EDA

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





Description: The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1desmosome organization (GO:0002934)6.25406817
2ribosomal small subunit biogenesis (GO:0042274)6.08150643
3maturation of SSU-rRNA (GO:0030490)5.95489132
4hemidesmosome assembly (GO:0031581)5.63584450
5keratinocyte development (GO:0003334)5.49089755
6establishment of skin barrier (GO:0061436)5.48037451
7viral transcription (GO:0019083)5.28471766
8ribosomal large subunit biogenesis (GO:0042273)5.09014844
9regulation of water loss via skin (GO:0033561)5.08558182
10limb bud formation (GO:0060174)5.07869800
11translational termination (GO:0006415)5.05074181
12lung-associated mesenchyme development (GO:0060484)4.93565135
13G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)4.92535247
14keratinocyte proliferation (GO:0043616)4.46369598
15regulation of cell proliferation involved in kidney development (GO:1901722)4.32377908
16ribosomal small subunit assembly (GO:0000028)4.30031139
17negative regulation of keratinocyte proliferation (GO:0010839)4.25677925
18lateral sprouting from an epithelium (GO:0060601)4.25567233
19intestinal epithelial cell development (GO:0060576)3.99023428
20cell migration involved in gastrulation (GO:0042074)3.97567188
21SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.93966536
22otic vesicle formation (GO:0030916)3.92858626
23cellular protein complex disassembly (GO:0043624)3.86391280
24keratinization (GO:0031424)3.85964492
25sympathetic nervous system development (GO:0048485)3.85907017
26sphingoid metabolic process (GO:0046519)3.85502962
27cotranslational protein targeting to membrane (GO:0006613)3.83262692
28protein targeting to ER (GO:0045047)3.83156779
29translational elongation (GO:0006414)3.78587567
30dorsal/ventral axis specification (GO:0009950)3.75626566
31viral life cycle (GO:0019058)3.75587060
32interferon-gamma secretion (GO:0072643)3.72118274
33establishment of protein localization to endoplasmic reticulum (GO:0072599)3.71025173
34nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.71006422
35cardiac right ventricle morphogenesis (GO:0003215)3.67179346
36regulation of mesoderm development (GO:2000380)3.66103718
37mesonephros development (GO:0001823)3.59703645
38regulation of gene silencing by RNA (GO:0060966)3.59232000
39regulation of posttranscriptional gene silencing (GO:0060147)3.59232000
40regulation of gene silencing by miRNA (GO:0060964)3.59232000
41regulation of keratinocyte proliferation (GO:0010837)3.57545625
42translational initiation (GO:0006413)3.55677593
43multicellular organismal water homeostasis (GO:0050891)3.54622694
44protein localization to endoplasmic reticulum (GO:0070972)3.53828427
45negative regulation of epidermal cell differentiation (GO:0045605)3.53266113
46eyelid development in camera-type eye (GO:0061029)3.48813963
47mesenchymal to epithelial transition (GO:0060231)3.48479176
48signal transduction involved in regulation of gene expression (GO:0023019)3.45626277
49sphingosine metabolic process (GO:0006670)3.45133192
50plasma lipoprotein particle assembly (GO:0034377)3.44970321
51regulation of hexokinase activity (GO:1903299)3.41809645
52regulation of glucokinase activity (GO:0033131)3.41809645
53anterior/posterior axis specification, embryo (GO:0008595)3.39729803
54nephron epithelium morphogenesis (GO:0072088)3.38096071
55nephron tubule morphogenesis (GO:0072078)3.38096071
56ribonucleoprotein complex biogenesis (GO:0022613)3.36714119
57atrioventricular valve morphogenesis (GO:0003181)3.35250133
58molting cycle (GO:0042303)3.33049430
59hair cycle (GO:0042633)3.33049430
60transcription elongation from RNA polymerase III promoter (GO:0006385)3.31677656
61termination of RNA polymerase III transcription (GO:0006386)3.31677656
62regulation of branching involved in prostate gland morphogenesis (GO:0060687)3.26764431
63regulation of phospholipase A2 activity (GO:0032429)3.26190924
64negative regulation of epidermis development (GO:0045683)3.21588643
65protein complex disassembly (GO:0043241)3.18876332
66microtubule depolymerization (GO:0007019)3.16076760
67auditory receptor cell differentiation (GO:0042491)3.15598521
68high-density lipoprotein particle remodeling (GO:0034375)3.14981661
69regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)3.14617393
70reverse cholesterol transport (GO:0043691)3.13493370
71G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071993.09496986
72purinergic nucleotide receptor signaling pathway (GO:0035590)3.09059256
73detection of bacterium (GO:0016045)3.07933974
74diol metabolic process (GO:0034311)3.07382323
75cholesterol efflux (GO:0033344)3.06063597
76regulation of interleukin-8 secretion (GO:2000482)3.05333181
77regulation of non-canonical Wnt signaling pathway (GO:2000050)3.01200819
78glandular epithelial cell differentiation (GO:0002067)3.01026830
79female mating behavior (GO:0060180)3.00734964
80protein-lipid complex assembly (GO:0065005)2.98436932
81regulation of histone H3-K27 methylation (GO:0061085)2.98000588
82amino sugar catabolic process (GO:0046348)2.96080771
83rRNA modification (GO:0000154)2.95774477
84regulation of female receptivity (GO:0045924)2.95623272
85regulation of hippo signaling (GO:0035330)2.95424968
86keratinocyte differentiation (GO:0030216)2.93179713
87cellular ketone body metabolic process (GO:0046950)2.93061141
88regulation of hypersensitivity (GO:0002883)2.92937429
89water homeostasis (GO:0030104)2.91933067
90positive regulation of interleukin-8 secretion (GO:2000484)2.91631702
91epidermis development (GO:0008544)2.91584612
92positive regulation of odontogenesis (GO:0042482)2.91578689
93DNA deamination (GO:0045006)2.91200283
94negative regulation of kidney development (GO:0090185)2.91032139
95macromolecular complex disassembly (GO:0032984)2.89868962
96heart valve morphogenesis (GO:0003179)2.88466855
97planar cell polarity pathway involved in neural tube closure (GO:0090179)2.87877834
98cellular modified amino acid catabolic process (GO:0042219)2.87462503
99detection of other organism (GO:0098543)2.86670784
100somite rostral/caudal axis specification (GO:0032525)2.86271114
101regulation of glucocorticoid metabolic process (GO:0031943)2.86220330
102low-density lipoprotein particle remodeling (GO:0034374)2.84637678
103cyclooxygenase pathway (GO:0019371)2.83475861
104female gonad development (GO:0008585)2.82218294
