MC1R

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 intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1negative regulation of execution phase of apoptosis (GO:1900118)5.95133270
2short-term memory (GO:0007614)5.86360962
3presynaptic membrane assembly (GO:0097105)5.84791568
4GDP-mannose metabolic process (GO:0019673)5.74515609
5mannose metabolic process (GO:0006013)5.73468189
6axon ensheathment in central nervous system (GO:0032291)5.57059277
7central nervous system myelination (GO:0022010)5.57059277
8cellular response to ATP (GO:0071318)5.34615362
9ribosomal small subunit biogenesis (GO:0042274)5.30092639
10presynaptic membrane organization (GO:0097090)5.07147055
11regulation of ARF GTPase activity (GO:0032312)5.04174938
12viral transcription (GO:0019083)5.02938859
13postsynaptic membrane organization (GO:0001941)4.99389975
14semaphorin-plexin signaling pathway (GO:0071526)4.99221633
15translational termination (GO:0006415)4.72256351
16adenosine receptor signaling pathway (GO:0001973)4.64264439
17urinary tract smooth muscle contraction (GO:0014848)4.32618995
18regulation of hydrogen peroxide metabolic process (GO:0010310)4.23800326
19cotranslational protein targeting to membrane (GO:0006613)4.17633930
20SRP-dependent cotranslational protein targeting to membrane (GO:0006614)4.14732666
21protein targeting to ER (GO:0045047)4.14152550
22negative regulation of cell size (GO:0045792)4.13695516
23positive regulation of type I interferon-mediated signaling pathway (GO:0060340)4.10841206
24GMP metabolic process (GO:0046037)4.09065449
25sensory perception of taste (GO:0050909)4.02306892
26positive regulation of synaptic transmission, dopaminergic (GO:0032226)4.01171568
27cell-cell junction maintenance (GO:0045217)3.98500181
28establishment of protein localization to endoplasmic reticulum (GO:0072599)3.98435550
29protein localization to endoplasmic reticulum (GO:0070972)3.86978318
30protein carboxylation (GO:0018214)3.86464638
31peptidyl-glutamic acid carboxylation (GO:0017187)3.86464638
32protein heterotetramerization (GO:0051290)3.78927136
33mesonephros development (GO:0001823)3.75164286
34cranial nerve morphogenesis (GO:0021602)3.71080158
35maturation of SSU-rRNA (GO:0030490)3.68075834
36facial nerve structural organization (GO:0021612)3.67621167
37metanephric tubule development (GO:0072170)3.59609181
38metanephric nephron tubule development (GO:0072234)3.59609181
39developmental pigmentation (GO:0048066)3.57022784
40response to folic acid (GO:0051593)3.56585956
41eyelid development in camera-type eye (GO:0061029)3.55673612
42omega-hydroxylase P450 pathway (GO:0097267)3.53728195
43limb bud formation (GO:0060174)3.52745156
44regulation of pigment cell differentiation (GO:0050932)3.52597957
45regulation of skeletal muscle contraction (GO:0014819)3.51229930
46pattern specification involved in kidney development (GO:0061004)3.50736207
47basement membrane organization (GO:0071711)3.50683245
48negative regulation of keratinocyte proliferation (GO:0010839)3.49784298
49negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)3.46388296
50histone H4 deacetylation (GO:0070933)3.46173643
51sex determination (GO:0007530)3.46137361
52cellular protein complex disassembly (GO:0043624)3.45297901
53positive regulation of cellular amine metabolic process (GO:0033240)3.44403633
54snRNA metabolic process (GO:0016073)3.44176433
55DNA methylation involved in gamete generation (GO:0043046)3.42356673
56viral life cycle (GO:0019058)3.41052063
57endocytic recycling (GO:0032456)3.38790852
58gonadal mesoderm development (GO:0007506)3.38609323
59negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)3.38427994
60lymphoid progenitor cell differentiation (GO:0002320)3.37037865
61ribosomal large subunit biogenesis (GO:0042273)3.35769071
62response to ATP (GO:0033198)3.33615412
63adenine nucleotide transport (GO:0051503)3.32190220
64translational elongation (GO:0006414)3.31228272
65negative regulation of cell aging (GO:0090344)3.31177731
66DNA strand renaturation (GO:0000733)3.31155990
67planar cell polarity pathway involved in neural tube closure (GO:0090179)3.29968212
68mesenchymal cell differentiation involved in kidney development (GO:0072161)3.28810776
69mesenchymal cell differentiation involved in renal system development (GO:2001012)3.28810776
70neuronal action potential propagation (GO:0019227)3.27465728
71metanephric nephron epithelium development (GO:0072243)3.25929361
72positive regulation of calcium ion import (GO:0090280)3.23992658
73purine ribonucleotide transport (GO:0015868)3.23367697
74snRNA processing (GO:0016180)3.22688452
75positive regulation of histone deacetylation (GO:0031065)3.21325038
76cranial nerve structural organization (GO:0021604)3.19434626
77rRNA methylation (GO:0031167)3.16480567
78metanephric epithelium development (GO:0072207)3.15594098
79DNA ligation (GO:0006266)3.13841633
80regulation of synapse structural plasticity (GO:0051823)3.13758487
81G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)3.12982653
82keratinocyte development (GO:0003334)3.11630250
83retina layer formation (GO:0010842)3.11491874
84proteasome assembly (GO:0043248)3.11071147
85meiotic chromosome segregation (GO:0045132)3.09542545
86negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)3.07293942
87regulation of somitogenesis (GO:0014807)3.06249067
88nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.05351262
89adherens junction assembly (GO:0034333)3.04702824
90regulation of histone H3-K27 methylation (GO:0061085)3.03546564
91lung epithelium development (GO:0060428)3.02776454
92organ growth (GO:0035265)3.02216136
93positive regulation of CREB transcription factor activity (GO:0032793)3.02200121
94focal adhesion assembly (GO:0048041)3.01225455
95cell-substrate adherens junction assembly (GO:0007045)3.01225455
96insulin-like growth factor receptor signaling pathway (GO:0048009)3.00825005
97purinergic nucleotide receptor signaling pathway (GO:0035590)3.00755143
98protein retention in ER lumen (GO:0006621)2.99717176
99lens fiber cell differentiation (GO:0070306)2.99232176
100sphingoid metabolic process (GO:0046519)2.98496978
101atrioventricular valve morphogenesis (GO:0003181)2.95229343
102embryonic body morphogenesis (GO:0010172)2.94267757
103otic vesicle formation (GO:0030916)2.94175922
104cell migration in hindbrain (GO:0021535)2.93010970
105phosphatidylethanolamine biosynthetic process (GO:0006646)2.92276149
106histone H3 deacetylation (GO:0070932)2.91959972
107nephron epithelium development (GO:0072009)2.91917686
108GTP biosynthetic process (GO:0006183)2.91420202
109retrograde transport, endosome to Golgi (GO:0042147)2.91343043
110ribosomal small subunit assembly (GO:0000028)2.89646044
111negative regulation of transcription by competitive promoter binding (GO:0010944)2.88594059
112centriole replication (GO:0007099)2.87746027
113mRNA cleavage (GO:0006379)2.87626387
114long-chain fatty acid biosynthetic process (GO:0042759)2.86737461
