KLHL20

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 kelch family of proteins, which is characterized by a 44-56 amino acid repeat motif. The kelch motif appears in many different polypeptide contexts and contains multiple potential protein-protein contact sites. Members of this family are present both throughout the cell and extracellularly, with diverse activities. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1piRNA metabolic process (GO:0034587)5.14846498
2antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.80606514
3regulation of meiosis I (GO:0060631)4.77868140
4DNA deamination (GO:0045006)4.33514872
5lymphoid progenitor cell differentiation (GO:0002320)4.24441533
6synapsis (GO:0007129)3.97754538
7interleukin-6-mediated signaling pathway (GO:0070102)3.93489071
8telomere maintenance via semi-conservative replication (GO:0032201)3.79771685
9negative regulation of potassium ion transmembrane transporter activity (GO:1901017)3.73151595
10DNA methylation involved in gamete generation (GO:0043046)3.65799070
11regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:00033393.60729870
12positive regulation of gamma-delta T cell activation (GO:0046645)3.60434045
13meiotic chromosome segregation (GO:0045132)3.56886947
14telomere maintenance via recombination (GO:0000722)3.45101553
15negative regulation of granulocyte differentiation (GO:0030853)3.40971170
16regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)3.38437287
17regulation of pigment cell differentiation (GO:0050932)3.28873365
18somite development (GO:0061053)3.28833225
19regulation of glucocorticoid secretion (GO:2000849)3.28495547
20mannosylation (GO:0097502)3.27421778
21mismatch repair (GO:0006298)3.27367529
22centriole replication (GO:0007099)3.26977787
23generation of neurons (GO:0048699)3.20589152
24respiratory chain complex IV assembly (GO:0008535)3.17670634
25urogenital system development (GO:0001655)3.15581545
26anterograde synaptic vesicle transport (GO:0048490)3.15176155
27negative regulation of potassium ion transmembrane transport (GO:1901380)3.14857654
28facial nerve structural organization (GO:0021612)3.13175524
29negative regulation of metanephros development (GO:0072217)3.11447622
30negative regulation of myotube differentiation (GO:0010832)3.09023488
31limb bud formation (GO:0060174)3.07765015
32mesonephros development (GO:0001823)3.05295899
33platelet dense granule organization (GO:0060155)3.04703168
34male meiosis (GO:0007140)3.04620408
35sister chromatid cohesion (GO:0007062)3.04201823
36C-terminal protein lipidation (GO:0006501)3.04108867
37definitive hemopoiesis (GO:0060216)3.03910018
38detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.03598105
39positive regulation of T cell mediated cytotoxicity (GO:0001916)3.03140555
40regulation of corticosteroid hormone secretion (GO:2000846)3.00478354
41resolution of meiotic recombination intermediates (GO:0000712)2.99832568
42gene silencing by RNA (GO:0031047)2.98805588
43mast cell activation (GO:0045576)2.97947371
44nonmotile primary cilium assembly (GO:0035058)2.97472746
45mitotic sister chromatid cohesion (GO:0007064)2.97121931
46positive regulation of cellular amine metabolic process (GO:0033240)2.96794314
47positive regulation of B cell differentiation (GO:0045579)2.96200053
48mitotic recombination (GO:0006312)2.96110552
49cell differentiation involved in metanephros development (GO:0072202)2.95188425
50ribosomal small subunit assembly (GO:0000028)2.94361839
51mature B cell differentiation (GO:0002335)2.94055252
52GPI anchor biosynthetic process (GO:0006506)2.93496688
53mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)2.93363898
54male meiosis I (GO:0007141)2.93098072
55negative regulation of systemic arterial blood pressure (GO:0003085)2.92187317
56pattern specification involved in kidney development (GO:0061004)2.90744768
57regulation of necroptotic process (GO:0060544)2.88613184
58defense response to protozoan (GO:0042832)2.88141607
59DNA replication initiation (GO:0006270)2.87572463
60lymph node development (GO:0048535)2.87157910
61regulation of granulocyte differentiation (GO:0030852)2.86793313
62cullin deneddylation (GO:0010388)2.84509893
63acrosome assembly (GO:0001675)2.84107141
64T cell homeostasis (GO:0043029)2.83523461
65neural tube formation (GO:0001841)2.82696750
66regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.81866667
67regulation of apoptotic process involved in morphogenesis (GO:1902337)2.81198008
68organelle disassembly (GO:1903008)2.81123110
69developmental pigmentation (GO:0048066)2.80515837
70chromosome organization involved in meiosis (GO:0070192)2.79311541