105cellular response to follicle-stimulating hormone stimulus (GO:0071372)2.81892171
106regulation of keratinocyte differentiation (GO:0045616)2.81872852
107SMAD protein signal transduction (GO:0060395)2.81328870
108glucosamine-containing compound catabolic process (GO:1901072)2.81109135
109intestinal cholesterol absorption (GO:0030299)2.79841143
110positive regulation of male gonad development (GO:2000020)2.77996293
111very-low-density lipoprotein particle assembly (GO:0034379)2.77763288
112embryonic foregut morphogenesis (GO:0048617)2.74651862
113arachidonic acid secretion (GO:0050482)2.74269300
114icosanoid secretion (GO:0032309)2.74269300
115positive regulation of meiotic cell cycle (GO:0051446)2.74149699
116regulation of cardioblast differentiation (GO:0051890)2.70989021
117G-protein coupled purinergic receptor signaling pathway (GO:0035588)2.70823495
118radial glial cell differentiation (GO:0060019)2.69749545
119respiratory chain complex IV assembly (GO:0008535)2.68603096
120mitotic metaphase plate congression (GO:0007080)2.68574574
121embryonic axis specification (GO:0000578)2.67513663
122cartilage morphogenesis (GO:0060536)2.66939029
123regulation of Wnt signaling pathway involved in heart development (GO:0003307)2.66256605
124intermediate filament organization (GO:0045109)2.65482967
125ketone body metabolic process (GO:1902224)2.65015275
126embryonic retina morphogenesis in camera-type eye (GO:0060059)2.64896166
127cellular response to gonadotropin stimulus (GO:0071371)2.64807610
128L-phenylalanine catabolic process (GO:0006559)2.64755769
129erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)2.64755769
130L-ascorbic acid metabolic process (GO:0019852)2.64175840
131ear development (GO:0043583)2.63874396
132protein-lipid complex remodeling (GO:0034368)2.63659319
133macromolecular complex remodeling (GO:0034367)2.63659319
134plasma lipoprotein particle remodeling (GO:0034369)2.63659319
135epidermal cell differentiation (GO:0009913)2.63516944
136plasma lipoprotein particle clearance (GO:0034381)2.62468076
137inner ear receptor cell differentiation (GO:0060113)2.62126070
138rRNA processing (GO:0006364)2.61615036
139negative regulation of transcription by competitive promoter binding (GO:0010944)2.61298830
140prostanoid biosynthetic process (GO:0046457)2.57772473
141prostaglandin biosynthetic process (GO:0001516)2.57772473
142anterior/posterior axis specification (GO:0009948)2.57377472
143regulation of cholesterol esterification (GO:0010872)2.57163907
144rRNA metabolic process (GO:0016072)2.56438715
145response to pheromone (GO:0019236)2.55849829
146regulation of male gonad development (GO:2000018)2.54327558
147triglyceride homeostasis (GO:0070328)2.54247250
148acylglycerol homeostasis (GO:0055090)2.54247250
149negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)2.54072053
150positive regulation of hormone metabolic process (GO:0032352)2.54065728
151bundle of His cell to Purkinje myocyte communication (GO:0086069)2.53382583
152behavioral response to nicotine (GO:0035095)2.53210739
153gland morphogenesis (GO:0022612)2.52254327
154renal tubule morphogenesis (GO:0061333)2.51949256
155response to follicle-stimulating hormone (GO:0032354)2.51850426
156nuclear-transcribed mRNA catabolic process (GO:0000956)2.51798668
157termination of RNA polymerase I transcription (GO:0006363)2.50921391
158glycerophospholipid catabolic process (GO:0046475)2.50918353
159regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.50800069
160nodal signaling pathway (GO:0038092)2.50444774
161triglyceride-rich lipoprotein particle remodeling (GO:0034370)2.50064219
162C4-dicarboxylate transport (GO:0015740)2.48504418
163proline metabolic process (GO:0006560)2.47752227
164negative regulation of retinoic acid receptor signaling pathway (GO:0048387)2.47580401
165short-term memory (GO:0007614)2.46704093
166aspartate family amino acid catabolic process (GO:0009068)2.44282697
167negative regulation of sodium ion transport (GO:0010766)2.39997725
168kidney morphogenesis (GO:0060993)2.39940855
169plasma lipoprotein particle organization (GO:0071827)2.38175737
170protein-chromophore linkage (GO:0018298)2.37427645
171vitamin transmembrane transport (GO:0035461)2.37188971
172primitive streak formation (GO:0090009)2.34121012
173negative regulation of activin receptor signaling pathway (GO:0032926)2.31527706
174phospholipid efflux (GO:0033700)2.30773436
175regulation of bile acid biosynthetic process (GO:0070857)2.29371438
176paraxial mesoderm development (GO:0048339)2.25236877
177embryonic pattern specification (GO:0009880)2.24273442
178L-phenylalanine metabolic process (GO:0006558)2.23428569
179erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)2.23428569
180endoderm formation (GO:0001706)2.23187616
181regulation of retinoic acid receptor signaling pathway (GO:0048385)2.20335295
182cellular response to sterol (GO:0036315)2.20314631
183multicellular organism reproduction (GO:0032504)2.19273313
184protein-lipid complex subunit organization (GO:0071825)2.19266287
185vitamin catabolic process (GO:0009111)2.18985682
186fat-soluble vitamin catabolic process (GO:0042363)2.18985682
187axis specification (GO:0009798)2.18960359
188dopamine transport (GO:0015872)2.18592779
189L-alpha-amino acid transmembrane transport (GO:1902475)2.17675393
190homocysteine metabolic process (GO:0050667)2.17242731
191transcytosis (GO:0045056)2.17217395
192nephron tubule formation (GO:0072079)2.16846784
193aromatic amino acid family catabolic process (GO:0009074)2.15806051
194lysine metabolic process (GO:0006553)2.15414421

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse4.98170686
2CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human4.92335285
3SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.52366683
4ZNF274_21170338_ChIP-Seq_K562_Hela3.32927104
5E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.05967609
6KLF2_18264089_ChIP-ChIP_MESCs_Mouse2.76159524
7KLF5_18264089_ChIP-ChIP_MESCs_Mouse2.76159524
8KLF4_18264089_ChIP-ChIP_MESCs_Mouse2.76159524
9TP63_19390658_ChIP-ChIP_HaCaT_Human2.56411418
10EZH2_22144423_ChIP-Seq_EOC_Human2.53730228
11CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.34976102
12POU5F1_16153702_ChIP-ChIP_HESCs_Human2.33657568
13SOX9_24532713_ChIP-Seq_HFSC_Mouse2.33625582
14ESR1_21235772_ChIP-Seq_MCF-7_Human2.28605303
15P63_26484246_Chip-Seq_KERATINOCYTES_Human2.14530722