115endothelial cell chemotaxis (GO:0035767)2.86096874
116regulation of fatty acid beta-oxidation (GO:0031998)2.85790518
117cell junction maintenance (GO:0034331)2.85632045
118body morphogenesis (GO:0010171)2.85455873
119regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.85310467
120purine nucleotide transport (GO:0015865)2.84540178
121regulation of cytokine production involved in inflammatory response (GO:1900015)2.83711328
122anatomical structure regression (GO:0060033)2.81216587
123negative regulation of peptidyl-threonine phosphorylation (GO:0010801)2.80710311
124urogenital system development (GO:0001655)2.79554265
125translational initiation (GO:0006413)2.79400599
126amino sugar catabolic process (GO:0046348)2.78217837
127regulation of timing of cell differentiation (GO:0048505)2.78182953
128negative regulation of leukocyte chemotaxis (GO:0002689)2.77588938
129endothelium development (GO:0003158)2.77304221
130neuron cell-cell adhesion (GO:0007158)2.76741758
131negative regulation of fatty acid transport (GO:2000192)2.76500723
132protein complex disassembly (GO:0043241)2.75251162
133cellular response to virus (GO:0098586)2.74899942
134mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.72990841
135actin filament bundle assembly (GO:0051017)2.72835408
136actin filament bundle organization (GO:0061572)2.72835408
137positive regulation of inositol phosphate biosynthetic process (GO:0060732)2.71936197
138positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr2.69401521
139photoreceptor cell differentiation (GO:0046530)2.68701118
140eye photoreceptor cell differentiation (GO:0001754)2.68701118
141righting reflex (GO:0060013)2.67538213
142superoxide anion generation (GO:0042554)2.66171974
143oligodendrocyte differentiation (GO:0048709)2.65633325
144histone H3-K9 demethylation (GO:0033169)2.63528085
145vascular endothelial growth factor signaling pathway (GO:0038084)2.63302308
146maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.61304298
147positive regulation of meiotic cell cycle (GO:0051446)2.60840730
148GPI anchor biosynthetic process (GO:0006506)2.60653954
149* melanin metabolic process (GO:0006582)2.60444199
150thyroid gland development (GO:0030878)2.59594520
151peristalsis (GO:0030432)2.57671135
152positive regulation of meiosis (GO:0045836)2.57346215
153sympathetic nervous system development (GO:0048485)2.57257447
154macromolecular complex disassembly (GO:0032984)2.56057010
155negative regulation of myoblast differentiation (GO:0045662)2.54650828
156regulation of mammary gland epithelial cell proliferation (GO:0033599)2.54475220
157cornea development in camera-type eye (GO:0061303)2.54249324
158negative regulation of catenin import into nucleus (GO:0035414)2.53863035
159protein targeting to membrane (GO:0006612)2.52986382
160* melanin biosynthetic process (GO:0042438)2.51472734
161centriole assembly (GO:0098534)2.51153652
162termination of RNA polymerase III transcription (GO:0006386)2.51076473
163transcription elongation from RNA polymerase III promoter (GO:0006385)2.51076473
164regulation of development, heterochronic (GO:0040034)2.50567591
165negative regulation of interleukin-8 production (GO:0032717)2.50061874
166regulation of cholesterol biosynthetic process (GO:0045540)2.49558602
167protein insertion into membrane (GO:0051205)2.49025759
168COPI coating of Golgi vesicle (GO:0048205)2.48054381
169Golgi transport vesicle coating (GO:0048200)2.48054381
170phosphatidylglycerol biosynthetic process (GO:0006655)2.47365338
171purinergic receptor signaling pathway (GO:0035587)2.46740374
172vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.46654341
173receptor catabolic process (GO:0032801)2.46589948
174enteric nervous system development (GO:0048484)2.46285227
175spermatid nucleus differentiation (GO:0007289)2.46091293
176interkinetic nuclear migration (GO:0022027)2.45982245
177activation of JUN kinase activity (GO:0007257)2.45456268
178phosphatidylethanolamine metabolic process (GO:0046337)2.44297296
179positive regulation of blood vessel endothelial cell migration (GO:0043536)2.43714171
180nephron tubule development (GO:0072080)2.43099294
181histone phosphorylation (GO:0016572)2.41551803
182regulation of execution phase of apoptosis (GO:1900117)2.41528965
183import into cell (GO:0098657)2.40833820
184photoreceptor cell maintenance (GO:0045494)2.40280464
185phosphate ion homeostasis (GO:0055062)2.40020701
186trivalent inorganic anion homeostasis (GO:0072506)2.40020701
187DNA deamination (GO:0045006)2.39867088
188regulation of cholesterol metabolic process (GO:0090181)2.39401038
189glucosamine-containing compound catabolic process (GO:1901072)2.39198969
190diacylglycerol metabolic process (GO:0046339)2.37757758
191positive regulation of synapse assembly (GO:0051965)2.37280961
192purine nucleoside bisphosphate biosynthetic process (GO:0034033)2.35802442
193ribonucleoside bisphosphate biosynthetic process (GO:0034030)2.35802442
194nucleoside bisphosphate biosynthetic process (GO:0033866)2.35802442
195negative regulation of TOR signaling (GO:0032007)2.35299267
196histone deubiquitination (GO:0016578)2.34010642
197positive regulation of synapse maturation (GO:0090129)2.33030242
198modulation by virus of host process (GO:0019054)2.32192934
199sphingomyelin metabolic process (GO:0006684)2.31994271
200nucleotide-sugar biosynthetic process (GO:0009226)2.31331276

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1SOX9_22984422_ChIP-ChIP_TESTIS_Rat5.38130411
2EZH2_22144423_ChIP-Seq_EOC_Human4.61840625
3STAT6_21828071_ChIP-Seq_BEAS2B_Human3.56881983
4CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human3.40000335
5VDR_21846776_ChIP-Seq_THP-1_Human3.38237155
6* LXR_22292898_ChIP-Seq_THP-1_Human3.30274112
7EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse3.00008304
8RARG_19884340_ChIP-ChIP_MEFs_Mouse2.91927637
9JARID2_20064375_ChIP-Seq_MESCs_Mouse2.81500132
10TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse2.79011946
11CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human2.73964343
12KDM2B_26808549_Chip-Seq_SUP-B15_Human2.64862655
13BMI1_23680149_ChIP-Seq_NPCS_Mouse2.64276841
14PCGF2_27294783_Chip-Seq_ESCs_Mouse2.64040074
15* RACK7_27058665_Chip-Seq_MCF-7_Human2.63329375
16EZH2_27304074_Chip-Seq_ESCs_Mouse2.62598247
17P68_20966046_ChIP-Seq_HELA_Human2.60322835
18TAF15_26573619_Chip-Seq_HEK293_Human2.57991041
19ZFP57_27257070_Chip-Seq_ESCs_Mouse2.55708855
20GBX2_23144817_ChIP-Seq_PC3_Human2.55144007
21EED_16625203_ChIP-ChIP_MESCs_Mouse2.54920890
22CBX2_27304074_Chip-Seq_ESCs_Mouse2.53001165
23FLI1_27457419_Chip-Seq_LIVER_Mouse2.52642177
24GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.48373796
25KDM2B_26808549_Chip-Seq_SIL-ALL_Human2.37571821
26HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.31963760
27ESR2_21235772_ChIP-Seq_MCF-7_Human2.27918407
28SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.23902092
29* ELK3_25401928_ChIP-Seq_HUVEC_Human2.22244865
