RHBDL2

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 member of the rhomboid family of integral membrane proteins. This family contains proteins that are related to Drosophila rhomboid protein. Members of this family are found in both prokaryotes and eukaryotes and are thought to function as intramembrane serine proteases. The encoded protein is thought to release soluble growth factors by proteolytic cleavage of certain membrane-bound substrates, including ephrin B2 and ephrin B3. Two transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1negative regulation of keratinocyte proliferation (GO:0010839)5.55958623
2behavioral response to nicotine (GO:0035095)5.09266146
3keratinocyte development (GO:0003334)4.53979366
4purine ribonucleoside bisphosphate metabolic process (GO:0034035)4.32307408
53-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)4.32307408
6L-fucose catabolic process (GO:0042355)4.27524451
7fucose catabolic process (GO:0019317)4.27524451
8L-fucose metabolic process (GO:0042354)4.27524451
9nucleotide transmembrane transport (GO:1901679)4.16525187
10epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.07367020
11sulfate transmembrane transport (GO:1902358)3.94517278
12sulfate transport (GO:0008272)3.85449059
13superoxide anion generation (GO:0042554)3.78712250
14DNA deamination (GO:0045006)3.64646524
15protein polyglutamylation (GO:0018095)3.64299462
16negative regulation of T cell differentiation in thymus (GO:0033085)3.56791025
17platelet dense granule organization (GO:0060155)3.52959281
18epithelial cilium movement (GO:0003351)3.46279270
19regulation of cilium movement (GO:0003352)3.43245662
20cellular ketone body metabolic process (GO:0046950)3.42755635
21nucleotide-sugar biosynthetic process (GO:0009226)3.40875684
22protein complex biogenesis (GO:0070271)3.40708628
23cyclooxygenase pathway (GO:0019371)3.39330566
24signal peptide processing (GO:0006465)3.37522601
25establishment of skin barrier (GO:0061436)3.35696661
26response to pheromone (GO:0019236)3.34637509
27axoneme assembly (GO:0035082)3.34358668
28GDP-mannose metabolic process (GO:0019673)3.27097793
29pyrimidine-containing compound transmembrane transport (GO:0072531)3.25374106
30natural killer cell activation involved in immune response (GO:0002323)3.23981297
31ceramide catabolic process (GO:0046514)3.23114436
32sphingoid metabolic process (GO:0046519)3.22410619
33detection of bacterium (GO:0016045)3.22375585
34regulation of dendritic cell antigen processing and presentation (GO:0002604)3.21809623
35regulation of keratinocyte proliferation (GO:0010837)3.21554994
36cornea development in camera-type eye (GO:0061303)3.18268388
37regulation of RIG-I signaling pathway (GO:0039535)3.14392424
38regulation of water loss via skin (GO:0033561)3.13344900
39mitochondrial respiratory chain complex assembly (GO:0033108)3.12053125
40detection of other organism (GO:0098543)3.10815422
41ketone body metabolic process (GO:1902224)3.10399096
42preassembly of GPI anchor in ER membrane (GO:0016254)3.09385787
43mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.08941932
44mitochondrial respiratory chain complex I assembly (GO:0032981)3.08941932
45NADH dehydrogenase complex assembly (GO:0010257)3.08941932
46somite development (GO:0061053)3.08909771
47positive regulation of epidermal cell differentiation (GO:0045606)3.08652023
48dendritic cell chemotaxis (GO:0002407)3.08456002
49nonmotile primary cilium assembly (GO:0035058)3.08186495
50mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.06294169
51indole-containing compound catabolic process (GO:0042436)3.06048842
52indolalkylamine catabolic process (GO:0046218)3.06048842
53tryptophan catabolic process (GO:0006569)3.06048842
54dolichol-linked oligosaccharide biosynthetic process (GO:0006488)3.05209032
55kynurenine metabolic process (GO:0070189)3.02812123
56piRNA metabolic process (GO:0034587)3.00925862
57cilium movement (GO:0003341)3.00832603
58glycosphingolipid catabolic process (GO:0046479)2.99270984
59oligosaccharide catabolic process (GO:0009313)2.98721865
60detection of light stimulus involved in sensory perception (GO:0050962)2.98652273
61detection of light stimulus involved in visual perception (GO:0050908)2.98652273
62negative regulation of chemokine production (GO:0032682)2.97863215
63protein localization to cilium (GO:0061512)2.97144625
64negative regulation of mast cell activation (GO:0033004)2.96758895
65indolalkylamine metabolic process (GO:0006586)2.95201266
66neuronal action potential (GO:0019228)2.95036149
67sphingolipid catabolic process (GO:0030149)2.94846107
68negative regulation of telomere maintenance (GO:0032205)2.94524696
69water-soluble vitamin biosynthetic process (GO:0042364)2.94229792
70chondrocyte proliferation (GO:0035988)2.92827424
71protein-cofactor linkage (GO:0018065)2.92152450
72regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039531)2.87925843
73regulation of interleukin-8 secretion (GO:2000482)2.85114917
74cilium morphogenesis (GO:0060271)2.85039062
75energy homeostasis (GO:0097009)2.85003776
76detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.84438252
77primary amino compound metabolic process (GO:1901160)2.84264188
78multicellular organism reproduction (GO:0032504)2.82738220
79poly(A)+ mRNA export from nucleus (GO:0016973)2.79426258
80tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.78777277
81RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.78777277
82cellular response to exogenous dsRNA (GO:0071360)2.78074031
83cellular response to ATP (GO:0071318)2.77851855
84glycerophospholipid catabolic process (GO:0046475)2.77755576
85positive regulation of fatty acid transport (GO:2000193)2.77371960
86negative regulation of systemic arterial blood pressure (GO:0003085)2.74528035
87establishment of protein localization to mitochondrial membrane (GO:0090151)2.73754073
88G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)2.73734641
89nucleotide transport (GO:0006862)2.73434196
90purine ribonucleotide transport (GO:0015868)2.72577548
91eosinophil migration (GO:0072677)2.71688463
92axonemal dynein complex assembly (GO:0070286)2.71686826
93intestinal epithelial cell development (GO:0060576)2.71253522
94mesenchymal cell differentiation involved in renal system development (GO:2001012)2.71160441
95mesenchymal cell differentiation involved in kidney development (GO:0072161)2.71160441