16SMAD3_21741376_ChIP-Seq_HESCs_Human2.11659260
17STAT6_21828071_ChIP-Seq_BEAS2B_Human2.05140436
18ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.01974319
19TP63_17297297_ChIP-ChIP_HaCaT_Human13.7341935
20IGF1R_20145208_ChIP-Seq_DFB_Human1.99343112
21ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.96500718
22HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.95509642
23SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.84727167
24MYC_19079543_ChIP-ChIP_MESCs_Mouse1.84015747
25GBX2_23144817_ChIP-Seq_PC3_Human1.82376879
26P300_19829295_ChIP-Seq_ESCs_Human1.79293462
27VDR_22108803_ChIP-Seq_LS180_Human1.78436253
28CTBP2_25329375_ChIP-Seq_LNCAP_Human1.72089758
29GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.71709122
30ESR2_21235772_ChIP-Seq_MCF-7_Human1.71183523
31PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.65508775
32SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.65192180
33SMAD4_21741376_ChIP-Seq_HESCs_Human1.64547333
34TAF15_26573619_Chip-Seq_HEK293_Human1.61645511
35BMI1_23680149_ChIP-Seq_NPCS_Mouse1.57167509
36GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.52479627
37SMAD3_21741376_ChIP-Seq_EPCs_Human1.47772300
38KAP1_22055183_ChIP-Seq_ESCs_Mouse1.47143232
39TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.46895764
40CTBP1_25329375_ChIP-Seq_LNCAP_Human1.46605454
41HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.45812850
42MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.45336723
43TRIM28_21343339_ChIP-Seq_HEK293_Human1.45301931
44SMAD_19615063_ChIP-ChIP_OVARY_Human1.44905283
45FOXA2_19822575_ChIP-Seq_HepG2_Human1.36594149
46SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.35984012
47SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.35984012
48SALL1_21062744_ChIP-ChIP_HESCs_Human1.35715548
49EGR1_23403033_ChIP-Seq_LIVER_Mouse1.34727817
50* SOX2_19829295_ChIP-Seq_ESCs_Human1.34609629
51* NANOG_19829295_ChIP-Seq_ESCs_Human1.34609629
52UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.30219662
53HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.29970013
54SMAD4_21741376_ChIP-Seq_EPCs_Human1.29549297
55POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.28115879
56TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.28115879
57CBX2_27304074_Chip-Seq_ESCs_Mouse1.24107872
58STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.22352766
59TP53_20018659_ChIP-ChIP_R1E_Mouse1.21480427
60GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.21448261
61HNF4A_19822575_ChIP-Seq_HepG2_Human1.21313160
62* TCF4_22108803_ChIP-Seq_LS180_Human1.21013199
63HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.20496478
64BCAT_22108803_ChIP-Seq_LS180_Human1.20465973
65TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.19755049
66TCF3_18692474_ChIP-Seq_MEFs_Mouse1.19586828
67ZFP57_27257070_Chip-Seq_ESCs_Mouse1.19567205
68NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.18759596
69ELK1_22589737_ChIP-Seq_MCF10A_Human1.16950289
70PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.15053837
71KLF5_20875108_ChIP-Seq_MESCs_Mouse1.14323582
72FLI1_27457419_Chip-Seq_LIVER_Mouse1.13661898
73EOMES_21245162_ChIP-Seq_HESCs_Human1.13627963
74CREB1_15753290_ChIP-ChIP_HEK293T_Human1.13570503
75SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.12993590
76RNF2_27304074_Chip-Seq_NSC_Mouse1.12210220
77TOP2B_26459242_ChIP-Seq_MCF-7_Human1.12197002
78TCF4_23295773_ChIP-Seq_U87_Human1.12078971
79IRF1_19129219_ChIP-ChIP_H3396_Human1.11590119
80AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.11192342
81FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.11019177
82CJUN_26792858_Chip-Seq_BT549_Human1.10771595
83HOXB7_26014856_ChIP-Seq_BT474_Human1.10618621
84BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.10254895
85PRDM14_21183938_ChIP-Seq_MESCs_Mouse1.09771073
86GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.08371141
87NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.07014938
88POU3F2_20337985_ChIP-ChIP_501MEL_Human1.06984698
89KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.06038889
90PCGF2_27294783_Chip-Seq_ESCs_Mouse1.04904760
91EED_16625203_ChIP-ChIP_MESCs_Mouse1.04559701
92RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.04456568
93EZH2_27304074_Chip-Seq_ESCs_Mouse1.04126561
94NANOG_16153702_ChIP-ChIP_HESCs_Human1.03643151
95MYC_18940864_ChIP-ChIP_HL60_Human1.03298922
96BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.03161372
97STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.03085651
98GATA6_21074721_ChIP-Seq_CACO-2_Human1.02539947
99LXR_22158963_ChIP-Seq_LIVER_Mouse1.02523172
100TBX3_20139965_ChIP-Seq_ESCs_Mouse1.01158761
101POU5F1_16518401_ChIP-PET_MESCs_Mouse1.01125579
102TBX3_20139965_ChIP-Seq_MESCs_Mouse1.00318380
103EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.00116551
104* RUNX2_22187159_ChIP-Seq_PCA_Human1.00046409
105GATA4_25053715_ChIP-Seq_YYC3_Human0.98833749
106EP300_21415370_ChIP-Seq_HL-1_Mouse0.97439701
107NR3C1_21868756_ChIP-Seq_MCF10A_Human0.97237186
108TP53_18474530_ChIP-ChIP_U2OS_Human0.97053505
109STAT3_23295773_ChIP-Seq_U87_Human0.94938313
110AR_25329375_ChIP-Seq_VCAP_Human0.94801894
111TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.94667216
112ZNF217_24962896_ChIP-Seq_MCF-7_Human0.94525121
113NFE2_27457419_Chip-Seq_LIVER_Mouse0.94307459
114TP53_22573176_ChIP-Seq_HFKS_Human0.93494260
115NOTCH1_21737748_ChIP-Seq_TLL_Human0.93465512
116SOX2_18358816_ChIP-ChIP_MESCs_Mouse0.92358055
117TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92152719
118TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.91739299
119POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.91564963
120SMAD4_21799915_ChIP-Seq_A2780_Human0.91506756
121STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.91452491
122MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.91418535
123SOX2_18555785_ChIP-Seq_MESCs_Mouse0.90540052
124FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.90483239
125MYC_18555785_ChIP-Seq_MESCs_Mouse0.89537253
126PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.89326890
127TCF3_18692474_ChIP-Seq_MESCs_Mouse0.88916907
128ESR1_15608294_ChIP-ChIP_MCF-7_Human0.88809337
129MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.88225805
130AHR_22903824_ChIP-Seq_MCF-7_Human0.87576255
131PHF8_20622853_ChIP-Seq_HELA_Human0.87386479
132SUZ12_27294783_Chip-Seq_NPCs_Mouse0.85926590
133CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.85307035
134CDX2_22108803_ChIP-Seq_LS180_Human0.85142659
135CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.85041878
136RXR_22158963_ChIP-Seq_LIVER_Mouse0.85022539
137FOXH1_21741376_ChIP-Seq_ESCs_Human0.84541924
138KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.84404043
139AR_20517297_ChIP-Seq_VCAP_Human0.83526333
140NANOG_18692474_ChIP-Seq_MEFs_Mouse0.83429393
141TCF4_18268006_ChIP-ChIP_LS174T_Human0.83249595
142NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.81689623
143EST1_17652178_ChIP-ChIP_JURKAT_Human0.81664321
144CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.79661446
145CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.79017670
146AR_21572438_ChIP-Seq_LNCaP_Human0.79014624
147ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.77690288
148RBPJ_21746931_ChIP-Seq_IB4_Human0.76752311
149SOX2_20726797_ChIP-Seq_SW620_Human0.76179015
150RXR_22108803_ChIP-Seq_LS180_Human0.75516110
151TAL1_26923725_Chip-Seq_HPCs_Mouse0.75011581
152FUS_26573619_Chip-Seq_HEK293_Human0.74951668
153SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.73994461
154UBF1/2_26484160_Chip-Seq_HMECs_Human0.73757883
155CHD1_19587682_ChIP-ChIP_MESCs_Mouse0.72053657
156PCGF2_27294783_Chip-Seq_NPCs_Mouse0.71844972
157FOXM1_23109430_ChIP-Seq_U2OS_Human0.71768882
158KLF5_25053715_ChIP-Seq_YYC3_Human0.71701244
159HTT_18923047_ChIP-ChIP_STHdh_Human0.70960605
160ETV1_20927104_ChIP-Seq_GIST48_Human0.70752055
161PIAS1_25552417_ChIP-Seq_VCAP_Human0.70501406
162TTF2_22483619_ChIP-Seq_HELA_Human0.69993959
163EWS_26573619_Chip-Seq_HEK293_Human0.69963388
164FOXO3_23340844_ChIP-Seq_DLD1_Human0.69477847
165RUNX1_27514584_Chip-Seq_MCF-7_Human0.69235402
166KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human0.68787942
167NANOG_18692474_ChIP-Seq_MESCs_Mouse0.68707521
168GATA3_21867929_ChIP-Seq_TH1_Mouse0.67797111
169EZH2_27294783_Chip-Seq_NPCs_Mouse0.67585906

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003941_abnormal_skin_development5.23542042
2* MP0004381_abnormal_hair_follicle4.97109948
3MP0000383_abnormal_hair_follicle4.22893329
4MP0002796_impaired_skin_barrier4.11716330
5MP0003195_calcinosis4.00149124
6MP0005451_abnormal_body_composition3.77762758
7MP0000566_synostosis3.75351574
8MP0003283_abnormal_digestive_organ3.52036024
9MP0010678_abnormal_skin_adnexa3.43267093
10MP0003122_maternal_imprinting3.21591374
11MP0010030_abnormal_orbit_morphology3.11595051
12MP0003890_abnormal_embryonic-extraembry3.10571400
13MP0002060_abnormal_skin_morphology2.97135553
14MP0004133_heterotaxia2.91320741
15MP0002098_abnormal_vibrissa_morphology2.88602423
16MP0001346_abnormal_lacrimal_gland2.85017730
17MP0002277_abnormal_respiratory_mucosa2.67064276
18MP0005275_abnormal_skin_tensile2.60387811
19MP0009379_abnormal_foot_pigmentation2.59118731
20MP0010234_abnormal_vibrissa_follicle2.58311044
21* MP0000647_abnormal_sebaceous_gland2.56538218
22MP0002009_preneoplasia2.38358778
23MP0000579_abnormal_nail_morphology2.24835260
24MP0002254_reproductive_system_inflammat2.22883230
25MP0001216_abnormal_epidermal_layer2.22252547
26MP0003119_abnormal_digestive_system2.19181900
27MP0005501_abnormal_skin_physiology2.18160906
28MP0000762_abnormal_tongue_morphology2.09195665
29MP0003453_abnormal_keratinocyte_physiol2.07598277
30MP0002249_abnormal_larynx_morphology2.05346039
31MP0003718_maternal_effect2.01736871
32MP0002837_dystrophic_cardiac_calcinosis1.93078143
33MP0000377_abnormal_hair_follicle1.90082410
34MP0003123_paternal_imprinting1.90079758
35MP0010771_integument_phenotype1.89000012
36MP0009780_abnormal_chondrocyte_physiolo1.86167623
37MP0006292_abnormal_olfactory_placode1.77279730
38MP0003121_genomic_imprinting1.75028348
39MP0003693_abnormal_embryo_hatching1.60107772
40MP0005365_abnormal_bile_salt1.59596301
41MP0001293_anophthalmia1.58135721
42MP0005257_abnormal_intraocular_pressure1.56834760
43MP0005551_abnormal_eye_electrophysiolog1.55299081
44MP0005084_abnormal_gallbladder_morpholo1.54930565
45MP0005409_darkened_coat_color1.54730461
46MP0003646_muscle_fatigue1.54360766
47MP0003938_abnormal_ear_development1.51423113
48MP0000427_abnormal_hair_cycle1.50405940
49MP0008877_abnormal_DNA_methylation1.48324949
50MP0000467_abnormal_esophagus_morphology1.46105413
51MP0002736_abnormal_nociception_after1.40712658
52MP0000631_abnormal_neuroendocrine_gland1.40106716
53MP0003011_delayed_dark_adaptation1.37640768
54MP0008004_abnormal_stomach_pH1.36306918
55MP0002102_abnormal_ear_morphology1.32906959
56MP0002876_abnormal_thyroid_physiology1.31910596
57MP0002909_abnormal_adrenal_gland1.30527634
58MP0002139_abnormal_hepatobiliary_system1.30220760
59MP0005360_urolithiasis1.28856683
60MP0004264_abnormal_extraembryonic_tissu1.28288130
61* MP0005508_abnormal_skeleton_morphology1.27234031
62MP0008875_abnormal_xenobiotic_pharmacok1.26870227
63MP0001188_hyperpigmentation1.25908594
64MP0010329_abnormal_lipoprotein_level1.25240953
65MP0001286_abnormal_eye_development1.25007044
66MP0002877_abnormal_melanocyte_morpholog1.21576845
67MP0009250_abnormal_appendicular_skeleto1.20650107
68MP0001984_abnormal_olfaction1.17950911
69MP0001968_abnormal_touch/_nociception1.17304966
70* MP0000372_irregular_coat_pigmentation1.16021555
71MP0001485_abnormal_pinna_reflex1.15286562
72MP0008789_abnormal_olfactory_epithelium1.14154106
73* MP0003755_abnormal_palate_morphology1.13378292
74MP0002282_abnormal_trachea_morphology1.13196600
75MP0002138_abnormal_hepatobiliary_system1.12399618
76MP0008995_early_reproductive_senescence1.11397827
77MP0002697_abnormal_eye_size1.11259398
78MP0009384_cardiac_valve_regurgitation1.10564468
79MP0001191_abnormal_skin_condition1.10059293
80MP0001243_abnormal_dermal_layer1.10033393
81MP0005503_abnormal_tendon_morphology1.08976060
82MP0003943_abnormal_hepatobiliary_system1.08333641
83MP0000627_abnormal_mammary_gland1.08128202
84MP0001340_abnormal_eyelid_morphology1.07626661
85MP0009931_abnormal_skin_appearance1.03946767
86* MP0002233_abnormal_nose_morphology1.03449088
87MP0003937_abnormal_limbs/digits/tail_de1.02861940
88MP0005646_abnormal_pituitary_gland1.00280593
89MP0000613_abnormal_salivary_gland0.99350838
90MP0000750_abnormal_muscle_regeneration0.98700633
91MP0002938_white_spotting0.98410604
92MP0004885_abnormal_endolymph0.97575415
93MP0000367_abnormal_coat/_hair0.96615318
94MP0002177_abnormal_outer_ear0.95412812
95MP0000428_abnormal_craniofacial_morphol0.92833541