30* KDM2B_26808549_Chip-Seq_DND41_Human2.21954980
31THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.19639451
32MYC_22102868_ChIP-Seq_BL_Human2.16709858
33PHC1_16625203_ChIP-ChIP_MESCs_Mouse2.15026832
34SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.12852860
35TFAP2C_20629094_ChIP-Seq_MCF-7_Human2.12476521
36TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.11244231
37SUZ12_27294783_Chip-Seq_NPCs_Mouse2.09883549
38SMC4_20622854_ChIP-Seq_HELA_Human2.09238389
39VDR_22108803_ChIP-Seq_LS180_Human2.06255836
40ERG_21242973_ChIP-ChIP_JURKAT_Human2.05249142
41KDM2B_26808549_Chip-Seq_K562_Human2.04711560
42JARID2_20075857_ChIP-Seq_MESCs_Mouse2.02936398
43TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.00114126
44EZH2_18974828_ChIP-Seq_MESCs_Mouse1.99785698
45RNF2_18974828_ChIP-Seq_MESCs_Mouse1.99785698
46* CTCF_27219007_Chip-Seq_Bcells_Human1.99682735
47SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.99409551
48AR_21572438_ChIP-Seq_LNCaP_Human1.99165546
49RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.98311021
50PCGF2_27294783_Chip-Seq_NPCs_Mouse1.98198132
51NFE2_27457419_Chip-Seq_LIVER_Mouse1.98194801
52TCF7_22412390_ChIP-Seq_EML_Mouse1.97966265
53POU5F1_16153702_ChIP-ChIP_HESCs_Human1.97558194
54RNF2_27304074_Chip-Seq_NSC_Mouse1.96980867
55* TET1_21451524_ChIP-Seq_MESCs_Mouse1.96007317
56SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.95686094
57DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.94492213
58* MAF_26560356_Chip-Seq_TH2_Human1.92673848
59SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.92289976
60* CTCF_27219007_Chip-Seq_ERYTHROID_Human1.92010654
61MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.87818036
62* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.87772858
63BCOR_27268052_Chip-Seq_Bcells_Human1.83363163
64BCL6_27268052_Chip-Seq_Bcells_Human1.80820455
65SA1_27219007_Chip-Seq_ERYTHROID_Human1.79516025
66E2F1_20622854_ChIP-Seq_HELA_Human1.77036159
67ELF1_20517297_ChIP-Seq_JURKAT_Human1.76779016
68CREB1_26743006_Chip-Seq_LNCaP_Human1.75750161
69SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.75675861
70EZH2_27294783_Chip-Seq_NPCs_Mouse1.74146257
71BP1_19119308_ChIP-ChIP_Hs578T_Human1.72565626
72EZH2_27294783_Chip-Seq_ESCs_Mouse1.71732858
73SUZ12_27294783_Chip-Seq_ESCs_Mouse1.70909716
74POU3F2_20337985_ChIP-ChIP_501MEL_Human1.70739989
75ZNF263_19887448_ChIP-Seq_K562_Human1.69285138
76IRF1_19129219_ChIP-ChIP_H3396_Human1.67918544
77RUNX1_27514584_Chip-Seq_MCF-7_Human1.66265696
78VDR_24763502_ChIP-Seq_THP-1_Human1.65718158
79PHF8_20622854_ChIP-Seq_HELA_Human1.65146347
80ER_23166858_ChIP-Seq_MCF-7_Human1.64243654
81CDX2_19796622_ChIP-Seq_MESCs_Mouse1.62675680
82SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.61796740
83EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.61103674
84MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.60921615
85UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.60309082
86SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.60098478
87CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.59516266
88KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.59506048
89KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.59506048
90KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.59506048
91EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.58072233
92CTBP1_25329375_ChIP-Seq_LNCAP_Human1.56063059
93* MAF_26560356_Chip-Seq_TH1_Human1.55786505
94RARB_24833708_ChIP-Seq_LIVER_Mouse1.55025427
95NANOG_18555785_Chip-Seq_ESCs_Mouse1.53072098
96TP53_22127205_ChIP-Seq_IMR90_Human1.52852381
97RNF2_27304074_Chip-Seq_ESCs_Mouse1.52385033
98IGF1R_20145208_ChIP-Seq_DFB_Human1.52163403
99P300_18555785_Chip-Seq_ESCs_Mouse1.51800348
100DNAJC2_21179169_ChIP-ChIP_NT2_Human1.51099166
101P53_22387025_ChIP-Seq_ESCs_Mouse1.50531667
102SUZ12_18555785_Chip-Seq_ESCs_Mouse1.49644411
103E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.49084951
104ESR1_21235772_ChIP-Seq_MCF-7_Human1.47512143
105KDM2B_26808549_Chip-Seq_JURKAT_Human1.46830165
106NMYC_18555785_Chip-Seq_ESCs_Mouse1.45329288
107E2F1_18555785_Chip-Seq_ESCs_Mouse1.45271085
108E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.45218502
109RUNX1_27457419_Chip-Seq_LIVER_Mouse1.44882438
110TP63_17297297_ChIP-ChIP_HaCaT_Human1.43430729
111* RARA_24833708_ChIP-Seq_LIVER_Mouse1.42727124
112P300_19829295_ChIP-Seq_ESCs_Human1.40455719
113PIAS1_25552417_ChIP-Seq_VCAP_Human1.39451974
114CTBP2_25329375_ChIP-Seq_LNCAP_Human1.38414834
115ZFP281_18757296_ChIP-ChIP_E14_Mouse1.38408835
116STAT3_18555785_Chip-Seq_ESCs_Mouse1.37603710
117PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.37469605
118TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.37202720
119KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.35857605
120FOXP1_21924763_ChIP-Seq_HESCs_Human1.33928764
121CMYC_18555785_Chip-Seq_ESCs_Mouse1.33468453
122TP63_22573176_ChIP-Seq_HFKS_Human1.33256303
123IKZF1_21737484_ChIP-ChIP_HCT116_Human1.33212413
124UTX_26944678_Chip-Seq_JUKART_Human1.32460834
125MTF2_20144788_ChIP-Seq_MESCs_Mouse1.31841282
126* CTCF_21964334_Chip-Seq_Bcells_Human1.31173198
127* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.28895472
128TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.28594929
129* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.28349378
130ATF3_27146783_Chip-Seq_COLON_Human1.28272013
131WT1_19549856_ChIP-ChIP_CCG9911_Human1.28066359
132KLF4_18555785_Chip-Seq_ESCs_Mouse1.27506696
133FUS_26573619_Chip-Seq_HEK293_Human1.27206689
134SOX2_18555785_Chip-Seq_ESCs_Mouse1.27055932
135SA1_27219007_Chip-Seq_Bcells_Human1.26798491
136ZFX_18555785_Chip-Seq_ESCs_Mouse1.26601319
137TAL1_26923725_Chip-Seq_HPCs_Mouse1.24677907
138NCOR1_26117541_ChIP-Seq_K562_Human1.24611118
139OCT4_18555785_Chip-Seq_ESCs_Mouse1.24593386
140ZFP281_27345836_Chip-Seq_ESCs_Mouse1.22615936
141SMAD3_21741376_ChIP-Seq_EPCs_Human1.21561277
142SRY_22984422_ChIP-ChIP_TESTIS_Rat1.21359545
143* CTCF_21964334_ChIP-Seq_BJAB-B_Human1.21240058
144CTCF_20526341_ChIP-Seq_ESCs_Human1.21153872
145SMAD1_18555785_Chip-Seq_ESCs_Mouse1.18560661
146SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.18444172
147CRX_20693478_ChIP-Seq_RETINA_Mouse1.18086039
148DROSHA_22980978_ChIP-Seq_HELA_Human1.17630391
149ESR1_20079471_ChIP-ChIP_T-47D_Human1.17416187
150NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.17118073
151RXRA_24833708_ChIP-Seq_LIVER_Mouse1.16584848
152ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.16433695
153ESRRB_18555785_Chip-Seq_ESCs_Mouse1.16019746
154PU1_27457419_Chip-Seq_LIVER_Mouse1.15297258
155JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse1.14863887
156OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.13441740
157P300_27058665_Chip-Seq_ZR-75-30cells_Human1.13095034
158CTCF_18555785_Chip-Seq_ESCs_Mouse1.12331303
159* PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.11971876
160RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.10572378
161* UBF1/2_26484160_Chip-Seq_HMECs_Human1.10237224
162* ETS1_21867929_ChIP-Seq_TH2_Mouse1.10175166
163CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.10091964
164OCT4_21477851_ChIP-Seq_ESCs_Mouse1.09125710
165NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.08995862
166SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.08883399
167OCT4_19829295_ChIP-Seq_ESCs_Human1.08878863
168TP53_23651856_ChIP-Seq_MEFs_Mouse1.08808154
169SETDB1_19884255_ChIP-Seq_MESCs_Mouse1.07026081
170SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.07014169
171CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.06604989
172XRN2_22483619_ChIP-Seq_HELA_Human1.05791045
173RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.05232720
174KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.05072763
175WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.04805719
176KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.03287681
177ERA_21632823_ChIP-Seq_H3396_Human1.02780960
178YY1_22570637_ChIP-Seq_MALME-3M_Human1.02644487
179NOTCH1_21737748_ChIP-Seq_TLL_Human1.01963157
180TP53_18474530_ChIP-ChIP_U2OS_Human1.01901665
181SMC3_22415368_ChIP-Seq_MEFs_Mouse1.01592342
182P63_26484246_Chip-Seq_KERATINOCYTES_Human1.01169719
183FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.01082315
184PPARA_22158963_ChIP-Seq_LIVER_Mouse1.01039769
185CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00404001
186PU.1_20513432_ChIP-Seq_Bcells_Mouse0.99359768
187CTCF_26484167_Chip-Seq_Bcells_Mouse0.99254782
188CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.97972966
189SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.97595660
190LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse0.96485993
191TP53_20018659_ChIP-ChIP_R1E_Mouse0.96427240
192UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.95934403
193SMAD_19615063_ChIP-ChIP_OVARY_Human0.95499630
194TOP2B_26459242_ChIP-Seq_MCF-7_Human0.95198576
195EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.94988446
196RUNX2_22187159_ChIP-Seq_PCA_Human0.94338138
197KDM2B_26808549_Chip-Seq_REH_Human0.94043277
198RING1B_27294783_Chip-Seq_NPCs_Mouse0.93619906
199STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.93074025
200CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.91710269

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009379_abnormal_foot_pigmentation6.27113862
2MP0006292_abnormal_olfactory_placode4.02374159
3MP0003705_abnormal_hypodermis_morpholog3.66807323
4MP0005058_abnormal_lysosome_morphology3.63638960
5* MP0003136_yellow_coat_color3.62807799
6* MP0004381_abnormal_hair_follicle3.53328928
7MP0003880_abnormal_central_pattern3.36519831
8MP0002102_abnormal_ear_morphology3.21882278
9MP0003172_abnormal_lysosome_physiology3.12286417
10MP0000013_abnormal_adipose_tissue3.08201488
11MP0005171_absent_coat_pigmentation2.98764416
12MP0000372_irregular_coat_pigmentation2.79848427
13MP0005076_abnormal_cell_differentiation2.74793856
14MP0000566_synostosis2.68589391
15MP0000003_abnormal_adipose_tissue2.54308328
16MP0002277_abnormal_respiratory_mucosa2.36570279
17MP0000751_myopathy2.30511919
18MP0003938_abnormal_ear_development2.23231269
19MP0009840_abnormal_foam_cell2.22150559
20MP0000678_abnormal_parathyroid_gland2.21877520
21MP0003724_increased_susceptibility_to2.20197332
22MP0001502_abnormal_circadian_rhythm2.18490280
23MP0004742_abnormal_vestibular_system2.17521421
24MP0001849_ear_inflammation2.14679074
25MP0001756_abnormal_urination2.12378432
26MP0001348_abnormal_lacrimal_gland2.09356964
27MP0005083_abnormal_biliary_tract2.07678356
28MP0002638_abnormal_pupillary_reflex1.94850459
29* MP0001188_hyperpigmentation1.87298677
30MP0002249_abnormal_larynx_morphology1.86837819
31MP0003315_abnormal_perineum_morphology1.79880693
32* MP0005409_darkened_coat_color1.78715905
33MP0000049_abnormal_middle_ear1.76146731
34MP0003941_abnormal_skin_development1.71653644
35MP0005075_abnormal_melanosome_morpholog1.70210344
36MP0004858_abnormal_nervous_system1.66252042
37MP0003878_abnormal_ear_physiology1.65665418
38MP0005377_hearing/vestibular/ear_phenot1.65665418
39MP0001958_emphysema1.64216397
40MP0002089_abnormal_postnatal_growth/wei1.63798659
41MP0003011_delayed_dark_adaptation1.63444219
42MP0005257_abnormal_intraocular_pressure1.61224926
43MP0009250_abnormal_appendicular_skeleto1.56537838
44MP0000538_abnormal_urinary_bladder1.55974315
45MP0004142_abnormal_muscle_tone1.54934569
46MP0004233_abnormal_muscle_weight1.54783724
47MP0008260_abnormal_autophagy1.54524284
48MP0003091_abnormal_cell_migration1.53708216
49MP0005375_adipose_tissue_phenotype1.53504060
50* MP0002177_abnormal_outer_ear1.52140164
51MP0000026_abnormal_inner_ear1.49351485
52MP0001986_abnormal_taste_sensitivity1.47521733
53MP0003718_maternal_effect1.46202908
54MP0000579_abnormal_nail_morphology1.44894288
55MP0001486_abnormal_startle_reflex1.44182795
56MP0002938_white_spotting1.43852001
57MP0002933_joint_inflammation1.42088275
58* MP0003453_abnormal_keratinocyte_physiol1.41145651
59MP0000613_abnormal_salivary_gland1.40659406
60MP0000631_abnormal_neuroendocrine_gland1.33993580
61MP0004043_abnormal_pH_regulation1.32915454
62MP0006276_abnormal_autonomic_nervous1.29731465
63MP0000920_abnormal_myelination1.29242802
64MP0000750_abnormal_muscle_regeneration1.26073314
65MP0009278_abnormal_bone_marrow1.23718909
66MP0000762_abnormal_tongue_morphology1.23429364
67MP0009384_cardiac_valve_regurgitation1.22866775
68MP0003279_aneurysm1.21722610
69* MP0002095_abnormal_skin_pigmentation1.21647348
70MP0003937_abnormal_limbs/digits/tail_de1.19489098
71MP0005408_hypopigmentation1.18926534
72MP0005551_abnormal_eye_electrophysiolog1.17234326
73MP0005423_abnormal_somatic_nervous1.17191106
74MP0002751_abnormal_autonomic_nervous1.16742369
75MP0001905_abnormal_dopamine_level1.16444758
76MP0008995_early_reproductive_senescence1.16216692
77MP0001873_stomach_inflammation1.15062723
78MP0005501_abnormal_skin_physiology1.14041055
79MP0001346_abnormal_lacrimal_gland1.13655299
80MP0001340_abnormal_eyelid_morphology1.13494384
81MP0003879_abnormal_hair_cell1.13245684
82* MP0005174_abnormal_tail_pigmentation1.10136670
83MP0000383_abnormal_hair_follicle1.09946589
84MP0000778_abnormal_nervous_system1.08351526
85* MP0002075_abnormal_coat/hair_pigmentati1.06986079
86MP0002752_abnormal_somatic_nervous1.04182923
87MP0005666_abnormal_adipose_tissue1.02644156
88MP0001963_abnormal_hearing_physiology1.01632158
89MP0005503_abnormal_tendon_morphology1.01372266
90MP0005595_abnormal_vascular_smooth1.00926543
91MP0005330_cardiomyopathy1.00122451
92MP0005670_abnormal_white_adipose0.99674161
93MP0005379_endocrine/exocrine_gland_phen0.99489058
94MP0002877_abnormal_melanocyte_morpholog0.99332890
95MP0002009_preneoplasia0.99098102
96MP0002272_abnormal_nervous_system0.98229683
97MP0002098_abnormal_vibrissa_morphology0.98222623
98MP0000767_abnormal_smooth_muscle0.95764565
99MP0001765_abnormal_ion_homeostasis0.94235359