96ganglion development (GO:0061548)2.71084640
97lipoxygenase pathway (GO:0019372)2.70913964
98adenine nucleotide transport (GO:0051503)2.70645144
99glycolipid catabolic process (GO:0019377)2.70119961
100dendritic cell migration (GO:0036336)2.70054499
101diol metabolic process (GO:0034311)2.69057294
102response to hepatocyte growth factor (GO:0035728)2.67833785
103cellular response to hepatocyte growth factor stimulus (GO:0035729)2.67833785
104positive regulation of prostaglandin secretion (GO:0032308)2.67669996
105nephron tubule morphogenesis (GO:0072078)2.67543857
106nephron epithelium morphogenesis (GO:0072088)2.67543857
107serotonin metabolic process (GO:0042428)2.67127724
108eosinophil chemotaxis (GO:0048245)2.66523216
109indole-containing compound metabolic process (GO:0042430)2.66392081
110tryptophan metabolic process (GO:0006568)2.65736216
111respiratory chain complex IV assembly (GO:0008535)2.63823248
112regulation of microtubule-based movement (GO:0060632)2.63354127
113energy coupled proton transport, down electrochemical gradient (GO:0015985)2.62771521
114ATP synthesis coupled proton transport (GO:0015986)2.62771521
115phosphatidylinositol acyl-chain remodeling (GO:0036149)2.62495940
116bundle of His cell to Purkinje myocyte communication (GO:0086069)2.62395082
117regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)2.62208777
118regulation of vitamin metabolic process (GO:0030656)2.61603659
119cilium organization (GO:0044782)2.61068212
120replicative senescence (GO:0090399)2.60909144
121GPI anchor metabolic process (GO:0006505)2.60587675
122mannosylation (GO:0097502)2.60424357
123reflex (GO:0060004)2.59188343
124mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.56637080
125glandular epithelial cell differentiation (GO:0002067)2.56587243
126membrane lipid catabolic process (GO:0046466)2.55923957
127spinal cord motor neuron differentiation (GO:0021522)2.55910187
128nucleoside diphosphate catabolic process (GO:0009134)2.55334344
129cilium assembly (GO:0042384)2.55073648
130smooth muscle tissue development (GO:0048745)2.54406655
131adaptation of signaling pathway (GO:0023058)2.54239570
132gamma-aminobutyric acid transport (GO:0015812)2.54174957
133regulation of action potential (GO:0098900)2.53633925
134behavioral response to ethanol (GO:0048149)2.53500726
135sphingosine metabolic process (GO:0006670)2.52854382
136interleukin-1-mediated signaling pathway (GO:0070498)2.50826508
137limb bud formation (GO:0060174)2.50479171
138photoreceptor cell maintenance (GO:0045494)2.49850629
139nucleotide-sugar metabolic process (GO:0009225)2.49761389
140desmosome organization (GO:0002934)2.49339930
141kidney morphogenesis (GO:0060993)2.47723240
142retinal cone cell development (GO:0046549)2.47437899
143intraciliary transport (GO:0042073)2.46704032
144positive regulation of defense response to virus by host (GO:0002230)2.46157973
145regulation of timing of cell differentiation (GO:0048505)2.46153496
146phosphatidylserine acyl-chain remodeling (GO:0036150)2.46094637
147centriole assembly (GO:0098534)2.45549804
148dopamine transport (GO:0015872)2.45540651
149cilium or flagellum-dependent cell motility (GO:0001539)2.45523027
150regulation of memory T cell differentiation (GO:0043380)2.44887359
151regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033139)2.44809018
152positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)2.44809018
153sulfation (GO:0051923)2.44800345
154renal absorption (GO:0070293)2.44325488
155amine catabolic process (GO:0009310)2.43612974
156cellular biogenic amine catabolic process (GO:0042402)2.43612974
157cell proliferation in forebrain (GO:0021846)2.43537675
158regulation of cell proliferation involved in kidney development (GO:1901722)2.43202448
159positive regulation of epidermis development (GO:0045684)2.42565419
160sperm motility (GO:0030317)2.42384666
161regulation of hexokinase activity (GO:1903299)2.41753716
162regulation of glucokinase activity (GO:0033131)2.41753716
163positive regulation of antigen processing and presentation (GO:0002579)2.39742499
164positive regulation of icosanoid secretion (GO:0032305)2.38435567
165nucleobase catabolic process (GO:0046113)2.38230586
166pharyngeal system development (GO:0060037)2.37915843
167regulation of male gonad development (GO:2000018)2.37512858
168regulation of antigen processing and presentation (GO:0002577)2.37386612
169synaptic transmission, cholinergic (GO:0007271)2.37003085
170rhodopsin mediated signaling pathway (GO:0016056)2.36946810
171cell differentiation involved in metanephros development (GO:0072202)2.36897939
172L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.36638590
173cytochrome complex assembly (GO:0017004)2.35383327
174positive regulation of interleukin-8 secretion (GO:2000484)2.35183124
175regulation of type B pancreatic cell apoptotic process (GO:2000674)2.34982135
176positive regulation of cellular amide metabolic process (GO:0034250)2.34911838
177phosphatidylethanolamine acyl-chain remodeling (GO:0036152)2.34868338
178photoreceptor cell development (GO:0042461)2.34121538
179multicellular organismal water homeostasis (GO:0050891)2.33923988
180sphingomyelin metabolic process (GO:0006684)2.33244456
181positive regulation of interleukin-1 beta secretion (GO:0050718)2.33232069
182action potential (GO:0001508)2.32950456
183dentate gyrus development (GO:0021542)2.32175305
184GPI anchor biosynthetic process (GO:0006506)2.32062424
185fucosylation (GO:0036065)2.31895418
186cellular response to gamma radiation (GO:0071480)2.31451170
187positive regulation of keratinocyte differentiation (GO:0045618)2.31173788
188regulation of activation of Janus kinase activity (GO:0010533)2.30651215
189protein neddylation (GO:0045116)2.30636977
190positive regulation of interleukin-1 secretion (GO:0050716)2.30172367
191adenosine metabolic process (GO:0046085)2.30089574
192fucose metabolic process (GO:0006004)2.29194063

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human4.48680825
2ZNF274_21170338_ChIP-Seq_K562_Hela4.46818634
3GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse3.02650816
4TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.90080560
5PCGF2_27294783_Chip-Seq_ESCs_Mouse2.87861895
6VDR_22108803_ChIP-Seq_LS180_Human2.79026709
7FLI1_27457419_Chip-Seq_LIVER_Mouse2.73464997
8SMAD_19615063_ChIP-ChIP_OVARY_Human2.69365540