96MP0005075_abnormal_melanosome_morpholog0.92110481
97MP0005410_abnormal_fertilization0.91609339
98MP0006072_abnormal_retinal_apoptosis0.91483749
99MP0004215_abnormal_myocardial_fiber0.90863700
100MP0000639_abnormal_adrenal_gland0.90236266
101MP0002084_abnormal_developmental_patter0.89537402
102MP0004782_abnormal_surfactant_physiolog0.88880156
103MP0000432_abnormal_head_morphology0.88734915
104MP0003111_abnormal_nucleus_morphology0.88392771
105MP0003315_abnormal_perineum_morphology0.88074406
106MP0005332_abnormal_amino_acid0.86227649
107MP0000049_abnormal_middle_ear0.86079186
108MP0001666_abnormal_nutrient_absorption0.85835808
109MP0003786_premature_aging0.85654712
110MP0001764_abnormal_homeostasis0.85476324
111MP0008057_abnormal_DNA_replication0.85184983
112MP0004947_skin_inflammation0.84526670
113MP0001919_abnormal_reproductive_system0.84141437
114MP0005085_abnormal_gallbladder_physiolo0.84130532
115MP0005636_abnormal_mineral_homeostasis0.84080737
116MP0002638_abnormal_pupillary_reflex0.83494642
117MP0004742_abnormal_vestibular_system0.83014752
118MP0005408_hypopigmentation0.82590474
119MP0002160_abnormal_reproductive_system0.82245244
120MP0003566_abnormal_cell_adhesion0.81984219
121MP0003763_abnormal_thymus_physiology0.81661065
122MP0002928_abnormal_bile_duct0.80980978
123MP0003879_abnormal_hair_cell0.80212473
124MP0004272_abnormal_basement_membrane0.79117133
125MP0001299_abnormal_eye_distance/0.79015287
126MP0005248_abnormal_Harderian_gland0.78368372
127MP0002557_abnormal_social/conspecific_i0.77960924
128MP0003942_abnormal_urinary_system0.77930887
129MP0002653_abnormal_ependyma_morphology0.77248561
130MP0001324_abnormal_eye_pigmentation0.77038949
131MP0001542_abnormal_bone_strength0.76793358
132MP0005395_other_phenotype0.76386590
133MP0005380_embryogenesis_phenotype0.75624279
134MP0001672_abnormal_embryogenesis/_devel0.75624279
135MP0003828_pulmonary_edema0.75439340
136MP0005195_abnormal_posterior_eye0.74473661
137MP0002234_abnormal_pharynx_morphology0.74063628
138MP0005394_taste/olfaction_phenotype0.73990531
139MP0005499_abnormal_olfactory_system0.73990531
140MP0010368_abnormal_lymphatic_system0.73806987
141MP0003385_abnormal_body_wall0.72769681
142* MP0002210_abnormal_sex_determination0.72318298
143MP0003936_abnormal_reproductive_system0.72167010
144MP0003698_abnormal_male_reproductive0.71136172
145MP0003935_abnormal_craniofacial_develop0.69706106
146MP0004957_abnormal_blastocyst_morpholog0.69070350
147MP0002111_abnormal_tail_morphology0.67325318
148MP0005377_hearing/vestibular/ear_phenot0.67303970
149MP0003878_abnormal_ear_physiology0.67303970
150MP0000681_abnormal_thyroid_gland0.67193116
151MP0004085_abnormal_heartbeat0.66431429
152MP0004142_abnormal_muscle_tone0.66288034
153MP0008007_abnormal_cellular_replicative0.65102945
154MP0001661_extended_life_span0.64634110
155MP0003137_abnormal_impulse_conducting0.64542309
156MP0002085_abnormal_embryonic_tissue0.63979417
157* MP0005391_vision/eye_phenotype0.63861411
158MP0001119_abnormal_female_reproductive0.62653960
159MP0004019_abnormal_vitamin_homeostasis0.60202521
160* MP0002116_abnormal_craniofacial_bone0.60032660
161MP0010094_abnormal_chromosome_stability0.59811743
162MP0002932_abnormal_joint_morphology0.59552689
163* MP0003136_yellow_coat_color0.58364629
164MP0005076_abnormal_cell_differentiation0.57720208
165MP0001986_abnormal_taste_sensitivity0.56520060
166MP0003567_abnormal_fetal_cardiomyocyte0.56124635
167MP0000470_abnormal_stomach_morphology0.55124757
168MP0002095_abnormal_skin_pigmentation0.54756212
169* MP0005390_skeleton_phenotype0.54687488
170MP0002108_abnormal_muscle_morphology0.54266795
171* MP0002109_abnormal_limb_morphology0.52648319
172MP0005389_reproductive_system_phenotype0.51367782

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of cells of the erythroid lineage (HP:0012130)4.33654856
2Parakeratosis (HP:0001036)4.10470427
3Lip pit (HP:0100267)4.07400024
4Fragile nails (HP:0001808)3.93513555
5Abnormal number of erythroid precursors (HP:0012131)3.89153414
6Congenital nonbullous ichthyosiform erythroderma (HP:0007479)3.71263896
7Reticulocytopenia (HP:0001896)3.68961394
8Nasolacrimal duct obstruction (HP:0000579)3.68799416
9Abnormality of the lacrimal duct (HP:0011481)3.22064712
10Alopecia of scalp (HP:0002293)3.19933658
11Hepatoblastoma (HP:0002884)3.18394105
12Plantar hyperkeratosis (HP:0007556)3.16167090
13Partial duplication of thumb phalanx (HP:0009944)3.14595292
14Gonadal dysgenesis (HP:0000133)3.08070745
15Congenital, generalized hypertrichosis (HP:0004540)2.98148469
16Congenital ichthyosiform erythroderma (HP:0007431)2.95493482
17Partial duplication of the phalanx of hand (HP:0009999)2.92267851
18Periauricular skin pits (HP:0100277)2.88445420
19Preauricular pit (HP:0004467)2.88445420
20Small epiphyses (HP:0010585)2.88114897
21Prolonged partial thromboplastin time (HP:0003645)2.86303117
22* Conical tooth (HP:0000698)2.83387318
23Abnormality of the nasolacrimal system (HP:0000614)2.81314955
24Macrocytic anemia (HP:0001972)2.81039225
25Bilateral microphthalmos (HP:0007633)2.76368178
26Irregular epiphyses (HP:0010582)2.75852608
27Milia (HP:0001056)2.73957259
28Hypoplasia of the capital femoral epiphysis (HP:0003090)2.73223731
29Stomach cancer (HP:0012126)2.72588290
30Septo-optic dysplasia (HP:0100842)2.70621968
31Hyperglycinuria (HP:0003108)2.70460738
32Duplicated collecting system (HP:0000081)2.70440045
33Onycholysis (HP:0001806)2.69780183
34Chromosomal breakage induced by crosslinking agents (HP:0003221)2.69526416
35Double outlet right ventricle (HP:0001719)2.68195951
36Congenital malformation of the right heart (HP:0011723)2.68195951
37Abnormal hemoglobin (HP:0011902)2.66799011
38Thick nail (HP:0001805)2.65224444
39Aplasia involving bones of the upper limbs (HP:0009823)2.64891983
40Aplasia of the phalanges of the hand (HP:0009802)2.64891983
41Aplasia involving bones of the extremities (HP:0009825)2.64891983
42Ureteral duplication (HP:0000073)2.64809135
43Anophthalmia (HP:0000528)2.64746469
44Aplasia cutis congenita (HP:0001057)2.61694095
45Palmar hyperkeratosis (HP:0010765)2.61579863
46Natal tooth (HP:0000695)2.58433823
47Broad alveolar ridges (HP:0000187)2.57164914
48Palmoplantar hyperkeratosis (HP:0000972)2.55998687
49Prostate neoplasm (HP:0100787)2.55802944
50Submucous cleft hard palate (HP:0000176)2.55291607
51Abnormality of the parietal bone (HP:0002696)2.51399642