100MP0000747_muscle_weakness0.94195293
101* MP0000367_abnormal_coat/_hair0.93105412
102MP0005023_abnormal_wound_healing0.92449937
103MP0001485_abnormal_pinna_reflex0.92383754
104MP0000681_abnormal_thyroid_gland0.91775617
105MP0000467_abnormal_esophagus_morphology0.91741516
106* MP0000015_abnormal_ear_pigmentation0.91248252
107MP0002282_abnormal_trachea_morphology0.90127529
108MP0009745_abnormal_behavioral_response0.89950726
109MP0004185_abnormal_adipocyte_glucose0.89193663
110MP0005410_abnormal_fertilization0.87844088
111MP0003385_abnormal_body_wall0.86682940
112* MP0002067_abnormal_sensory_capabilities0.86534918
113MP0009764_decreased_sensitivity_to0.85892537
114MP0005084_abnormal_gallbladder_morpholo0.85560362
115MP0009046_muscle_twitch0.84753415
116MP0006072_abnormal_retinal_apoptosis0.84232828
117MP0001270_distended_abdomen0.83828833
118MP0005248_abnormal_Harderian_gland0.82809601
119* MP0009931_abnormal_skin_appearance0.82174859
120MP0003115_abnormal_respiratory_system0.80738561
121MP0002163_abnormal_gland_morphology0.79393803
122MP0000647_abnormal_sebaceous_gland0.79299704
123MP0002148_abnormal_hypersensitivity_rea0.79242447
124MP0001661_extended_life_span0.78664474
125MP0002254_reproductive_system_inflammat0.77729968
126MP0002557_abnormal_social/conspecific_i0.77383774
127MP0005451_abnormal_body_composition0.76664135
128MP0005165_increased_susceptibility_to0.76410102
129MP0004947_skin_inflammation0.76021625
130MP0001286_abnormal_eye_development0.74921304
131MP0008875_abnormal_xenobiotic_pharmacok0.74137329
132MP0003950_abnormal_plasma_membrane0.73835749
133MP0005253_abnormal_eye_physiology0.73638886
134MP0003942_abnormal_urinary_system0.73376139
135MP0005195_abnormal_posterior_eye0.73152429
136MP0002796_impaired_skin_barrier0.71958436
137MP0003755_abnormal_palate_morphology0.71517272
138MP0004130_abnormal_muscle_cell0.71392477
139MP0003303_peritoneal_inflammation0.71369104
140MP0001664_abnormal_digestion0.69620541
141MP0002735_abnormal_chemical_nociception0.69578375
142* MP0000371_diluted_coat_color0.69190146
143MP0003828_pulmonary_edema0.68670085
144* MP0001186_pigmentation_phenotype0.68238270
145MP0000470_abnormal_stomach_morphology0.67987719
146MP0002184_abnormal_innervation0.67755318
147MP0002132_abnormal_respiratory_system0.67469117
148MP0005645_abnormal_hypothalamus_physiol0.67132434
149MP0000358_abnormal_cell_content/0.67001327
150MP0005584_abnormal_enzyme/coenzyme_acti0.66446549
151MP0000733_abnormal_muscle_development0.65952258
152MP0001919_abnormal_reproductive_system0.65695135
153MP0002998_abnormal_bone_remodeling0.65670282
154MP0005621_abnormal_cell_physiology0.64426648
155MP0000432_abnormal_head_morphology0.63679423
156MP0008438_abnormal_cutaneous_collagen0.62261303
157MP0005381_digestive/alimentary_phenotyp0.62021365
158MP0002064_seizures0.61239743
159MP0002734_abnormal_mechanical_nocicepti0.60469267
160MP0010234_abnormal_vibrissa_follicle0.60311322
161MP0002932_abnormal_joint_morphology0.60096479
162MP0002233_abnormal_nose_morphology0.59846553
163* MP0001970_abnormal_pain_threshold0.59723266
164MP0002876_abnormal_thyroid_physiology0.59547206
165MP0005197_abnormal_uvea_morphology0.58414288
166MP0000759_abnormal_skeletal_muscle0.57977055
167MP0000377_abnormal_hair_follicle0.57391466
168MP0004510_myositis0.56870891
169MP0005391_vision/eye_phenotype0.56621834
170MP0004264_abnormal_extraembryonic_tissu0.56269450
171MP0001324_abnormal_eye_pigmentation0.56054075
172MP0010386_abnormal_urinary_bladder0.55714880
173MP0005360_urolithiasis0.54986305
174MP0009643_abnormal_urine_homeostasis0.54718408
175MP0004272_abnormal_basement_membrane0.53519696
176MP0002060_abnormal_skin_morphology0.53426836
177MP0002136_abnormal_kidney_physiology0.53222345
178MP0005365_abnormal_bile_salt0.52338357
179MP0003123_paternal_imprinting0.52119080
180MP0003948_abnormal_gas_homeostasis0.52044588
181MP0003045_fibrosis0.52028830

Predicted human phenotypes

RankGene SetZ-score
1Thin bony cortex (HP:0002753)5.86320869
2Abnormality of the axillary hair (HP:0100134)5.58179404
3Abnormality of secondary sexual hair (HP:0009888)5.58179404
4Ulnar bowing (HP:0003031)5.34618246
5Sex reversal (HP:0012245)4.85442005
6Abnormal sex determination (HP:0012244)4.85442005
7Testicular atrophy (HP:0000029)4.63009163
8Turricephaly (HP:0000262)4.02223862
9Facial hemangioma (HP:0000329)4.00975203
10Poikiloderma (HP:0001029)4.00577689
11Annular pancreas (HP:0001734)3.97080936
12Rib fusion (HP:0000902)3.94991570
13Obstructive sleep apnea (HP:0002870)3.78822736
14Concave nail (HP:0001598)3.68330444
15Intestinal fistula (HP:0100819)3.59679225
16Parakeratosis (HP:0001036)3.57147535
17Vaginal fistula (HP:0004320)3.48635631
18Akinesia (HP:0002304)3.41046529
19Reticulocytopenia (HP:0001896)3.39432363
20Joint stiffness (HP:0001387)3.36091573
21Septo-optic dysplasia (HP:0100842)3.34169907
22Male infertility (HP:0003251)3.32269561
23Hemorrhage of the eye (HP:0011885)3.30021112
24Congenital nonbullous ichthyosiform erythroderma (HP:0007479)3.23938710
25Rectal fistula (HP:0100590)3.22924838
26Rectovaginal fistula (HP:0000143)3.22924838
27Absent septum pellucidum (HP:0001331)3.19174574
28Attenuation of retinal blood vessels (HP:0007843)3.16113060
29Abnormality of the septum pellucidum (HP:0007375)3.09533379
30Optic nerve hypoplasia (HP:0000609)3.05929905
31Abnormality of cells of the erythroid lineage (HP:0012130)3.04246130
32Optic disc pallor (HP:0000543)3.01177985
33Aplasia/Hypoplasia of the sacrum (HP:0008517)2.99779893
34Nuclear cataract (HP:0100018)2.95360484
35Anteriorly placed anus (HP:0001545)2.93307207
36Capillary hemangiomas (HP:0005306)2.91234179
37Macrocytic anemia (HP:0001972)2.90793831
38Split foot (HP:0001839)2.89090761
39J-shaped sella turcica (HP:0002680)2.88083138
40Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.87300943
41Cervical subluxation (HP:0003308)2.77750972
42Coronal craniosynostosis (HP:0004440)2.77209918
43Bowed forearm bones (HP:0003956)2.75671983
44Bowing of the arm (HP:0006488)2.75671983
453-Methylglutaconic aciduria (HP:0003535)2.75257540
46Abnormal number of erythroid precursors (HP:0012131)2.74397872
47Abnormality of polysaccharide metabolism (HP:0011012)2.73992555
48Abnormality of glycosaminoglycan metabolism (HP:0004371)2.73992555
49Abnormality of mucopolysaccharide metabolism (HP:0011020)2.73992555
50White forelock (HP:0002211)2.73261759
51Patchy hypopigmentation of hair (HP:0011365)2.72743174
52Dynein arm defect of respiratory motile cilia (HP:0012255)2.72100854
53Absent/shortened dynein arms (HP:0200106)2.72100854
54Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.70883220
55Increased hepatocellular lipid droplets (HP:0006565)2.70497976
56Urinary glycosaminoglycan excretion (HP:0003541)2.70076083
57Mucopolysacchariduria (HP:0008155)2.70076083
58Thyroid-stimulating hormone excess (HP:0002925)2.69473175
59Squamous cell carcinoma (HP:0002860)2.68613819
60Renal Fanconi syndrome (HP:0001994)2.67480099
61Broad face (HP:0000283)2.65666036
