120554
155Truncal ataxia (HP:0002078)1.77071849
156Neonatal short-limb short stature (HP:0008921)1.76973049
157Increased circulating renin level (HP:0000848)1.75685420
158Muscle fiber atrophy (HP:0100295)1.75629458
159Type I transferrin isoform profile (HP:0003642)1.75236178
160Abnormality of saccadic eye movements (HP:0000570)1.72977517
161Acute hepatic failure (HP:0006554)1.72349868
162Flattened epiphyses (HP:0003071)1.72188541
163Glycosuria (HP:0003076)1.71819339
164Abnormality of urine glucose concentration (HP:0011016)1.71819339
165Bony spicule pigmentary retinopathy (HP:0007737)1.71778102
166Goiter (HP:0000853)1.71633437
167Aplasia/hypoplasia of the uterus (HP:0008684)1.69849744
168Dysautonomia (HP:0002459)1.69650763
169Hypokalemic alkalosis (HP:0001949)1.69171139
170Ectopia lentis (HP:0001083)1.68836865
171Small epiphyses (HP:0010585)1.68605131
172Hypoplasia of the fovea (HP:0007750)1.68199311
173Aplasia/Hypoplasia of the fovea (HP:0008060)1.68199311
174Onion bulb formation (HP:0003383)1.67955717
175Abnormality of the common coagulation pathway (HP:0010990)1.67952412
176Hepatoblastoma (HP:0002884)1.67854649
177Elevated alkaline phosphatase (HP:0003155)1.67264451
178Hypoplastic labia majora (HP:0000059)1.66743358
179Flat acetabular roof (HP:0003180)1.66257878
180Generalized hyperpigmentation (HP:0007440)1.66195400
181Oligodontia (HP:0000677)1.64912289
182Abnormal glucose tolerance (HP:0001952)1.64717469
183Mixed hearing impairment (HP:0000410)1.64660000
184Adrenal overactivity (HP:0002717)1.64356748
185Spinal muscular atrophy (HP:0007269)1.62301544
186Mask-like facies (HP:0000298)1.61126518
187Chronic sinusitis (HP:0011109)1.60584729
188Abnormality of alkaline phosphatase activity (HP:0004379)1.60371340
189Hypotelorism (HP:0000601)1.59163709
190Preauricular pit (HP:0004467)1.59126410

Predicted kinase interactions (KEA)

RankGene SetZ-score
1INSRR7.75169702
2PASK6.50557729
3MAPK153.96205359
4HIPK23.36524264
5ERN13.26593888
6TAOK33.24064291
7FRK2.90478301
8FLT32.78701732
9CDK122.52263281
10MAP3K22.49809524
11PRKD32.43650520
12SIK22.40009553
13TRPM72.06877238
14NTRK12.00975016
15PDGFRA1.91975840
16MKNK11.71560391
17PKN21.69263911
18CAMKK21.65605577
19MAP3K11.63946712
20EEF2K1.61464867
21MAP2K21.55526756
22PTK21.55414498
23SMG11.52801042
24MET1.48459697
25WNK41.42140179
26PTK61.38864470
27NTRK31.38505803
28CDC42BPA1.31192776
29SCYL21.26925321
30DDR21.24999951
31IRAK31.20562991
32EIF2AK31.15681556
33IRAK21.14790339
34MST1R1.11329781
35NME11.07351086
36NEK21.04833984
37UHMK11.04073179
38PRKCH1.01173171
39MAP3K131.00264270
40RPS6KB20.99410237
41BRSK20.99192749
42DYRK1B0.99174945
43TEC0.97106822
44TRIB30.93719665
45SIK10.92750172
46IRAK10.92371629
47MAPK110.91260803
48ITK0.88521835
49PRKD20.87244479
50EPHA30.84862949
51JAK30.83879539
52AKT30.82099224
53MAPKAPK50.80187877
54PAK30.78446406
55BRAF0.78319555
56PDPK10.71878672
57RPS6KA20.70633992
58PRKCE0.69751286
59BTK0.67247330
60MAP3K90.67234926
61PRKCI0.66317452
62CAMK2D0.65070151
63CDK40.64397741
64ACVR1B0.63775711
65TLK10.60808824
66BUB10.59123693
67JAK20.58289260
68TAOK10.57358284
69EPHA20.57310863
70MAP2K60.56762093
71PRPF4B0.56591111
72ILK0.55788539
73MAPKAPK20.55281571
74PAK40.54855318
75MUSK0.54372434
76MELK0.50791828
77MAP3K30.48904522
78BCKDK0.47561934
79GSK3A0.47482725
80ERBB30.47449817
81BRD40.47161603
82MAP2K10.47004887
83RET0.45236571
84LATS10.44984152