52Abnormal ventriculo-arterial connection (HP:0011563)2.51237280
53Transposition of the great arteries (HP:0001669)2.51237280
54Abnormal connection of the cardiac segments (HP:0011545)2.51237280
55Abnormality of the axillary hair (HP:0100134)2.49522525
56Abnormality of secondary sexual hair (HP:0009888)2.49522525
57Abnormality of the pubic bones (HP:0003172)2.47814342
58True hermaphroditism (HP:0010459)2.46154521
59Abnormality of the umbilical cord (HP:0010881)2.46141140
60Stenosis of the external auditory canal (HP:0000402)2.46026625
61Abnormality of the phalanges of the 2nd finger (HP:0009541)2.42774224
62Esophageal atresia (HP:0002032)2.42373901
63Abnormality of the preputium (HP:0100587)2.42237374
64Pallor (HP:0000980)2.40325808
65Ridged nail (HP:0001807)2.40050898
66Distal lower limb muscle weakness (HP:0009053)2.39921170
67Abnormality of the renal collecting system (HP:0004742)2.38921958
68Absent epiphyses (HP:0010577)2.38579556
69Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.38579556
70Synostosis involving the elbow (HP:0003938)2.37767082
71Humeroradial synostosis (HP:0003041)2.37767082
72* Hypotrichosis (HP:0001006)2.37585079
73Adrenal hypoplasia (HP:0000835)2.36196417
74Chromsome breakage (HP:0040012)2.34787293
75Type II lissencephaly (HP:0007260)2.34340934
76Split foot (HP:0001839)2.34170240
77Duplication of thumb phalanx (HP:0009942)2.33121052
78Hyperglycinemia (HP:0002154)2.31708486
79Absent septum pellucidum (HP:0001331)2.31460488
80Sparse scalp hair (HP:0002209)2.30131966
81Diastasis recti (HP:0001540)2.30056247
82Abnormal pancreas size (HP:0012094)2.29012819
83Bifid scrotum (HP:0000048)2.26520085
84Abnormality of glycine metabolism (HP:0010895)2.25970418
85Abnormality of serine family amino acid metabolism (HP:0010894)2.25970418
86Maternal diabetes (HP:0009800)2.25846888
87Abnormality of the middle phalanges of the toes (HP:0010183)2.24401767
88Bifid tongue (HP:0010297)2.21962039
89Microglossia (HP:0000171)2.21355753
90Preaxial foot polydactyly (HP:0001841)2.20647557
91Breast hypoplasia (HP:0003187)2.20103272
92Abnormality of alanine metabolism (HP:0010916)2.17721821
93Hyperalaninemia (HP:0003348)2.17721821
94Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.17721821
95Abnormality of the middle phalanx of the 5th finger (HP:0004219)2.17674515
96Xerostomia (HP:0000217)2.17656983
97Skin pits (HP:0100276)2.16546508
98Premature rupture of membranes (HP:0001788)2.15228471
99Thickened helices (HP:0000391)2.14838561
100Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.14132277
101Congenital stationary night blindness (HP:0007642)2.13918490
102Supernumerary spleens (HP:0009799)2.12862207
103Triphalangeal thumb (HP:0001199)2.12557012
104Renal agenesis (HP:0000104)2.12444926
105Areflexia of lower limbs (HP:0002522)2.11234065
106Optic nerve hypoplasia (HP:0000609)2.10973116
107Abnormality of the septum pellucidum (HP:0007375)2.10746648
108Cerebellar dysplasia (HP:0007033)2.10237644
109Abdominal situs inversus (HP:0003363)2.09729866
110Abnormality of abdominal situs (HP:0011620)2.09729866
111Pancreatic cysts (HP:0001737)2.09248647
112Abnormal tarsal ossification (HP:0008369)2.08685989
113Deep venous thrombosis (HP:0002625)2.08481470
114Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.08407896
115Nail dystrophy (HP:0008404)2.05517818
116Increased IgE level (HP:0003212)2.05358837
117Atrophic scars (HP:0001075)2.05258203
118Upper limb muscle weakness (HP:0003484)2.04897293
119Occipital encephalocele (HP:0002085)2.04886804
120* Hypohidrosis (HP:0000966)2.04248540
121Abnormal umbilical cord blood vessels (HP:0011403)2.03790970
122Single umbilical artery (HP:0001195)2.03790970
123Abnormality of the fetal cardiovascular system (HP:0010948)2.03790970
124Aplasia involving forearm bones (HP:0009822)1.99250120
125Absent forearm bone (HP:0003953)1.99250120
126Abnormality of the salivary glands (HP:0010286)1.99013945
127Intestinal atresia (HP:0011100)1.98227030
128Abnormality of the vitreous humor (HP:0004327)1.98120142
129Sex reversal (HP:0012245)1.96091469
130Abnormal sex determination (HP:0012244)1.96091469
131Abnormality of the nasal septum (HP:0000419)1.96004674
132Abnormality of the ileum (HP:0001549)1.94681773
133Hypomagnesemia (HP:0002917)1.94513745
134Abnormality of the phalanges of the 5th finger (HP:0004213)1.94101181
135Epiphyseal dysplasia (HP:0002656)1.93953375
136Bile duct proliferation (HP:0001408)1.93930906
137Abnormal biliary tract physiology (HP:0012439)1.93930906
138Abnormality of the distal phalanges of the toes (HP:0010182)1.92394585
139Acanthosis nigricans (HP:0000956)1.89686614
140Meckel diverticulum (HP:0002245)1.89296218
141Vaginal fistula (HP:0004320)1.89035354
142Choanal stenosis (HP:0000452)1.88900184
143Short nail (HP:0001799)1.88249491
144Overfolded helix (HP:0000396)1.88245624
145Gastrointestinal atresia (HP:0002589)1.87953186
146Pancreatic fibrosis (HP:0100732)1.87891660
147Enlarged kidneys (HP:0000105)1.86832457
148Abnormality of the labia minora (HP:0012880)1.86541712
149Corneal erosion (HP:0200020)1.85765474
150Molar tooth sign on MRI (HP:0002419)1.85659279
151Abnormality of midbrain morphology (HP:0002418)1.85659279
152Popliteal pterygium (HP:0009756)1.85377397
153Absent thumb (HP:0009777)1.85307059
154Broad hallux (HP:0010055)1.84090741
155Anterior segment dysgenesis (HP:0007700)1.82998825
156Hypoplastic labia majora (HP:0000059)1.82708279
157Azoospermia (HP:0000027)1.82616466
158Absent radius (HP:0003974)1.82470786
159Abnormalities of placenta or umbilical cord (HP:0001194)1.81515684
160Hypoplasia of the radius (HP:0002984)1.81456306
161Advanced eruption of teeth (HP:0006288)1.81444349
162Epidermoid cyst (HP:0200040)1.81171179
163Intrahepatic cholestasis (HP:0001406)1.81013291
164Aplasia/hypoplasia of the uterus (HP:0008684)1.80367733
165* Sparse eyelashes (HP:0000653)1.79812216
166Aplasia/Hypoplasia of the earlobes (HP:0009906)1.79270708
167Oligodactyly (hands) (HP:0001180)1.79208801
168Retinal atrophy (HP:0001105)1.78319475
169Abnormality of incisor morphology (HP:0011063)1.78003462
170Tubular atrophy (HP:0000092)1.73784589
171Renal hypoplasia (HP:0000089)1.72501729
172Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.72472175
173Cutaneous finger syndactyly (HP:0010554)1.72282167
174Scrotal hypoplasia (HP:0000046)1.72220986
175Xanthomatosis (HP:0000991)1.71692410
176Delayed CNS myelination (HP:0002188)1.71535801