62Hyperacusis (HP:0010780)2.65292843
63Cerebral aneurysm (HP:0004944)2.60424947
64Nonprogressive disorder (HP:0003680)2.58529425
65Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.55924548
66Hypophosphatemic rickets (HP:0004912)2.53732946
67Congenital sensorineural hearing impairment (HP:0008527)2.53301295
68Absent rod-and cone-mediated responses on ERG (HP:0007688)2.51930421
69Abnormal ciliary motility (HP:0012262)2.50619916
70Aplasia/hypoplasia of the uterus (HP:0008684)2.48405959
71Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.47390632
72Pallor (HP:0000980)2.45839102
73Popliteal pterygium (HP:0009756)2.44797964
74Type I transferrin isoform profile (HP:0003642)2.39940396
75Aplasia of the musculature (HP:0100854)2.38043505
76Hypoplasia of the capital femoral epiphysis (HP:0003090)2.37933834
77Upper limb amyotrophy (HP:0009129)2.35000609
78Distal upper limb amyotrophy (HP:0007149)2.35000609
79Thin ribs (HP:0000883)2.34947164
80Delayed epiphyseal ossification (HP:0002663)2.34468399
81Abnormality of the intrinsic pathway (HP:0010989)2.34377484
82Congenital stationary night blindness (HP:0007642)2.34177520
83Bony spicule pigmentary retinopathy (HP:0007737)2.31429080
84Short tibia (HP:0005736)2.31402652
85Sleep apnea (HP:0010535)2.30221552
86Aplasia/Hypoplasia of the tibia (HP:0005772)2.28168465
87Patellar aplasia (HP:0006443)2.28165100
88Congenital ichthyosiform erythroderma (HP:0007431)2.27477110
89Zonular cataract (HP:0010920)2.27180221
90Short chin (HP:0000331)2.26792634
91Protrusio acetabuli (HP:0003179)2.26651559
92Myopathic facies (HP:0002058)2.25543811
93Easy fatigability (HP:0003388)2.24638724
94Abnormality of the costochondral junction (HP:0000919)2.23215057
95Hypothermia (HP:0002045)2.22592550
96Stomatitis (HP:0010280)2.20318106
97Abnormal respiratory motile cilium morphology (HP:0005938)2.19700711
98Abnormal respiratory epithelium morphology (HP:0012253)2.19700711
99Alacrima (HP:0000522)2.19083689
100Abnormal respiratory motile cilium physiology (HP:0012261)2.18058786
101Dyschromatopsia (HP:0007641)2.17846109
102Dysostosis multiplex (HP:0000943)2.16334768
103Sensory axonal neuropathy (HP:0003390)2.15090088
104Hypoplasia of the fovea (HP:0007750)2.12532494
105Aplasia/Hypoplasia of the fovea (HP:0008060)2.12532494
106Aplasia/Hypoplasia of the patella (HP:0006498)2.10519145
107Conical tooth (HP:0000698)2.10112569
108Stridor (HP:0010307)2.09146908
109Hypoplasia of the radius (HP:0002984)2.08651234
110Bile duct proliferation (HP:0001408)2.08412768
111Abnormal biliary tract physiology (HP:0012439)2.08412768
112Supernumerary spleens (HP:0009799)2.07746213
113Abnormal hemoglobin (HP:0011902)2.07242595
114Enlarged epiphyses (HP:0010580)2.06953234
115Long palpebral fissure (HP:0000637)2.06623426
116Lipid accumulation in hepatocytes (HP:0006561)2.05716016
117Lymphangioma (HP:0100764)2.05521485
118Abnormality of renal resorption (HP:0011038)2.04186581
119Premature graying of hair (HP:0002216)2.04118075
120Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.03741559
121Aplasia cutis congenita (HP:0001057)2.03512084
122Decreased central vision (HP:0007663)2.03296510
123Reduced antithrombin III activity (HP:0001976)2.03271214
124Flattened epiphyses (HP:0003071)2.03106166
125Esotropia (HP:0000565)2.03052163
126Biconcave vertebral bodies (HP:0004586)2.02191876
127Facial diplegia (HP:0001349)2.00456298
128Triphalangeal thumb (HP:0001199)1.99576366
129Male pseudohermaphroditism (HP:0000037)1.99034546
130Prolonged partial thromboplastin time (HP:0003645)1.97265689
131Absent epiphyses (HP:0010577)1.96766226
132Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.96766226
133Nasolacrimal duct obstruction (HP:0000579)1.95857735
134Absent speech (HP:0001344)1.95255633
135Rectal prolapse (HP:0002035)1.94831263
136Hypopigmentation of the fundus (HP:0007894)1.93681796
137Chronic obstructive pulmonary disease (HP:0006510)1.93586227
138Obstructive lung disease (HP:0006536)1.93586227
139Widely patent fontanelles and sutures (HP:0004492)1.93576479
140Narrow nasal bridge (HP:0000446)1.92951207
141Hand muscle atrophy (HP:0009130)1.92808090
142Agammaglobulinemia (HP:0004432)1.92681076
143Cerebellar dysplasia (HP:0007033)1.92639810
144Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.90970851
145Gonadal dysgenesis (HP:0000133)1.90618316
146Supernumerary nipples (HP:0002558)1.89624934
147Mitochondrial inheritance (HP:0001427)1.89215578
148Exertional dyspnea (HP:0002875)1.88603256
149Genu recurvatum (HP:0002816)1.87200001
150Peripheral hypomyelination (HP:0007182)1.87068864
151Chin dimple (HP:0010751)1.86614423
152Focal motor seizures (HP:0011153)1.86035298
153Shallow orbits (HP:0000586)1.85052732
154Atelectasis (HP:0100750)1.84711787
155Partial duplication of thumb phalanx (HP:0009944)1.84643033
156Abnormality of magnesium homeostasis (HP:0004921)1.83809133
157Acute necrotizing encephalopathy (HP:0006965)1.83260801
158Self-mutilation (HP:0000742)1.82630440
159Abnormality of dental color (HP:0011073)1.82410999
160Germ cell neoplasia (HP:0100728)1.82376275
161Congenital, generalized hypertrichosis (HP:0004540)1.81951862
162Decreased lacrimation (HP:0000633)1.81897234
163Amelogenesis imperfecta (HP:0000705)1.81244882
164Short humerus (HP:0005792)1.79623874
165Dry hair (HP:0011359)1.79331978
166Renal agenesis (HP:0000104)1.79065083
167Joint hemorrhage (HP:0005261)1.77685193
168Partial duplication of the phalanx of hand (HP:0009999)1.76238183
169Stage 5 chronic kidney disease (HP:0003774)1.76234480
170Abnormality of the pulmonary veins (HP:0011718)1.75933142
171Prolonged neonatal jaundice (HP:0006579)1.75149468
172Abnormality of the thoracic spine (HP:0100711)1.75076297
173Duplication of thumb phalanx (HP:0009942)1.74769725
174Flat occiput (HP:0005469)1.74062935
175Nephronophthisis (HP:0000090)1.73652207
176Mesangial abnormality (HP:0001966)1.73649477
177Anhidrosis (HP:0000970)1.73415292
178Broad-based gait (HP:0002136)1.72958083
179Seborrheic dermatitis (HP:0001051)1.72722905
180Aortic regurgitation (HP:0001659)1.72360649
181Duplicated collecting system (HP:0000081)1.72336094
182Tibial bowing (HP:0002982)1.71773012
183Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.68780371
184Increased number of teeth (HP:0011069)1.68050696
185Lip pit (HP:0100267)1.67707862
186Spina bifida occulta (HP:0003298)1.67370000
187Pterygium (HP:0001059)1.67151089
188Severe visual impairment (HP:0001141)1.66350487
189Congenital hip dislocation (HP:0001374)1.63892536
190Choanal stenosis (HP:0000452)1.62587363
191Asymmetric septal hypertrophy (HP:0001670)1.62489414
192Asymmetry of the thorax (HP:0001555)1.60851234
193Deformed sella turcica (HP:0002681)1.59908749
194Fetal akinesia sequence (HP:0001989)1.59459948
195Abnormality of the fingertips (HP:0001211)1.59271831
196Vertebral compression fractures (HP:0002953)1.57521034

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK8.69057239
2TRIB35.15567940
3MKNK24.02609137