85PDK10.44521334
86CAMK2B0.44084796
87NME20.43703267
88PRKAA10.42507280
89ZAP700.40770503
90KSR20.40733007
91CHUK0.40580188
92BMPR1B0.40274689
93JAK10.40121909
94MARK20.40002336
95MAP3K70.39725073
96PRKACG0.39540169
97HCK0.37852149
98CDK70.36961440
99CSNK1A10.36915695
100RPS6KA50.36256671
101IGF1R0.36113339
102EPHB20.35624845
103DYRK30.35582894
104TYRO30.35431819
105DYRK20.35013947
106CAMKK10.34916184
107PRKD10.34111224
108CAMK1D0.33707237
109INSR0.33686949
110PRKAA20.33558429
111FER0.33209903
112MTOR0.32695321
113BRSK10.30882168
114ATR0.30743434
115SRC0.30418775
116MAPK80.30386832
117PRKACA0.30386151
118MAP3K100.29966173
119PDGFRB0.29947734
120TTK0.28811429
121NLK0.27869714
122FGFR40.27490650
123ICK0.27475428
124RPS6KA60.26477337
125TYK20.26431486
126CDK80.26356273
127WNK10.24097860
128FGFR20.23677534
129LRRK20.22486513
130PLK40.22205203
131GSK3B0.22036273
132CAMK1G0.21959076
133MAPK140.21804947
134RPS6KB10.20387172
135DMPK0.20051158
136CDK30.19800667
137IRAK40.19746854
138RPS6KL10.19247354
139RPS6KC10.19247354
140NEK60.19119438
141BMPR20.18754571
142PRKCA0.18722658
143WNK30.18478935
144ARAF0.18316308
145CDK50.17829320
146MARK30.17589170
147PRKG20.17544274
148MAPK30.17444683
149RIPK10.17382028
150ERBB20.16148052
151LMTK20.15371967
152TESK10.14537397
153CDK20.14355544

Predicted pathways (KEGG)

RankGene SetZ-score
1Maturity onset diabetes of the young_Homo sapiens_hsa049509.63068137
2Protein export_Homo sapiens_hsa030605.36024027
3Sulfur metabolism_Homo sapiens_hsa009203.90041442
4Protein processing in endoplasmic reticulum_Homo sapiens_hsa041413.17437025
5Insulin secretion_Homo sapiens_hsa049113.06452191
6Type II diabetes mellitus_Homo sapiens_hsa049302.52474621
7Notch signaling pathway_Homo sapiens_hsa043302.38512664
8Carbohydrate digestion and absorption_Homo sapiens_hsa049732.28812626
9Cyanoamino acid metabolism_Homo sapiens_hsa004602.05044336
10Vibrio cholerae infection_Homo sapiens_hsa051102.04217339
11Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.03829425
12Sulfur relay system_Homo sapiens_hsa041221.99601966
13Type I diabetes mellitus_Homo sapiens_hsa049401.97858227
14Selenocompound metabolism_Homo sapiens_hsa004501.77724809
15VEGF signaling pathway_Homo sapiens_hsa043701.75690591
16N-Glycan biosynthesis_Homo sapiens_hsa005101.74784857
17Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.59309699
18Cocaine addiction_Homo sapiens_hsa050301.58703699
19Vitamin digestion and absorption_Homo sapiens_hsa049771.44203823
20Lysosome_Homo sapiens_hsa041421.35964542
21Fructose and mannose metabolism_Homo sapiens_hsa000511.33425426
22Phospholipase D signaling pathway_Homo sapiens_hsa040721.30100294
23Choline metabolism in cancer_Homo sapiens_hsa052311.29257938
24Pancreatic secretion_Homo sapiens_hsa049721.28352290
25Glycosaminoglycan degradation_Homo sapiens_hsa005311.27542071
26Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.26924157
27Calcium signaling pathway_Homo sapiens_hsa040201.26459833
28Insulin resistance_Homo sapiens_hsa049311.14686609
29Amphetamine addiction_Homo sapiens_hsa050311.13772526
30Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.09712059
31Olfactory transduction_Homo sapiens_hsa047401.09119804
32Linoleic acid metabolism_Homo sapiens_hsa005911.08106111
33Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.07720610
34Arginine biosynthesis_Homo sapiens_hsa002201.06537701