9SUZ12_27294783_Chip-Seq_NPCs_Mouse2.37173647
10NFE2_27457419_Chip-Seq_LIVER_Mouse2.29689745
11GBX2_23144817_ChIP-Seq_PC3_Human2.28734154
12CTBP2_25329375_ChIP-Seq_LNCAP_Human2.19000423
13GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.17924941
14PCGF2_27294783_Chip-Seq_NPCs_Mouse2.13432793
15ZFP57_27257070_Chip-Seq_ESCs_Mouse2.09959225
16BMI1_23680149_ChIP-Seq_NPCS_Mouse2.09794686
17EZH2_22144423_ChIP-Seq_EOC_Human2.07527027
18HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.06454510
19STAT3_18555785_Chip-Seq_ESCs_Mouse2.04205137
20CTBP1_25329375_ChIP-Seq_LNCAP_Human2.03228532
21TRIM28_21343339_ChIP-Seq_HEK293_Human2.01561601
22ELF1_17652178_ChIP-ChIP_JURKAT_Human1.94453106
23EZH2_27294783_Chip-Seq_NPCs_Mouse1.93415077
24NANOG_18555785_Chip-Seq_ESCs_Mouse1.89950707
25EWS_26573619_Chip-Seq_HEK293_Human1.88683743
26NMYC_18555785_Chip-Seq_ESCs_Mouse1.87575814
27EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.87180377
28SUZ12_18555785_Chip-Seq_ESCs_Mouse1.86769318
29FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.85100754
30P53_22387025_ChIP-Seq_ESCs_Mouse1.84411839
31CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.84055957
32POU3F2_20337985_ChIP-ChIP_501MEL_Human1.80681715
33E2F1_18555785_Chip-Seq_ESCs_Mouse1.77320252
34NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.74703999
35* STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.74119393
36TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.72434143
37SOX2_18555785_Chip-Seq_ESCs_Mouse1.69808394
38GABP_17652178_ChIP-ChIP_JURKAT_Human1.67909636
39ZFX_18555785_Chip-Seq_ESCs_Mouse1.66550341
40KLF4_18555785_Chip-Seq_ESCs_Mouse1.66203818
41TAF15_26573619_Chip-Seq_HEK293_Human1.64221396
42OCT4_18555785_Chip-Seq_ESCs_Mouse1.61977777
43RUNX1_27457419_Chip-Seq_LIVER_Mouse1.61600527
44P300_18555785_Chip-Seq_ESCs_Mouse1.61222590
45CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.60734454
46EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.60707967
47AR_25329375_ChIP-Seq_VCAP_Human1.60138640
48SALL1_21062744_ChIP-ChIP_HESCs_Human1.59606787
49CMYC_18555785_Chip-Seq_ESCs_Mouse1.59335359
50PU1_27457419_Chip-Seq_LIVER_Mouse1.56117463
51ESRRB_18555785_Chip-Seq_ESCs_Mouse1.55817021
52FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.53699258
53TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.52703079
54SMAD1_18555785_Chip-Seq_ESCs_Mouse1.51641220
55IRF1_19129219_ChIP-ChIP_H3396_Human1.46267461
56* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.45101162
57PIAS1_25552417_ChIP-Seq_VCAP_Human1.45001043
58* FOXA1_27270436_Chip-Seq_PROSTATE_Human1.42978326
59* FOXA1_25329375_ChIP-Seq_VCAP_Human1.42978326
60PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.42776601
61* SOX2_20726797_ChIP-Seq_SW620_Human1.42614943
62MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.41821379
63KAP1_22055183_ChIP-Seq_ESCs_Mouse1.41456348
64TP53_22573176_ChIP-Seq_HFKS_Human1.40906464
65CRX_20693478_ChIP-Seq_RETINA_Mouse1.40137706
66CTCF_18555785_Chip-Seq_ESCs_Mouse1.40027114
67SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.39520351
68* SOX2_19829295_ChIP-Seq_ESCs_Human1.38269497
69* NANOG_19829295_ChIP-Seq_ESCs_Human1.38269497
70BCAT_22108803_ChIP-Seq_LS180_Human1.37951660
71STAT3_23295773_ChIP-Seq_U87_Human1.37664087
72RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.36597887
73AR_20517297_ChIP-Seq_VCAP_Human1.35922622
74MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.35721245
75GATA3_21878914_ChIP-Seq_MCF-7_Human1.34780797
76ESR1_21235772_ChIP-Seq_MCF-7_Human1.33885095
77HOXB7_26014856_ChIP-Seq_BT474_Human1.33723254
78SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.33287790
79SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.33268955
80TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.32302315
81TOP2B_26459242_ChIP-Seq_MCF-7_Human1.31018956
82CDX2_19796622_ChIP-Seq_MESCs_Mouse1.30746458
83EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.29919397
84TCF4_23295773_ChIP-Seq_U87_Human1.29775627
85KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.29003397
86SMAD4_21741376_ChIP-Seq_EPCs_Human1.26973814
87CBX2_27304074_Chip-Seq_ESCs_Mouse1.26845002
88REST_21632747_ChIP-Seq_MESCs_Mouse1.26461720
89TP53_18474530_ChIP-ChIP_U2OS_Human1.25753061
90OCT4_21477851_ChIP-Seq_ESCs_Mouse1.25274607
91IGF1R_20145208_ChIP-Seq_DFB_Human1.24851422
92IRF8_22096565_ChIP-ChIP_GC-B_Human1.24584200
93* FOXA1_21572438_ChIP-Seq_LNCaP_Human1.24117572
94CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.23792503
95SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.23143036
96TCF4_22108803_ChIP-Seq_LS180_Human1.22544769
97GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.21968884
98IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.21918887
99CBP_20019798_ChIP-Seq_JUKART_Human1.21918887
100P300_19829295_ChIP-Seq_ESCs_Human1.21844091
101EED_16625203_ChIP-ChIP_MESCs_Mouse1.21798359
102SMAD3_21741376_ChIP-Seq_EPCs_Human1.21570993
103ZNF217_24962896_ChIP-Seq_MCF-7_Human1.21323351
104MYC_18940864_ChIP-ChIP_HL60_Human1.19732696
105SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.18066376
106AR_21572438_ChIP-Seq_LNCaP_Human1.17967637
107MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.17854643
108NCOR_22424771_ChIP-Seq_293T_Human1.17398881
109TAL1_26923725_Chip-Seq_HPCs_Mouse1.17048714
110E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.16805017
111RUNX2_22187159_ChIP-Seq_PCA_Human1.13010860
112EGR1_23403033_ChIP-Seq_LIVER_Mouse1.12269125
113KLF5_20875108_ChIP-Seq_MESCs_Mouse1.11866543
114CDX2_20551321_ChIP-Seq_CACO-2_Human1.11332403
115PRDM14_20953172_ChIP-Seq_ESCs_Human1.11045872
116ETV2_25802403_ChIP-Seq_MESCs_Mouse1.11025389
117SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.09731986
118BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.09712495
119SRF_21415370_ChIP-Seq_HL-1_Mouse1.08397620
120RNF2_27304074_Chip-Seq_NSC_Mouse1.07914441
121TP63_19390658_ChIP-ChIP_HaCaT_Human1.06559637
122SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.06427089
123ER_23166858_ChIP-Seq_MCF-7_Human1.04611062
124CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.04473621
125CJUN_26792858_Chip-Seq_BT549_Human1.04252790
126TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04152750
127POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.04152750
128POU5F1_16153702_ChIP-ChIP_HESCs_Human1.03940528
129* TAF2_19829295_ChIP-Seq_ESCs_Human1.03652553