4SIK13.83811438
5TLK13.64983414
6TNIK2.86561869
7ICK2.71664589
8BLK2.69467990
9CLK12.59308835
10SIK22.42164589
11ERN12.36935965
12PKN22.36655674
13RIPK12.30140874
14PHKG12.29429204
15PHKG22.29429204
16MKNK12.29158524
17MUSK2.28653052
18EEF2K2.27275986
19NME22.06170891
20STK162.04799207
21CDK121.98592511
22STK391.81151867
23NLK1.71562363
24SRPK11.69936964
25EPHA21.57350835
26RPS6KA21.57045447
27PRKD31.53317317
28LMTK21.51272965
29GRK61.46629771
30FES1.45387356
31FGFR41.41842568
32IRAK31.40321525
33IRAK41.39369815
34PKN11.38564236
35CDC42BPA1.34481149
36MAP2K61.32545151
37MTOR1.29979099
38PDGFRA1.26497463
39PDPK11.26273580
40TYRO31.24910116
41ZAP701.24867905
42IRAK11.24287861
43MST41.23737364
44MAPK151.22668989
45CDK191.21993472
46PBK1.21251514
47MAP2K31.19993274
48SMG11.15752307
49PTK61.15542572
50IRAK21.14592377
51GRK11.14243136
52YES11.11271953
53PRKD21.07249346
54ADRBK21.06128743
55EIF2AK21.03385258
56OXSR11.01675666
57GRK71.01173903
58FGR0.99426640
59STK380.99004161
60MST1R0.96874124
61DDR20.95977171
62MARK30.95368001
63TESK20.95223312
64MAP3K70.94325022
65UHMK10.93887699
66MAPKAPK30.90835348
67VRK10.89264144
68RPS6KC10.88928679
69RPS6KL10.88928679
70CDK30.88292780
71MAP4K10.85481115
72CSNK1G10.85304877
73DYRK20.83583800
74BMPR1B0.81855891
75DYRK1B0.80274185
76MAPKAPK50.80156043
77BMX0.79859616
78NME10.79826851
79RPS6KA60.79226056
80MAPK120.79158268
81INSRR0.78226293
82MAPK110.75891693
83KDR0.73993281
84MAP3K130.73117930
85TXK0.73093087
86CAMK2B0.72899443
87PTK20.72846820
88TBK10.72283008
89PRKD10.71367536
90NEK20.70275526
91TTN0.69974140
92MAP3K30.69001727
93CAMKK10.68315493
94TNK20.68309374
95BMPR20.67226342
96MAPK130.65586060
97PAK40.64025370
98PDGFRB0.63115781
99DYRK1A0.62539273
100EPHB20.61930286
101TEC0.61461994
102WNK40.60052184
103PAK20.60021706
104CHUK0.59963871
105MAP3K110.59719720
106NEK60.59276114
107RPS6KA50.58249976
108MAP3K10.58094908
109MAPK80.57848157
110PAK10.57530479
111PRKAA20.57524584
112PDK10.55752970
113MAP3K60.54831326
114PIK3CG0.54280840
115IKBKE0.54226686
116DYRK30.53409862
117FER0.52324259
118PRKG10.52016654
119HIPK20.50747462
120SIK30.49712444
121CAMK2A0.49604875
122MAP2K70.49540733
123RET0.49114886
124CSNK1A1L0.49097339
125PRPF4B0.47492506
126CSNK1G30.47226090
127MAP3K140.46895161
128NTRK10.45493225
129MELK0.44995774
130CSK0.44328412
131PRKAA10.44174881
132EPHB10.43790070
133EPHA30.43471928
134CAMK1D0.43208016
135CAMK10.42934156
136ARAF0.42167293
137CDK40.41885467
138ERBB20.40203815
139RPS6KA10.40005610
140PIM20.39938149
141PRKCE0.39925343
142EIF2AK30.39839712
143LYN0.39407239
144CAMK2D0.38089829
145PRKCH0.37887239
146SGK2230.37335531
147SGK4940.37335531
148SGK30.37253590
149TESK10.37039417
150CAMK2G0.37034351
151FGFR30.36657827
152IKBKB0.35524501
153STK110.35211961
154RPS6KB20.35045284
155LCK0.34232093
156ROCK10.33741426
157WNK10.33681307
158MAP2K20.33528075
159PRKG20.31987380
160KIT0.30636709
161ILK0.30222993
162DAPK30.28946919
163BCR0.28056525
164MET0.27981051
165PRKCQ0.27563055
166MAPK40.27162643
167ROCK20.26867204
168TIE10.25652101
169TAOK30.25425959
170RIPK40.25407099
171PRKACA0.25245702
172ADRBK10.25099476
173GRK50.24336978
174GSK3A0.23404783
175MARK20.23116063
176CDK80.22871866

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006044.97191349
2Ribosome_Homo sapiens_hsa030104.91429942
3Glycosaminoglycan degradation_Homo sapiens_hsa005313.28090175
4Protein export_Homo sapiens_hsa030603.11146484
5Phototransduction_Homo sapiens_hsa047442.79619420
6Other types of O-glycan biosynthesis_Homo sapiens_hsa005142.72592530
7Fanconi anemia pathway_Homo sapiens_hsa034602.46186831
8Oxidative phosphorylation_Homo sapiens_hsa001902.36831856
9Fructose and mannose metabolism_Homo sapiens_hsa000512.28886430
10Notch signaling pathway_Homo sapiens_hsa043302.24746958
11Sphingolipid metabolism_Homo sapiens_hsa006002.11301551
12Ether lipid metabolism_Homo sapiens_hsa005651.97991471
13RNA polymerase_Homo sapiens_hsa030201.95315118
14Homologous recombination_Homo sapiens_hsa034401.89518275
15Other glycan degradation_Homo sapiens_hsa005111.78804930
16Arachidonic acid metabolism_Homo sapiens_hsa005901.68536041
17VEGF signaling pathway_Homo sapiens_hsa043701.63283813
18Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.62707590
19Fatty acid elongation_Homo sapiens_hsa000621.62033244
20Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.61305722
21Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.59300252
22* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.52554150
23mTOR signaling pathway_Homo sapiens_hsa041501.52540695
24Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.51565656
25Nicotine addiction_Homo sapiens_hsa050331.51382553
26Parkinsons disease_Homo sapiens_hsa050121.51236727
27Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.50313281
28Long-term depression_Homo sapiens_hsa047301.42513058
29Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.41849693
30Basal transcription factors_Homo sapiens_hsa030221.41126745
31Alzheimers disease_Homo sapiens_hsa050101.40269872
32Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.39738461
33Lysosome_Homo sapiens_hsa041421.36612374
34Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.35255614
35Acute myeloid leukemia_Homo sapiens_hsa052211.30164452
36Lysine degradation_Homo sapiens_hsa003101.29719519
37Huntingtons disease_Homo sapiens_hsa050161.29076199
38Longevity regulating pathway - mammal_Homo sapiens_hsa042111.28971820
39Axon guidance_Homo sapiens_hsa043601.22249479
40Linoleic acid metabolism_Homo sapiens_hsa005911.20848269
41Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.20335125
42ABC transporters_Homo sapiens_hsa020101.17896044
43Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.17883414
44Spliceosome_Homo sapiens_hsa030401.16724458
45Non-small cell lung cancer_Homo sapiens_hsa052231.16026174
46Inositol phosphate metabolism_Homo sapiens_hsa005621.15542152
47Endometrial cancer_Homo sapiens_hsa052131.15040454
48Graft-versus-host disease_Homo sapiens_hsa053321.14168253
49Chronic myeloid leukemia_Homo sapiens_hsa052201.10328784
50Circadian rhythm_Homo sapiens_hsa047101.09899948
51Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.09669232
52Insulin resistance_Homo sapiens_hsa049311.09620007
53Autoimmune thyroid disease_Homo sapiens_hsa053201.09197457
54Cyanoamino acid metabolism_Homo sapiens_hsa004601.08712646
55Bladder cancer_Homo sapiens_hsa052191.08089379
56Thyroid hormone signaling pathway_Homo sapiens_hsa049191.08055608
57Serotonergic synapse_Homo sapiens_hsa047261.07485080
58Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.06858029
59Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.06208507
60Phospholipase D signaling pathway_Homo sapiens_hsa040721.05828526
61Insulin signaling pathway_Homo sapiens_hsa049101.01699272
62Dorso-ventral axis formation_Homo sapiens_hsa043201.01635922
63Steroid biosynthesis_Homo sapiens_hsa001001.01236074
64Phosphatidylinositol signaling system_Homo sapiens_hsa040700.99957422
65Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.97862005
66Neurotrophin signaling pathway_Homo sapiens_hsa047220.97788022
67Choline metabolism in cancer_Homo sapiens_hsa052310.96596990
68Endocytosis_Homo sapiens_hsa041440.95168700
69Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.95102364
70Sulfur relay system_Homo sapiens_hsa041220.94298215
71Non-homologous end-joining_Homo sapiens_hsa034500.94230325
72Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.93277495
73Taste transduction_Homo sapiens_hsa047420.92926034
74Hepatitis C_Homo sapiens_hsa051600.92722705
75alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.92446021
76AMPK signaling pathway_Homo sapiens_hsa041520.91522231
77Basal cell carcinoma_Homo sapiens_hsa052170.90915653
78Asthma_Homo sapiens_hsa053100.86955836
79ErbB signaling pathway_Homo sapiens_hsa040120.86887783
80Histidine metabolism_Homo sapiens_hsa003400.86370751
81Estrogen signaling pathway_Homo sapiens_hsa049150.84285282
82Wnt signaling pathway_Homo sapiens_hsa043100.83851794
83Malaria_Homo sapiens_hsa051440.83127199
84Glioma_Homo sapiens_hsa052140.82401331
85Steroid hormone biosynthesis_Homo sapiens_hsa001400.81842823
86Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.81767813
87Pyrimidine metabolism_Homo sapiens_hsa002400.81565197
88RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.81354052
89Adipocytokine signaling pathway_Homo sapiens_hsa049200.81101661
90Aldosterone synthesis and secretion_Homo sapiens_hsa049250.79771980
91Primary immunodeficiency_Homo sapiens_hsa053400.79322194
92Glycerophospholipid metabolism_Homo sapiens_hsa005640.79056581
93Allograft rejection_Homo sapiens_hsa053300.79036722
94GnRH signaling pathway_Homo sapiens_hsa049120.78796637
95Carbohydrate digestion and absorption_Homo sapiens_hsa049730.78365513
96Glutamatergic synapse_Homo sapiens_hsa047240.77417468
97NF-kappa B signaling pathway_Homo sapiens_hsa040640.76162700
98Hematopoietic cell lineage_Homo sapiens_hsa046400.75762412
99Central carbon metabolism in cancer_Homo sapiens_hsa052300.75157211
100Morphine addiction_Homo sapiens_hsa050320.74422921
101Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.74385728
102Retinol metabolism_Homo sapiens_hsa008300.74326705
103Transcriptional misregulation in cancer_Homo sapiens_hsa052020.72623126
104Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.71543810
105Focal adhesion_Homo sapiens_hsa045100.70355278
106Maturity onset diabetes of the young_Homo sapiens_hsa049500.70305080
107Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.69101340
108TNF signaling pathway_Homo sapiens_hsa046680.68941965
109MAPK signaling pathway_Homo sapiens_hsa040100.68921409
110Purine metabolism_Homo sapiens_hsa002300.68909176
111Bile secretion_Homo sapiens_hsa049760.68473636
112Rheumatoid arthritis_Homo sapiens_hsa053230.68076005
113Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.67680121
114Gap junction_Homo sapiens_hsa045400.67259110
115AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.66265258
116Ras signaling pathway_Homo sapiens_hsa040140.65119769
117ECM-receptor interaction_Homo sapiens_hsa045120.64995564
118Calcium signaling pathway_Homo sapiens_hsa040200.64708934
119Cardiac muscle contraction_Homo sapiens_hsa042600.63978942
120Intestinal immune network for IgA production_Homo sapiens_hsa046720.63122835
121Prolactin signaling pathway_Homo sapiens_hsa049170.62796800
122SNARE interactions in vesicular transport_Homo sapiens_hsa041300.60217003
123Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.59040246
124Systemic lupus erythematosus_Homo sapiens_hsa053220.55033684
125Hippo signaling pathway_Homo sapiens_hsa043900.54478206
126Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.53984386
127B cell receptor signaling pathway_Homo sapiens_hsa046620.53907737
128Apoptosis_Homo sapiens_hsa042100.52788520
129Hepatitis B_Homo sapiens_hsa051610.52317983
130Toll-like receptor signaling pathway_Homo sapiens_hsa046200.52110978
131Glucagon signaling pathway_Homo sapiens_hsa049220.51622205
132Nucleotide excision repair_Homo sapiens_hsa034200.50987471
133Small cell lung cancer_Homo sapiens_hsa052220.48767057
134* Melanogenesis_Homo sapiens_hsa049160.48757346
135Renal cell carcinoma_Homo sapiens_hsa052110.48739008
136FoxO signaling pathway_Homo sapiens_hsa040680.48362581
137Vitamin digestion and absorption_Homo sapiens_hsa049770.47897532
138Cocaine addiction_Homo sapiens_hsa050300.46653644
139Melanoma_Homo sapiens_hsa052180.46456233
140Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.46177605
141Hedgehog signaling pathway_Homo sapiens_hsa043400.45935848
142Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.45633788
143DNA replication_Homo sapiens_hsa030300.45573402
144MicroRNAs in cancer_Homo sapiens_hsa052060.44576176
145Cholinergic synapse_Homo sapiens_hsa047250.44011896
146Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.43793839
147Pancreatic cancer_Homo sapiens_hsa052120.43564755
148Folate biosynthesis_Homo sapiens_hsa007900.43302363
149Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.42842654
150Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.40598678
151Proteoglycans in cancer_Homo sapiens_hsa052050.40365435
152Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.39905062
153Sphingolipid signaling pathway_Homo sapiens_hsa040710.39281831
154N-Glycan biosynthesis_Homo sapiens_hsa005100.39203571
155Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.39091253
156Tyrosine metabolism_Homo sapiens_hsa003500.38078147
157Salivary secretion_Homo sapiens_hsa049700.37947167
158Proteasome_Homo sapiens_hsa030500.37906209
159PI3K-Akt signaling pathway_Homo sapiens_hsa041510.37374557
160Prostate cancer_Homo sapiens_hsa052150.37299081
161Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.36613231
162Measles_Homo sapiens_hsa051620.36126832
163Osteoclast differentiation_Homo sapiens_hsa043800.35771654
164Staphylococcus aureus infection_Homo sapiens_hsa051500.34356727
165Jak-STAT signaling pathway_Homo sapiens_hsa046300.33840084
166Prion diseases_Homo sapiens_hsa050200.33780270
167T cell receptor signaling pathway_Homo sapiens_hsa046600.32914490
168Metabolic pathways_Homo sapiens_hsa011000.32208116
169Phenylalanine metabolism_Homo sapiens_hsa003600.32031366
170Galactose metabolism_Homo sapiens_hsa000520.31918836
171Thyroid cancer_Homo sapiens_hsa052160.31449326
172Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.31336213
173Mineral absorption_Homo sapiens_hsa049780.30767086
174GABAergic synapse_Homo sapiens_hsa047270.30287766
175African trypanosomiasis_Homo sapiens_hsa051430.29932318
176Ovarian steroidogenesis_Homo sapiens_hsa049130.29794366
177Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.28369130
178Mismatch repair_Homo sapiens_hsa034300.24935276
179Vascular smooth muscle contraction_Homo sapiens_hsa042700.24513186
180Alcoholism_Homo sapiens_hsa050340.24208272

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