35Non-small cell lung cancer_Homo sapiens_hsa052231.06421011
36Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.01492776
37Tryptophan metabolism_Homo sapiens_hsa003801.01265941
38Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.00842946
39ABC transporters_Homo sapiens_hsa020101.00631409
40Other glycan degradation_Homo sapiens_hsa005111.00150396
41alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.98695970
42Circadian rhythm_Homo sapiens_hsa047100.96209340
43Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.96169034
44Fat digestion and absorption_Homo sapiens_hsa049750.93834198
45Prolactin signaling pathway_Homo sapiens_hsa049170.93630234
46Glucagon signaling pathway_Homo sapiens_hsa049220.91475437
47SNARE interactions in vesicular transport_Homo sapiens_hsa041300.90759128
48Folate biosynthesis_Homo sapiens_hsa007900.90615431
49Galactose metabolism_Homo sapiens_hsa000520.89835745
50Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.88448414
51Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.88050506
52Herpes simplex infection_Homo sapiens_hsa051680.87658022
53Base excision repair_Homo sapiens_hsa034100.85217278
54Bile secretion_Homo sapiens_hsa049760.82653191
55Regulation of autophagy_Homo sapiens_hsa041400.82512505
56Thyroid hormone synthesis_Homo sapiens_hsa049180.82086625
57* Taste transduction_Homo sapiens_hsa047420.82000001
58Sphingolipid metabolism_Homo sapiens_hsa006000.77859764
59Glycerolipid metabolism_Homo sapiens_hsa005610.77273836
602-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.76764952
61Aldosterone synthesis and secretion_Homo sapiens_hsa049250.76631640
62mRNA surveillance pathway_Homo sapiens_hsa030150.75115391
63Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.73443363
64Prion diseases_Homo sapiens_hsa050200.72161316
65Serotonergic synapse_Homo sapiens_hsa047260.69834196
66Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.69693264
67Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.68524909
68Cholinergic synapse_Homo sapiens_hsa047250.64865184
69ErbB signaling pathway_Homo sapiens_hsa040120.64527854
70Nicotine addiction_Homo sapiens_hsa050330.64454188
71Long-term potentiation_Homo sapiens_hsa047200.64052165
72Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.62774657
73Dopaminergic synapse_Homo sapiens_hsa047280.62599906
74Protein digestion and absorption_Homo sapiens_hsa049740.61721252
75Glutamatergic synapse_Homo sapiens_hsa047240.61562524
76Estrogen signaling pathway_Homo sapiens_hsa049150.61295563
77Butanoate metabolism_Homo sapiens_hsa006500.60486864
78Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.59515221
79Collecting duct acid secretion_Homo sapiens_hsa049660.57540998
80Arginine and proline metabolism_Homo sapiens_hsa003300.57455723
81Starch and sucrose metabolism_Homo sapiens_hsa005000.55935067
82Vascular smooth muscle contraction_Homo sapiens_hsa042700.55139707
83Phenylalanine metabolism_Homo sapiens_hsa003600.52082169
84Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.50943664
85Circadian entrainment_Homo sapiens_hsa047130.49960584
86Alcoholism_Homo sapiens_hsa050340.49230117
87Acute myeloid leukemia_Homo sapiens_hsa052210.47426362
88cGMP-PKG signaling pathway_Homo sapiens_hsa040220.46669152
89Insulin signaling pathway_Homo sapiens_hsa049100.46090567
90Histidine metabolism_Homo sapiens_hsa003400.44926347
91Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.43739767
92Oxytocin signaling pathway_Homo sapiens_hsa049210.42879660
93Bladder cancer_Homo sapiens_hsa052190.41887460
94Retinol metabolism_Homo sapiens_hsa008300.41729287
95Ras signaling pathway_Homo sapiens_hsa040140.41140055
96Synaptic vesicle cycle_Homo sapiens_hsa047210.40842610
97Longevity regulating pathway - mammal_Homo sapiens_hsa042110.40162610
98Mineral absorption_Homo sapiens_hsa049780.40068012
99Gastric acid secretion_Homo sapiens_hsa049710.39440130
100Phosphatidylinositol signaling system_Homo sapiens_hsa040700.38259523
101RNA polymerase_Homo sapiens_hsa030200.37899231
102GABAergic synapse_Homo sapiens_hsa047270.36601674
103PPAR signaling pathway_Homo sapiens_hsa033200.36221278
104Long-term depression_Homo sapiens_hsa047300.36145569
105Glioma_Homo sapiens_hsa052140.35644568
106Lysine degradation_Homo sapiens_hsa003100.35036410
107Thyroid cancer_Homo sapiens_hsa052160.34806527
108Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.34732716
109Antigen processing and presentation_Homo sapiens_hsa046120.34149675
110Dorso-ventral axis formation_Homo sapiens_hsa043200.34068882
111Prostate cancer_Homo sapiens_hsa052150.33315888
112Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.32311444
113Ether lipid metabolism_Homo sapiens_hsa005650.31643122
114B cell receptor signaling pathway_Homo sapiens_hsa046620.31532424
115Fatty acid biosynthesis_Homo sapiens_hsa000610.30894011
116Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.29914784
117cAMP signaling pathway_Homo sapiens_hsa040240.28325275
118Arachidonic acid metabolism_Homo sapiens_hsa005900.27764825
119Steroid hormone biosynthesis_Homo sapiens_hsa001400.26919946
120Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.26769286
121Influenza A_Homo sapiens_hsa051640.26659216
122mTOR signaling pathway_Homo sapiens_hsa041500.26073972
123Renin secretion_Homo sapiens_hsa049240.25858608
124Adipocytokine signaling pathway_Homo sapiens_hsa049200.25697731
125Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.23747494
126Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.23585665
127Thyroid hormone signaling pathway_Homo sapiens_hsa049190.21947255
128Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.21600244
129Inositol phosphate metabolism_Homo sapiens_hsa005620.21266583
130Ovarian steroidogenesis_Homo sapiens_hsa049130.20967258
131AMPK signaling pathway_Homo sapiens_hsa041520.20717817
132Tyrosine metabolism_Homo sapiens_hsa003500.20117863
133Glycerophospholipid metabolism_Homo sapiens_hsa005640.18620176
134Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.18351458
135Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.18034176
136Melanogenesis_Homo sapiens_hsa049160.17964520
137Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.15614405
138Morphine addiction_Homo sapiens_hsa050320.15233582
139FoxO signaling pathway_Homo sapiens_hsa040680.14841659
140GnRH signaling pathway_Homo sapiens_hsa049120.13677587
141Neurotrophin signaling pathway_Homo sapiens_hsa047220.13467001
142Fatty acid degradation_Homo sapiens_hsa000710.11745061
143Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.10991373
144Renin-angiotensin system_Homo sapiens_hsa046140.10461871
145Chronic myeloid leukemia_Homo sapiens_hsa052200.10004915
146Endometrial cancer_Homo sapiens_hsa052130.09890285

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