130MYC_19829295_ChIP-Seq_ESCs_Human1.03634475
131EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.02977854
132ERA_21632823_ChIP-Seq_H3396_Human1.02268319
133JARID2_20064375_ChIP-Seq_MESCs_Mouse1.02028540
134CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.01918944
135VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.00993162
136HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.00949816
137EST1_17652178_ChIP-ChIP_JURKAT_Human1.00156118
138CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.99956001
139LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse0.99947566
140EZH2_27304074_Chip-Seq_ESCs_Mouse0.99605763
141AHR_22903824_ChIP-Seq_MCF-7_Human0.99170388
142STAT1_17558387_ChIP-Seq_HELA_Human0.97513826
143NOTCH1_21737748_ChIP-Seq_TLL_Human0.97073934
144FOXH1_21741376_ChIP-Seq_EPCs_Human0.96989680
145NR3C1_21868756_ChIP-Seq_MCF10A_Human0.96349922
146AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.96018613
147EZH2_27294783_Chip-Seq_ESCs_Mouse0.95705468
148TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.95513625
149SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.95040719
150SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.95040719
151SMAD4_21799915_ChIP-Seq_A2780_Human0.95022999
152* CDX2_22108803_ChIP-Seq_LS180_Human0.94818409
153SUZ12_27294783_Chip-Seq_ESCs_Mouse0.94679384
154* NANOG_20526341_ChIP-Seq_ESCs_Human0.94568856
155IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.94419552
156PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.93965671
157GATA4_25053715_ChIP-Seq_YYC3_Human0.93757739
158* RBPJ_21746931_ChIP-Seq_IB4_Human0.93687950
159SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.89698833
160FUS_26573619_Chip-Seq_HEK293_Human0.89650360
161IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.89582164
162TCF4_18268006_ChIP-ChIP_LS174T_Human0.88363099
163NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.88115965
164NRF2_20460467_ChIP-Seq_MEFs_Mouse0.88115965

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003283_abnormal_digestive_organ3.99457978
2MP0000566_synostosis3.55172557
3MP0002876_abnormal_thyroid_physiology3.44326890
4MP0005645_abnormal_hypothalamus_physiol3.27809718
5MP0005551_abnormal_eye_electrophysiolog2.86558555
6MP0004885_abnormal_endolymph2.77935173
7MP0002877_abnormal_melanocyte_morpholog2.76808437
8MP0008875_abnormal_xenobiotic_pharmacok2.68877099
9MP0005377_hearing/vestibular/ear_phenot2.64039078
10MP0003878_abnormal_ear_physiology2.64039078
11MP0010386_abnormal_urinary_bladder2.63066125
12MP0001346_abnormal_lacrimal_gland2.52448858
13MP0001188_hyperpigmentation2.42282868
14MP0002254_reproductive_system_inflammat2.38500961
15MP0004782_abnormal_surfactant_physiolog2.31865422
16MP0004147_increased_porphyrin_level2.31650110
17MP0003941_abnormal_skin_development2.27552350
18MP0006072_abnormal_retinal_apoptosis2.21747286
19MP0001968_abnormal_touch/_nociception2.17712781
20MP0000678_abnormal_parathyroid_gland2.15189857
21MP0002653_abnormal_ependyma_morphology2.13958365
22MP0008877_abnormal_DNA_methylation2.13789308
23MP0002163_abnormal_gland_morphology2.02202264
24MP0003136_yellow_coat_color1.97522820
25MP0003880_abnormal_central_pattern1.96627438
26MP0002102_abnormal_ear_morphology1.96288961
27MP0006292_abnormal_olfactory_placode1.96103267
28MP0008872_abnormal_physiological_respon1.93847464
29MP0004142_abnormal_muscle_tone1.92458026
30MP0002736_abnormal_nociception_after1.89606979
31MP0002938_white_spotting1.88604682
32MP0009745_abnormal_behavioral_response1.88077207
33MP0005646_abnormal_pituitary_gland1.85365815
34MP0002272_abnormal_nervous_system1.80248530
35MP0000516_abnormal_urinary_system1.78034855
36MP0005367_renal/urinary_system_phenotyp1.78034855
37MP0003195_calcinosis1.74964615
38MP0005253_abnormal_eye_physiology1.74157117
39MP0004742_abnormal_vestibular_system1.68984159
40MP0001542_abnormal_bone_strength1.68799546
41MP0002098_abnormal_vibrissa_morphology1.68537218
42MP0002837_dystrophic_cardiac_calcinosis1.68107165
43MP0005310_abnormal_salivary_gland1.66931748
44MP0001485_abnormal_pinna_reflex1.65496060
45MP0000427_abnormal_hair_cycle1.65245412
46MP0003183_abnormal_peptide_metabolism1.64346967
47MP0004133_heterotaxia1.62615956
48MP0005379_endocrine/exocrine_gland_phen1.62096448
49MP0009046_muscle_twitch1.61950313
50MP0001986_abnormal_taste_sensitivity1.60462450
51MP0000762_abnormal_tongue_morphology1.60062876
52MP0002277_abnormal_respiratory_mucosa1.59289547
53MP0008260_abnormal_autophagy1.56671130
54MP0005171_absent_coat_pigmentation1.55727711
55MP0000613_abnormal_salivary_gland1.53126208
56MP0002822_catalepsy1.52745541
57MP0001905_abnormal_dopamine_level1.51490604
58MP0001529_abnormal_vocalization1.49445110
59MP0001835_abnormal_antigen_presentation1.48485429
60MP0000462_abnormal_digestive_system1.46583804
61MP0002009_preneoplasia1.46431902
62MP0000383_abnormal_hair_follicle1.46312072
63MP0000372_irregular_coat_pigmentation1.44840659
64MP0003693_abnormal_embryo_hatching1.43265052
65MP0000163_abnormal_cartilage_morphology1.42741806
66MP0002557_abnormal_social/conspecific_i1.41546349
67MP0003879_abnormal_hair_cell1.41486140
68MP0003787_abnormal_imprinting1.40151147
69MP0003011_delayed_dark_adaptation1.38924035
70MP0000631_abnormal_neuroendocrine_gland1.38698097
71MP0005508_abnormal_skeleton_morphology1.38145979
72MP0000049_abnormal_middle_ear1.36875490
73MP0001873_stomach_inflammation1.36210830
74MP0000569_abnormal_digit_pigmentation1.36118140
75MP0001970_abnormal_pain_threshold1.34885782
76MP0009780_abnormal_chondrocyte_physiolo1.33926266
77MP0004381_abnormal_hair_follicle1.32444560
78MP0001502_abnormal_circadian_rhythm1.32086171
79MP0001984_abnormal_olfaction1.31414838
80MP0001764_abnormal_homeostasis1.31182664
81MP0002148_abnormal_hypersensitivity_rea1.30598523
82MP0002928_abnormal_bile_duct1.27742957
83MP0008789_abnormal_olfactory_epithelium1.27417299
84MP0001501_abnormal_sleep_pattern1.25370582
85MP0004134_abnormal_chest_morphology1.21901316
86MP0002572_abnormal_emotion/affect_behav1.21037790
87MP0005195_abnormal_posterior_eye1.21011526
88MP0002733_abnormal_thermal_nociception1.20997862
89MP0005503_abnormal_tendon_morphology1.20314366
90MP0001486_abnormal_startle_reflex1.20214877
91MP0002933_joint_inflammation1.19086506
92MP0004264_abnormal_extraembryonic_tissu1.18876394
93MP0002132_abnormal_respiratory_system1.18158107