177Mixed hearing impairment (HP:0000410)1.70802575
178Horseshoe kidney (HP:0000085)1.69164791
179Cutaneous syndactyly (HP:0012725)1.68810927
180Distal arthrogryposis (HP:0005684)1.63987051
181Rectal fistula (HP:0100590)1.62629227
182Rectovaginal fistula (HP:0000143)1.62629227
183Hypoglycemic coma (HP:0001325)1.61430202
184Breast aplasia (HP:0100783)1.61252580
185Abnormality of the parathyroid morphology (HP:0011766)1.61092175
186Abnormality of the aortic arch (HP:0012303)1.60242812
187Anal stenosis (HP:0002025)1.59814000
188Male pseudohermaphroditism (HP:0000037)1.59370989
189Cupped ear (HP:0000378)1.59313098
190Late onset (HP:0003584)1.56249767
191Abnormality of magnesium homeostasis (HP:0004921)1.56201404

Predicted kinase interactions (KEA)

RankGene SetZ-score
1WNK43.55129759
2LATS13.20081238
3MST1R2.99094213
4ZAK2.44612057
5PASK2.40784401
6AKT32.30808381
7BUB12.24553970
8WEE12.14663940
9STK392.09194607
10EIF2AK22.07624548
11FGFR22.07096325
12DYRK32.04108335
13EPHA32.03236940
14WNK32.02458291
15SRPK12.01590886
16MUSK1.95201426
17PBK1.92250482
18EPHB21.89764061
19STK38L1.86160852
20TRIM281.81107779
21MAPKAPK51.78941820
22TYRO31.78257643
23MST41.77237870
24STK241.72872829
25BMPR1B1.71797760
26LATS21.70409903
27CASK1.68852561
28EEF2K1.67417967
29MKNK11.67238154
30PRPF4B1.67037884
31CDK121.66890525
32NME21.65076216
33EPHA41.62208065
34MAPKAPK31.60227223
35DYRK21.57519978
36STK31.54993817
37NEK61.52869836
38ERBB31.50220890
39TTK1.49807869
40EPHA21.44873710
41BRSK21.43949666
42CDK31.43792409
43MAP3K31.41543779
44ERBB41.38927305
45MAP3K91.38524808
46NEK91.33236625
47PDK21.31933182
48FGFR11.31238069
49FGFR41.30787511
50PLK41.28962398
51BMPR21.26639807
52NLK1.26333151
53MAP4K21.25174690
54PNCK1.22346220
55NEK21.20784382
56MKNK21.19189302
57NEK11.17320867
58TRPM71.12042649
59PAK31.11424608
60NUAK11.11141463
61CAMK1D1.09909032
62VRK21.09455062
63TSSK61.09184205
64IKBKB1.05392131
65GRK11.05337244
66NTRK21.05092077
67FER1.04321762
68PRKAA21.03820235
69BCR1.03088193
70CDK191.02806480
71AURKB1.00387054
72PIM20.98162031
73CDK70.98143363
74CAMK1G0.98140134
75PINK10.97058434
76RPS6KB20.96239430
77NME10.96072725
78PIK3CA0.95736529
79MAP3K100.95643893
80MAP3K120.94594670
81MAP2K20.90049097
82AURKA0.89234888
83PLK30.88422702
84PRKD30.86474679
85MET0.86318338
86RPS6KA50.84783337
87YES10.84636618
88CDK80.83601456
89MAP3K70.83064453
90PLK10.82216132
91IRAK10.81634118
92MAP3K140.81329047
93OXSR10.80845856
94VRK10.79172156
95CSNK1E0.78927894
96DAPK20.77714711
97CLK10.76844429
98ERBB20.75867609
99RPS6KA40.75284282
100TLK10.72973591
101PHKG10.72349910
102PHKG20.72349910
103PDK40.72340546
104PDK30.72340546
105TIE10.71469143
106PRKCG0.70557122
107CHEK20.66243179
108FRK0.65732790
109CSNK1G10.65620848
110BRSK10.65546655
111MAP3K40.65160582
112CDK40.64780251
113CSNK1D0.64639389
114WNK10.64459177
115AKT20.63307645
116BRD40.62707806
117TNIK0.61934599
118RPS6KB10.61219714
119MAPK130.61046277
120PRKAA10.57592613
121PRKCI0.56589372
122PRKCZ0.55907658
123MAPK150.55434644
124INSRR0.55259346
125CDK60.54888235
126ICK0.51066742
127ACVR1B0.50941325
128HIPK20.50683269
129BRAF0.48869995
130DYRK1B0.48831138
131CSNK1A10.47318047
132MAPK70.47170623
133ATM0.47158333
134ABL20.47103814
135DDR20.46727981
136EIF2AK30.45146255
137TAOK20.44858179
138PRKACB0.44287374
139DYRK1A0.44171425
140TGFBR10.43512549
141PRKACA0.43364897
142ADRBK20.43001041
143CSNK2A20.42515797
144PLK20.42501314
145GRK70.42276712
146ABL10.40711898
147NTRK30.40120933
148CDK90.38546139
149PRKCE0.37405270
150OBSCN0.37344720
151MAPK40.37248810
152IRAK30.36527486
153STK160.36104035
154CSNK2A10.33459286
155IRAK40.30210018
156FGFR30.29238931
157CHEK10.27326722

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030105.27431589
2Vitamin B6 metabolism_Homo sapiens_hsa007503.51529124
3RNA polymerase_Homo sapiens_hsa030203.46703711
4Cyanoamino acid metabolism_Homo sapiens_hsa004602.93188532
5Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.84455690
6Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.56585810
7Butanoate metabolism_Homo sapiens_hsa006502.43662655
8Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.41911879
9Fanconi anemia pathway_Homo sapiens_hsa034602.39981481
10Basal cell carcinoma_Homo sapiens_hsa052172.26772170
11Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.19516721
12Arachidonic acid metabolism_Homo sapiens_hsa005902.16629368
13Linoleic acid metabolism_Homo sapiens_hsa005912.12255284
14p53 signaling pathway_Homo sapiens_hsa041152.06082263
15Propanoate metabolism_Homo sapiens_hsa006402.02219057
16Maturity onset diabetes of the young_Homo sapiens_hsa049501.99371850
17alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.93108405
18Hedgehog signaling pathway_Homo sapiens_hsa043401.87940310
19Tryptophan metabolism_Homo sapiens_hsa003801.87874631
20Homologous recombination_Homo sapiens_hsa034401.85727178
21Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.83212160
22Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.79189158
23Arginine and proline metabolism_Homo sapiens_hsa003301.71397736
24Fatty acid degradation_Homo sapiens_hsa000711.66140770
25Fat digestion and absorption_Homo sapiens_hsa049751.65798327
26Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.65621537
27Fatty acid metabolism_Homo sapiens_hsa012121.62225092
28Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.60585768
29Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.60273507
30Ether lipid metabolism_Homo sapiens_hsa005651.56921344
31Spliceosome_Homo sapiens_hsa030401.46937031
32Pyrimidine metabolism_Homo sapiens_hsa002401.45786589
33Pentose and glucuronate interconversions_Homo sapiens_hsa000401.43990372
34Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.43160667
35Complement and coagulation cascades_Homo sapiens_hsa046101.42913440
36Primary bile acid biosynthesis_Homo sapiens_hsa001201.42227748
37Caffeine metabolism_Homo sapiens_hsa002321.41915522
38Sphingolipid metabolism_Homo sapiens_hsa006001.41554220
39Basal transcription factors_Homo sapiens_hsa030221.41204684
40Cysteine and methionine metabolism_Homo sapiens_hsa002701.39874268
41Cell cycle_Homo sapiens_hsa041101.34862295
42Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.32944287
43Selenocompound metabolism_Homo sapiens_hsa004501.31708116
44Nitrogen metabolism_Homo sapiens_hsa009101.30607752
45Lysine degradation_Homo sapiens_hsa003101.28779807