94MP0005390_skeleton_phenotype1.17790356
95MP0006276_abnormal_autonomic_nervous1.17776290
96MP0002638_abnormal_pupillary_reflex1.16432638
97MP0009250_abnormal_appendicular_skeleto1.15972874
98MP0000015_abnormal_ear_pigmentation1.14492409
99MP0005386_behavior/neurological_phenoty1.14100394
100MP0004924_abnormal_behavior1.14100394
101MP0002067_abnormal_sensory_capabilities1.12798884
102MP0005410_abnormal_fertilization1.10849136
103MP0009785_altered_susceptibility_to1.07372052
104MP0000538_abnormal_urinary_bladder1.06011574
105MP0002060_abnormal_skin_morphology1.04906804
106MP0002064_seizures1.04707358
107MP0005423_abnormal_somatic_nervous1.03939060
108MP0008004_abnormal_stomach_pH1.03921973
109MP0002138_abnormal_hepatobiliary_system1.03254389
110MP0000026_abnormal_inner_ear1.02651800
111MP0000647_abnormal_sebaceous_gland1.02591961
112MP0002115_abnormal_skeleton_extremities1.02334869
113MP0000681_abnormal_thyroid_gland1.02107599
114MP0002160_abnormal_reproductive_system1.00289931
115MP0000470_abnormal_stomach_morphology0.99898597
116MP0002234_abnormal_pharynx_morphology0.99880998
117MP0002734_abnormal_mechanical_nocicepti0.99705898
118MP0003646_muscle_fatigue0.99232421
119MP0003795_abnormal_bone_structure0.97453615
120MP0001963_abnormal_hearing_physiology0.96767256
121MP0008995_early_reproductive_senescence0.96720426
122MP0003315_abnormal_perineum_morphology0.96645767
123MP0002095_abnormal_skin_pigmentation0.96073480
124MP0002751_abnormal_autonomic_nervous0.95243616
125MP0009697_abnormal_copulation0.94559164
126MP0010678_abnormal_skin_adnexa0.94022385
127MP0009384_cardiac_valve_regurgitation0.93506916
128MP0004043_abnormal_pH_regulation0.92338113
129MP0002752_abnormal_somatic_nervous0.91923325
130MP0001324_abnormal_eye_pigmentation0.91337597
131MP0004019_abnormal_vitamin_homeostasis0.90969990
132MP0003937_abnormal_limbs/digits/tail_de0.90949523
133MP0000230_abnormal_systemic_arterial0.90565050
134MP0005387_immune_system_phenotype0.90086157
135MP0001790_abnormal_immune_system0.90086157
136MP0005389_reproductive_system_phenotype0.89992810
137MP0005636_abnormal_mineral_homeostasis0.89945831
138MP0002693_abnormal_pancreas_physiology0.89530856
139MP0003635_abnormal_synaptic_transmissio0.89487131
140MP0005332_abnormal_amino_acid0.89130029
141MP0002896_abnormal_bone_mineralization0.88222773
142MP0002113_abnormal_skeleton_development0.87915356
143MP0003718_maternal_effect0.87914052
144MP0002282_abnormal_trachea_morphology0.86521649
145MP0002229_neurodegeneration0.86506747
146MP0005167_abnormal_blood-brain_barrier0.85965349
147MP0000778_abnormal_nervous_system0.85282603
148MP0004145_abnormal_muscle_electrophysio0.84476658
149MP0003866_abnormal_defecation0.83925114
150MP0000490_abnormal_crypts_of0.83434774
151MP0003633_abnormal_nervous_system0.82943029
152MP0002109_abnormal_limb_morphology0.82833604
153MP0002233_abnormal_nose_morphology0.82362413
154MP0001664_abnormal_digestion0.82178901
155MP0005381_digestive/alimentary_phenotyp0.81325946
156MP0001765_abnormal_ion_homeostasis0.80914309
157MP0005451_abnormal_body_composition0.80904656
158MP0005084_abnormal_gallbladder_morpholo0.80694327
159MP0005394_taste/olfaction_phenotype0.80448056
160MP0005499_abnormal_olfactory_system0.80448056
161MP0002063_abnormal_learning/memory/cond0.79851675
162MP0000685_abnormal_immune_system0.79672575
163MP0001216_abnormal_epidermal_layer0.79461341
164MP0002177_abnormal_outer_ear0.79318211
165MP0001756_abnormal_urination0.78720993
166MP0001919_abnormal_reproductive_system0.78666644
167MP0006082_CNS_inflammation0.78107602
168MP0003724_increased_susceptibility_to0.78075079
169MP0002735_abnormal_chemical_nociception0.77710670
170MP0003755_abnormal_palate_morphology0.77529996

Predicted human phenotypes

RankGene SetZ-score
1Irregular epiphyses (HP:0010582)5.33820529
2Flat capital femoral epiphysis (HP:0003370)4.82181271
3Cupped ribs (HP:0000887)3.95231380
4Abnormality of midbrain morphology (HP:0002418)3.84683384
5Molar tooth sign on MRI (HP:0002419)3.84683384
6Epiphyseal dysplasia (HP:0002656)3.79415917
7Congenital stationary night blindness (HP:0007642)3.66430889
8Fibular aplasia (HP:0002990)3.64772942
9Neonatal short-limb short stature (HP:0008921)3.48222570
10Abnormal tarsal ossification (HP:0008369)3.37987456
11Medial flaring of the eyebrow (HP:0010747)3.35728703
12Flat acetabular roof (HP:0003180)3.34738218
13Nephronophthisis (HP:0000090)3.33866718
14Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)3.32891942
15Genu varum (HP:0002970)3.21368775
16Abnormality of femoral epiphyses (HP:0006499)3.17182103
17Abnormality involving the epiphyses of the lower limbs (HP:0006500)3.17182103
18Abnormality of the epiphysis of the femoral head (HP:0010574)3.12240226
19Abnormality of the femoral head (HP:0003368)3.11771950
20Flattened epiphyses (HP:0003071)3.09444950
21Type II lissencephaly (HP:0007260)3.00639020
22Gait imbalance (HP:0002141)2.93973293
23Metaphyseal irregularity (HP:0003025)2.90310952
24Abnormality of the renal medulla (HP:0100957)2.89232679
25Vitreoretinal degeneration (HP:0000655)2.89214119
26Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.88054738
27Symphalangism affecting the phalanges of the hand (HP:0009773)2.83843655
28Congenital primary aphakia (HP:0007707)2.79664529
29Abnormality of carpal bone ossification (HP:0006257)2.76643474
30Abnormality of the pons (HP:0007361)2.71630323
31Type I transferrin isoform profile (HP:0003642)2.71618560
32Lip pit (HP:0100267)2.70968423
33Abnormality of the renal cortex (HP:0011035)2.69431215
34Abnormality of incisor morphology (HP:0011063)2.68565261
35Aplasia/hypoplasia of the uterus (HP:0008684)2.67994785
36Short middle phalanx of finger (HP:0005819)2.67071766
37Delayed epiphyseal ossification (HP:0002663)2.66920633
38Abnormal respiratory motile cilium morphology (HP:0005938)2.66116803
39Abnormal respiratory epithelium morphology (HP:0012253)2.66116803
40Hypoplasia of the pons (HP:0012110)2.65882699
41Increased hepatocellular lipid droplets (HP:0006565)2.64321950
42Lipid accumulation in hepatocytes (HP:0006561)2.57780462
43Short femoral neck (HP:0100864)2.57593844
44Nephrogenic diabetes insipidus (HP:0009806)2.56440933
45Absent/shortened dynein arms (HP:0200106)2.54892919
46Dynein arm defect of respiratory motile cilia (HP:0012255)2.54892919
47Abnormal foot bone ossification (HP:0010675)2.54772980
48Mitochondrial inheritance (HP:0001427)2.49352453
49Hypoplastic ischia (HP:0003175)2.46894343
50Acute necrotizing encephalopathy (HP:0006965)2.46264603
51Chromosomal breakage induced by crosslinking agents (HP:0003221)2.45839122
52Tubular atrophy (HP:0000092)2.45091824
53True hermaphroditism (HP:0010459)2.44507833
54Cystic liver disease (HP:0006706)2.43211639
55Large for gestational age (HP:0001520)2.41470614
56Aplasia/hypoplasia of the femur (HP:0005613)2.41420013
57Pendular nystagmus (HP:0012043)2.41388911
58Hypoplasia of the fovea (HP:0007750)2.41084792
59Aplasia/Hypoplasia of the fovea (HP:0008060)2.41084792
60Stomach cancer (HP:0012126)2.40434744
61Abnormality of the proximal phalanges of the hand (HP:0009834)2.37266485
62Amelogenesis imperfecta (HP:0000705)2.37065708
63Abnormal drinking behavior (HP:0030082)2.36051620
64Polydipsia (HP:0001959)2.36051620
65Increased CSF lactate (HP:0002490)2.35428032
66Congenital, generalized hypertrichosis (HP:0004540)2.34111498
67Small epiphyses (HP:0010585)2.33341858
68Aplasia/Hypoplasia of the tongue (HP:0010295)2.32987381
69Oligodactyly (hands) (HP:0001180)2.32899601
70Chromsome breakage (HP:0040012)2.31328142
71Abnormal ciliary motility (HP:0012262)2.30860519
72Hyperventilation (HP:0002883)2.30437905
73Patellar aplasia (HP:0006443)2.28454340
74Decreased circulating renin level (HP:0003351)2.28255014
75Aplasia/Hypoplasia of the patella (HP:0006498)2.27742225
76Abolished electroretinogram (ERG) (HP:0000550)2.27729937
77Cerebellar dysplasia (HP:0007033)2.27039067
78Enlarged epiphyses (HP:0010580)2.25666554
79Abnormality of the pubic bones (HP:0003172)2.25167425
80Onycholysis (HP:0001806)2.25007934
81Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.24969259
82Attenuation of retinal blood vessels (HP:0007843)2.24968904
83Keratoconus (HP:0000563)2.24373270
84Increased corneal curvature (HP:0100692)2.24373270
85Furrowed tongue (HP:0000221)2.22606341
86Osteomalacia (HP:0002749)2.22101031
87Stillbirth (HP:0003826)2.20318655
88Hypothermia (HP:0002045)2.20283537
89Chronic hepatic failure (HP:0100626)2.18894480
90Progressive macrocephaly (HP:0004481)2.18549217
91Abnormal rod and cone electroretinograms (HP:0008323)2.17690767
92Spinal cord compression (HP:0002176)2.16825123
93Abnormality of the distal phalanx of the thumb (HP:0009617)2.15867430
94Renal Fanconi syndrome (HP:0001994)2.15311551
95Decreased electroretinogram (ERG) amplitude (HP:0000654)2.14326396
96Hypoplastic ilia (HP:0000946)2.14279820
97Abnormality of the ischium (HP:0003174)2.12935942
98Aplasia/Hypoplasia of the tibia (HP:0005772)2.12059248
99Abnormal respiratory motile cilium physiology (HP:0012261)2.11686084
100Acute encephalopathy (HP:0006846)2.10905110
101Abnormal mitochondria in muscle tissue (HP:0008316)2.10609723
102Abnormal protein glycosylation (HP:0012346)2.09994601
103Abnormal glycosylation (HP:0012345)2.09994601
104Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.09994601
105Abnormal protein N-linked glycosylation (HP:0012347)2.09994601
106Genital tract atresia (HP:0001827)2.09980948
107Sclerocornea (HP:0000647)2.09642957
108Symptomatic seizures (HP:0011145)2.09594915
109Abnormal vertebral ossification (HP:0100569)2.09549705
110Anencephaly (HP:0002323)2.09479025
111Prostate neoplasm (HP:0100787)2.07442399
112Abnormality of the vertebral endplates (HP:0005106)2.06836076
113Alveolar cell carcinoma (HP:0006519)2.06745202
114Pancreatic fibrosis (HP:0100732)2.06704449
115Concave nail (HP:0001598)2.06640601
116Barrel-shaped chest (HP:0001552)2.05591985
117Vaginal atresia (HP:0000148)2.04869567
118Flared iliac wings (HP:0002869)2.04328305
119Chorioretinal atrophy (HP:0000533)2.04267256
120Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.03401087
121Abnormality of alanine metabolism (HP:0010916)2.03401087
122Hyperalaninemia (HP:0003348)2.03401087
123Abnormal hand bone ossification (HP:0010660)2.03063570
124Hypoplastic pelvis (HP:0008839)2.02174891
125Renal cortical cysts (HP:0000803)2.01383729
126Reduced antithrombin III activity (HP:0001976)2.01357045
127Synostosis involving the elbow (HP:0003938)2.00728287
128Humeroradial synostosis (HP:0003041)2.00728287
129Breech presentation (HP:0001623)1.98779229
130Congenital sensorineural hearing impairment (HP:0008527)1.98231215
131Type 2 muscle fiber atrophy (HP:0003554)1.97648503
132Optic disc pallor (HP:0000543)1.96788200
133Decreased central vision (HP:0007663)1.96310057
134Metaphyseal dysplasia (HP:0100255)1.95383623
135Short tibia (HP:0005736)1.94396918
136Inability to walk (HP:0002540)1.94300346
137Hypoplastic iliac wings (HP:0002866)1.92738416
138Aplasia/Hypoplasia of the fibula (HP:0006492)1.91185645
139Disproportionate short-trunk short stature (HP:0003521)1.89691283
140Aplasia/Hypoplasia of the vertebrae (HP:0008515)1.88240930
141Vertebral hypoplasia (HP:0008417)1.88240930
142Male pseudohermaphroditism (HP:0000037)1.86642758
143Hepatocellular necrosis (HP:0001404)1.85863364
144Abnormality of renin-angiotensin system (HP:0000847)1.85509473
1453-Methylglutaconic aciduria (HP:0003535)1.85453177
146Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.83700528
147Focal motor seizures (HP:0011153)1.83218329
148Irregular vertebral endplates (HP:0003301)1.83192339
149Abnormality of the middle phalanges of the toes (HP:0010183)1.82839898
150Hepatic necrosis (HP:0002605)1.81552935
151Aplasia/Hypoplasia involving the pelvis (HP:0009103)1.81331670
152Patchy hypopigmentation of hair (HP:0011365)1.80003666
153Abnormality of the phalanges of the 5th finger (HP:0004213)1.79641853
154Polyuria (HP:0000103)1.79471947
155Neoplasm of the tracheobronchial system (HP:0100552)1.77657787
156Short thorax (HP:0010306)1.77613376
157Severe muscular hypotonia (HP:0006829)1.77278968
158Abnormality of urine glucose concentration (HP:0011016)1.77257283
159Glycosuria (HP:0003076)1.77257283
160Abnormality of the fovea (HP:0000493)1.77115966
161Abnormality of the fibula (HP:0002991)1.76795703
162Pancreatic cysts (HP:0001737)1.76693495
163Abnormal pancreas size (HP:0012094)1.76484181
164Congenital hepatic fibrosis (HP:0002612)1.76159981
165Adactyly (HP:0009776)1.75866878
166Poor coordination (HP:0002370)1.75481252
167White forelock (HP:0002211)1.75319498
168Retinitis pigmentosa (HP:0000510)1.74203368
169Abnormal biliary tract physiology (HP:0012439)1.73686209
170Bile duct proliferation (HP:0001408)1.73686209