46RNA transport_Homo sapiens_hsa030131.27728482
47Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.26150911
48Hippo signaling pathway_Homo sapiens_hsa043901.24893253
49Retinol metabolism_Homo sapiens_hsa008301.23949659
50Pyruvate metabolism_Homo sapiens_hsa006201.22974225
51Vitamin digestion and absorption_Homo sapiens_hsa049771.20838308
52Nucleotide excision repair_Homo sapiens_hsa034201.19437313
532-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.18288273
54Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.15691378
55Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.14104068
56Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.13890849
57Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.11898967
58Oxidative phosphorylation_Homo sapiens_hsa001901.11870071
59Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.05952391
60Peroxisome_Homo sapiens_hsa041461.04370669
61Arginine biosynthesis_Homo sapiens_hsa002201.04162229
62Circadian rhythm_Homo sapiens_hsa047101.04144276
63One carbon pool by folate_Homo sapiens_hsa006701.00667508
64ABC transporters_Homo sapiens_hsa020101.00341877
65Glycerophospholipid metabolism_Homo sapiens_hsa005640.98546205
66ECM-receptor interaction_Homo sapiens_hsa045120.98102581
67Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.97277389
68* Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.96891363
69Base excision repair_Homo sapiens_hsa034100.96568389
70Regulation of autophagy_Homo sapiens_hsa041400.94507818
71Small cell lung cancer_Homo sapiens_hsa052220.94232917
72Proteasome_Homo sapiens_hsa030500.94221595
73Phototransduction_Homo sapiens_hsa047440.93058580
74Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.92870413
75Chemical carcinogenesis_Homo sapiens_hsa052040.92212307
76Sulfur metabolism_Homo sapiens_hsa009200.89874494
77Folate biosynthesis_Homo sapiens_hsa007900.89538291
78Purine metabolism_Homo sapiens_hsa002300.89166537
79PPAR signaling pathway_Homo sapiens_hsa033200.88891980
80Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.87922083
81Cardiac muscle contraction_Homo sapiens_hsa042600.86743740
82Autoimmune thyroid disease_Homo sapiens_hsa053200.86634791
83Parkinsons disease_Homo sapiens_hsa050120.84348771
84Ovarian steroidogenesis_Homo sapiens_hsa049130.83593563
85Tyrosine metabolism_Homo sapiens_hsa003500.83586927
86Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.82903314
87Protein digestion and absorption_Homo sapiens_hsa049740.82889792
88Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.79903480
89MicroRNAs in cancer_Homo sapiens_hsa052060.79791983
90Metabolic pathways_Homo sapiens_hsa011000.78982716
91Notch signaling pathway_Homo sapiens_hsa043300.77009338
92TGF-beta signaling pathway_Homo sapiens_hsa043500.75951379
93Steroid biosynthesis_Homo sapiens_hsa001000.74460755
94Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.74220735
95Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.74033918
96Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.73655418
97Wnt signaling pathway_Homo sapiens_hsa043100.71772331
98Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.71238563
99DNA replication_Homo sapiens_hsa030300.69162862
100Graft-versus-host disease_Homo sapiens_hsa053320.68078283
101Huntingtons disease_Homo sapiens_hsa050160.68076213
102Pathways in cancer_Homo sapiens_hsa052000.68050592
103Olfactory transduction_Homo sapiens_hsa047400.68002058
104Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.66983557
105Protein export_Homo sapiens_hsa030600.65867374
106Fatty acid elongation_Homo sapiens_hsa000620.64887479
107Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.64521370
108Intestinal immune network for IgA production_Homo sapiens_hsa046720.64199711
109Mismatch repair_Homo sapiens_hsa034300.63971846
110RNA degradation_Homo sapiens_hsa030180.63400579
111HTLV-I infection_Homo sapiens_hsa051660.62213227
112Glutathione metabolism_Homo sapiens_hsa004800.62164174
113Steroid hormone biosynthesis_Homo sapiens_hsa001400.61475912
114Transcriptional misregulation in cancer_Homo sapiens_hsa052020.61164089
115Starch and sucrose metabolism_Homo sapiens_hsa005000.60902853
116Jak-STAT signaling pathway_Homo sapiens_hsa046300.59162412
117Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.58607252
118Mineral absorption_Homo sapiens_hsa049780.57376751
119Glycerolipid metabolism_Homo sapiens_hsa005610.54251047
120Bile secretion_Homo sapiens_hsa049760.53808935
121Nicotine addiction_Homo sapiens_hsa050330.53699237
122Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.53695507
123Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.52986451
124Non-homologous end-joining_Homo sapiens_hsa034500.51953171
125NF-kappa B signaling pathway_Homo sapiens_hsa040640.49545990
126Phenylalanine metabolism_Homo sapiens_hsa003600.49138146
127Prostate cancer_Homo sapiens_hsa052150.48806486
128Axon guidance_Homo sapiens_hsa043600.48216168
129beta-Alanine metabolism_Homo sapiens_hsa004100.44454643
130Sulfur relay system_Homo sapiens_hsa041220.44020442
131Hematopoietic cell lineage_Homo sapiens_hsa046400.43889523
132Epstein-Barr virus infection_Homo sapiens_hsa051690.43163775
133Ras signaling pathway_Homo sapiens_hsa040140.42783666
134Pancreatic secretion_Homo sapiens_hsa049720.42705783
135NOD-like receptor signaling pathway_Homo sapiens_hsa046210.42163769
136Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.41762379
137Adherens junction_Homo sapiens_hsa045200.41198091
138Herpes simplex infection_Homo sapiens_hsa051680.40999495
139Tight junction_Homo sapiens_hsa045300.40321410
140Melanoma_Homo sapiens_hsa052180.40156513
141Histidine metabolism_Homo sapiens_hsa003400.39885716
142Bladder cancer_Homo sapiens_hsa052190.39629264
143Malaria_Homo sapiens_hsa051440.39387937
144Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.39117876
145Melanogenesis_Homo sapiens_hsa049160.35209074
146Fatty acid biosynthesis_Homo sapiens_hsa000610.31932590
147Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.31339580
148SNARE interactions in vesicular transport_Homo sapiens_hsa041300.31217252
149Allograft rejection_Homo sapiens_hsa053300.30406570
150TNF signaling pathway_Homo sapiens_hsa046680.26564495
151PI3K-Akt signaling pathway_Homo sapiens_hsa041510.25840039
152Asthma_Homo sapiens_hsa053100.24528605
153mRNA surveillance pathway_Homo sapiens_hsa030150.23566001

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