171Aplasia/Hypoplasia of the middle phalanges of the hand (HP:0009843)1.73375287
172Arthropathy (HP:0003040)1.72746669
173Fragile nails (HP:0001808)1.72622575
174Gaze-evoked nystagmus (HP:0000640)1.72128936
175Hyperactive renin-angiotensin system (HP:0000841)1.71939695
176Muscle fiber atrophy (HP:0100295)1.71893354
177Aplasia cutis congenita (HP:0001057)1.71629083
178Upper limb muscle weakness (HP:0003484)1.71095948
179Hyperphosphatemia (HP:0002905)1.70958016
180Median cleft lip (HP:0000161)1.70774299
181Intestinal atresia (HP:0011100)1.70433547
182Abdominal distention (HP:0003270)1.69566850
183Retrobulbar optic neuritis (HP:0100654)1.69539175
184Optic neuritis (HP:0100653)1.69539175
185Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)1.69143100
186Hypoplasia of dental enamel (HP:0006297)1.68712112
187Abnormality of the middle phalanges of the hand (HP:0009833)1.67291241
188Ovoid vertebral bodies (HP:0003300)1.66811901
189Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)1.66493649
190Hip dysplasia (HP:0001385)1.65540524
191Cystic hygroma (HP:0000476)1.65057752

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ZAK3.88538521
2TAOK33.72565185
3IRAK33.14794675
4WNK32.72843924
5MAP3K142.63943674
6EPHA22.56286728
7STK38L2.56153179
8ERBB32.53000726
9AKT32.52365633
10MAP4K22.50549450
11WNK42.40625851
12INSRR2.35679131
13TLK12.33258336
14CASK2.28897328
15IRAK42.07092839
16TNIK2.06310309
17BMPR22.05467589
18FRK1.90021567
19ACVR1B1.88274973
20BMPR1B1.87742866
21EPHB21.87453604
22MKNK21.86101986
23MAPK151.85884302
24STK161.82410298
25MST41.80197313
26MST1R1.77095928
27STK391.59689696
28STK241.59565780
29ADRBK11.59370674
30PIK3CA1.59016692
31NUAK11.55617761
32MAP3K31.54439099
33TRPM71.51054482
34NEK61.40945981
35TXK1.36645424
36MAP3K41.34382760
37TIE11.31489496
38PAK31.30935435
39OXSR11.30771553
40DAPK21.30150376
41EIF2AK21.29914116
42MARK11.28788150
43PIM21.28365982
44YES11.26306542
45NLK1.26073788
46SRPK11.25953741
47PKN11.25949626
48CDK81.24569982
49CDK31.23027143
50SGK21.21244734
51PLK41.18195881
52GRK11.15838573
53EIF2AK31.15699436
54BRAF1.15381612
55BRSK21.13092745
56DYRK21.12584073
57PRKG21.12285455
58MAP3K121.11220399
59ADRBK21.10592356
60PHKG21.08352600
61PHKG11.08352600
62PRPF4B1.07036987
63MUSK1.06543333
64SIK31.05642576
65EPHA31.05043163
66MAPKAPK31.04954033
67MKNK11.04175798
68MAP2K71.00818429
69PIK3CG1.00555084
70PNCK0.98654861
71NME10.98536249
72BCKDK0.95749602
73TEC0.94093755
74CSNK1G10.93593688
75PASK0.91527939
76PRKCE0.90012493
77BCR0.87368683
78TGFBR10.87058643
79NTRK30.85427777
80TAOK20.84686793
81PINK10.83872090
82IRAK10.83741069
83GRK70.83709641
84MAP2K20.83398405
85PRKCG0.81942957
86CHUK0.80418275
87CSNK1G20.78963782
88SGK2230.78924753
89SGK4940.78924753
90IKBKB0.78818546
91MAPK130.78098111
92PDK20.75353355
93CSNK1G30.75350849
94ERBB20.67691981
95RPS6KA50.66942649
96WEE10.63724013
97CSNK1A1L0.62801537
98EPHA40.62789515
99TRIM280.61324459
100KIT0.61104612
101FER0.57651281
102PRKCQ0.57540587
103CAMK2A0.55638183
104JAK30.54856287
105MYLK0.54352944
106SGK30.52437563
107VRK10.51924691
108ARAF0.51665932
109PRKCI0.51069387
110DDR20.50752432
111FLT30.49822824
112PRKACA0.49527081
113MAPKAPK50.48985341
114PRKD30.47180793
115PTK2B0.47077212
116MAPK70.46497375
117CCNB10.46002458
118MET0.45281396
119NTRK20.43565017
120PLK30.43389900
121CAMK10.43160826
122MAP2K60.42990210
123PRKG10.42693673
124PRKCD0.42233714
125GRK50.41895517
126CAMK2D0.41745482
127TNK20.39593056
128PLK20.38693597
129IKBKE0.38345401
130RPS6KB10.37407498
131CSNK1A10.36692462
132NEK90.36312826
133ABL20.36171249
134GSK3A0.36155361
135CAMK2B0.35107707
136PRKCZ0.34423362
137TTK0.34289943
138DYRK1A0.32329696
139PRKD20.31777473
140TESK10.30577227
141CDC42BPA0.30409717
142PRKCA0.28910064
143MAPKAPK20.28472647
144SGK10.27627645
145ATR0.27041649
146CAMK2G0.25403562
147BTK0.23780405
148STK30.23629223
149CAMKK20.22177767
150NME20.22088000

Predicted pathways (KEGG)

RankGene SetZ-score
1Sulfur metabolism_Homo sapiens_hsa009204.38933697
2Maturity onset diabetes of the young_Homo sapiens_hsa049503.16254552
3Phototransduction_Homo sapiens_hsa047442.98797815
4Protein export_Homo sapiens_hsa030602.92796231
5Nitrogen metabolism_Homo sapiens_hsa009102.45626729
6Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.43320976
7Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.33932086
8Sphingolipid metabolism_Homo sapiens_hsa006002.32471174
9Caffeine metabolism_Homo sapiens_hsa002322.28723692
10Arachidonic acid metabolism_Homo sapiens_hsa005902.26932930
11Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.16233103
12Butanoate metabolism_Homo sapiens_hsa006502.06790071
13Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005202.05842757
14Parkinsons disease_Homo sapiens_hsa050121.94197627
15Intestinal immune network for IgA production_Homo sapiens_hsa046721.84142557
16Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.81490679
17Nicotine addiction_Homo sapiens_hsa050331.78929949
18Other glycan degradation_Homo sapiens_hsa005111.64159757
19Regulation of autophagy_Homo sapiens_hsa041401.60898556
20Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.60862044
21Mineral absorption_Homo sapiens_hsa049781.56955284
22RNA polymerase_Homo sapiens_hsa030201.54721169
23Linoleic acid metabolism_Homo sapiens_hsa005911.52514885
24Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.45541327
25alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.45082831
26Tryptophan metabolism_Homo sapiens_hsa003801.44482698
27Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.44043521
28Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.43940116
29Alzheimers disease_Homo sapiens_hsa050101.41641058
30Autoimmune thyroid disease_Homo sapiens_hsa053201.38076526
31Sulfur relay system_Homo sapiens_hsa041221.37426263
32Huntingtons disease_Homo sapiens_hsa050161.32183632
33SNARE interactions in vesicular transport_Homo sapiens_hsa041301.31679613
34NF-kappa B signaling pathway_Homo sapiens_hsa040641.30886223
35Selenocompound metabolism_Homo sapiens_hsa004501.28739008
36Olfactory transduction_Homo sapiens_hsa047401.27292936
37Homologous recombination_Homo sapiens_hsa034401.25819185
38Basal transcription factors_Homo sapiens_hsa030221.25546099
39Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.23221095
40Fanconi anemia pathway_Homo sapiens_hsa034601.22834457
41Histidine metabolism_Homo sapiens_hsa003401.22645794
42Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.22237784
43Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.21524775
44Peroxisome_Homo sapiens_hsa041461.18680516
45Vitamin digestion and absorption_Homo sapiens_hsa049771.18513910
46Rheumatoid arthritis_Homo sapiens_hsa053231.18413968
47Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.17949999
48Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.15401539
49Steroid biosynthesis_Homo sapiens_hsa001001.15101471
50Retinol metabolism_Homo sapiens_hsa008301.14577633
51Graft-versus-host disease_Homo sapiens_hsa053321.13366266
52Ether lipid metabolism_Homo sapiens_hsa005651.11117781
53Cardiac muscle contraction_Homo sapiens_hsa042601.10994351
54N-Glycan biosynthesis_Homo sapiens_hsa005101.07935975
55Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.05952230
56ABC transporters_Homo sapiens_hsa020101.04899460
57Morphine addiction_Homo sapiens_hsa050320.99310800
58Allograft rejection_Homo sapiens_hsa053300.99139588
59Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.97807417
60Propanoate metabolism_Homo sapiens_hsa006400.97795442
61Protein digestion and absorption_Homo sapiens_hsa049740.93000051
62Asthma_Homo sapiens_hsa053100.92995229
63Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.92713851
64Ribosome_Homo sapiens_hsa030100.92701366
65Galactose metabolism_Homo sapiens_hsa000520.91826700
66Proteasome_Homo sapiens_hsa030500.89980962
67beta-Alanine metabolism_Homo sapiens_hsa004100.88393047
68Vibrio cholerae infection_Homo sapiens_hsa051100.87636006
69RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.86494575
70Steroid hormone biosynthesis_Homo sapiens_hsa001400.86033800
71NOD-like receptor signaling pathway_Homo sapiens_hsa046210.85748867
72Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.84760447
73Hematopoietic cell lineage_Homo sapiens_hsa046400.84160402
74Pyrimidine metabolism_Homo sapiens_hsa002400.83967263
75Purine metabolism_Homo sapiens_hsa002300.82143882
76GABAergic synapse_Homo sapiens_hsa047270.80228967
77Toll-like receptor signaling pathway_Homo sapiens_hsa046200.80164300
78Type I diabetes mellitus_Homo sapiens_hsa049400.79614831
79Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.79474103
80Legionellosis_Homo sapiens_hsa051340.77938349
81Glutamatergic synapse_Homo sapiens_hsa047240.77106054
82Circadian entrainment_Homo sapiens_hsa047130.77050045
83Folate biosynthesis_Homo sapiens_hsa007900.76350563
84Primary bile acid biosynthesis_Homo sapiens_hsa001200.74729641
85Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.74619232
86Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.74102472
87Circadian rhythm_Homo sapiens_hsa047100.73847702
88Cyanoamino acid metabolism_Homo sapiens_hsa004600.73690251
89Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.73462166
90Fat digestion and absorption_Homo sapiens_hsa049750.73392151
91TNF signaling pathway_Homo sapiens_hsa046680.73389014
92Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.73359195
93ECM-receptor interaction_Homo sapiens_hsa045120.71217212
94Glycerolipid metabolism_Homo sapiens_hsa005610.69998644
95Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.68906896
96p53 signaling pathway_Homo sapiens_hsa041150.68257796
97Glycosaminoglycan degradation_Homo sapiens_hsa005310.66557769
98Salivary secretion_Homo sapiens_hsa049700.66150492
99Non-homologous end-joining_Homo sapiens_hsa034500.65641000
100Oxidative phosphorylation_Homo sapiens_hsa001900.63408410
101Measles_Homo sapiens_hsa051620.62633277
102One carbon pool by folate_Homo sapiens_hsa006700.62604103
103Phenylalanine metabolism_Homo sapiens_hsa003600.62506033
104Phagosome_Homo sapiens_hsa041450.62170628
105Chemical carcinogenesis_Homo sapiens_hsa052040.61777452
106Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.60269881
107Hedgehog signaling pathway_Homo sapiens_hsa043400.55848757
108Drug metabolism - other enzymes_Homo sapiens_hsa009830.55707211
109Fatty acid elongation_Homo sapiens_hsa000620.55160431
110Collecting duct acid secretion_Homo sapiens_hsa049660.55060626
111Fructose and mannose metabolism_Homo sapiens_hsa000510.54445817
112Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.53293193
113Taste transduction_Homo sapiens_hsa047420.53121531
114Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.52967517
115Hepatitis C_Homo sapiens_hsa051600.51920635
116Serotonergic synapse_Homo sapiens_hsa047260.51900903
117Glutathione metabolism_Homo sapiens_hsa004800.50972652
118Influenza A_Homo sapiens_hsa051640.50917953
119Fatty acid degradation_Homo sapiens_hsa000710.50481559
120RNA degradation_Homo sapiens_hsa030180.48593036
121Basal cell carcinoma_Homo sapiens_hsa052170.48581878
122Calcium signaling pathway_Homo sapiens_hsa040200.48572611
123Lysosome_Homo sapiens_hsa041420.47888012
124Nucleotide excision repair_Homo sapiens_hsa034200.47840106
125Insulin secretion_Homo sapiens_hsa049110.47327979
126Herpes simplex infection_Homo sapiens_hsa051680.47202293
127Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.47124273
128Melanoma_Homo sapiens_hsa052180.45461532
129Base excision repair_Homo sapiens_hsa034100.44682599
130Ovarian steroidogenesis_Homo sapiens_hsa049130.44649507
131Primary immunodeficiency_Homo sapiens_hsa053400.43902151
132Glycerophospholipid metabolism_Homo sapiens_hsa005640.42738246
133Leishmaniasis_Homo sapiens_hsa051400.42471075
134Fatty acid biosynthesis_Homo sapiens_hsa000610.42380373
135Starch and sucrose metabolism_Homo sapiens_hsa005000.42362229
136Dopaminergic synapse_Homo sapiens_hsa047280.42274331
137Pentose and glucuronate interconversions_Homo sapiens_hsa000400.42110009
138Jak-STAT signaling pathway_Homo sapiens_hsa046300.42007443
139Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.40541099
140Metabolic pathways_Homo sapiens_hsa011000.39247420
141Amphetamine addiction_Homo sapiens_hsa050310.38590138
142Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.37910968
143Cocaine addiction_Homo sapiens_hsa050300.37703833
144Apoptosis_Homo sapiens_hsa042100.37532871
145Renin secretion_Homo sapiens_hsa049240.37052298
146Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.36705082
147Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.36188304
148Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.34746236
149Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.32236020

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