71ribonucleoprotein complex disassembly (GO:0032988)2.78828388
72nephron tubule formation (GO:0072079)2.77833791
73UDP-N-acetylglucosamine metabolic process (GO:0006047)2.77397353
74DNA strand elongation involved in DNA replication (GO:0006271)2.77030242
75deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.76988451
76behavioral response to nicotine (GO:0035095)2.76557245
77detection of other organism (GO:0098543)2.76453033
78mature B cell differentiation involved in immune response (GO:0002313)2.76070376
79positive regulation of granulocyte differentiation (GO:0030854)2.75800225
80negative regulation of axon guidance (GO:1902668)2.74633840
81negative regulation of erythrocyte differentiation (GO:0045647)2.74564820
82reciprocal meiotic recombination (GO:0007131)2.73704762
83reciprocal DNA recombination (GO:0035825)2.73704762
84regulation of RIG-I signaling pathway (GO:0039535)2.73571825
85detection of bacterium (GO:0016045)2.73081534
86response to interferon-beta (GO:0035456)2.72661863
87DNA synthesis involved in DNA repair (GO:0000731)2.72579306
88fucose catabolic process (GO:0019317)2.72165941
89L-fucose metabolic process (GO:0042354)2.72165941
90L-fucose catabolic process (GO:0042355)2.72165941
91DNA strand elongation (GO:0022616)2.71954611
92negative regulation of transcription by competitive promoter binding (GO:0010944)2.71913144
93postsynaptic membrane organization (GO:0001941)2.69426426
94positive regulation of type I interferon-mediated signaling pathway (GO:0060340)2.68994170
95negative regulation of mesenchymal cell apoptotic process (GO:2001054)2.68565839
96telomere maintenance via telomere lengthening (GO:0010833)2.68088452
97C-terminal protein amino acid modification (GO:0018410)2.67567018
98positive regulation of macrophage differentiation (GO:0045651)2.67240401
99endosome to pigment granule transport (GO:0043485)2.66899420
100endosome to melanosome transport (GO:0035646)2.66899420
101interferon-gamma production (GO:0032609)2.66729489
102kinetochore assembly (GO:0051382)2.66639686
103regulation of timing of cell differentiation (GO:0048505)2.66243805
104microtubule anchoring (GO:0034453)2.65499747
105myeloid leukocyte mediated immunity (GO:0002444)2.65406324
106regulation of T cell mediated cytotoxicity (GO:0001914)2.64178125
107intra-S DNA damage checkpoint (GO:0031573)2.62273146
108regulation of steroid hormone secretion (GO:2000831)2.62194370
109neutrophil mediated immunity (GO:0002446)2.61870265
110sequestering of actin monomers (GO:0042989)2.60378614
111response to redox state (GO:0051775)2.60275127
112regulation of B cell differentiation (GO:0045577)2.59920682
113regulation of nuclear cell cycle DNA replication (GO:0033262)2.59572002
114myeloid dendritic cell activation (GO:0001773)2.59282347
115regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039531)2.58799153
116viral genome replication (GO:0019079)2.58363393
117secretory granule organization (GO:0033363)2.58186163
118positive regulation of protein export from nucleus (GO:0046827)2.57654454
119cytochrome complex assembly (GO:0017004)2.57531219
120negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)2.57164826
121regulation of non-canonical Wnt signaling pathway (GO:2000050)2.57098776
122female gamete generation (GO:0007292)2.56935405
123histone H2A acetylation (GO:0043968)2.56906972
124tRNA methylation (GO:0030488)2.56309930
125presynaptic membrane assembly (GO:0097105)2.56129441
126negative regulation of necroptotic process (GO:0060546)2.56123582
127NIK/NF-kappaB signaling (GO:0038061)2.55583900
128protein K11-linked deubiquitination (GO:0035871)2.54397841
129regulation of appetite (GO:0032098)2.54201109
130cranial nerve morphogenesis (GO:0021602)2.53721293
131megakaryocyte development (GO:0035855)2.53685791
132response to protozoan (GO:0001562)2.53405943
133DNA integration (GO:0015074)2.53299382
134photoreceptor cell differentiation (GO:0046530)2.52773296
135eye photoreceptor cell differentiation (GO:0001754)2.52773296
136positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.52706478
137reflex (GO:0060004)2.51933172
138antigen processing and presentation via MHC class Ib (GO:0002475)2.51332064
139response to nitrosative stress (GO:0051409)2.50613455
140phospholipid scrambling (GO:0017121)2.50612090
141centriole assembly (GO:0098534)2.50105506
142response to peptidoglycan (GO:0032494)2.49714688
143cilium morphogenesis (GO:0060271)2.48612576
144pericardium development (GO:0060039)2.47478153
145regulation of necrotic cell death (GO:0010939)2.47112304
146positive regulation of meiosis (GO:0045836)2.46279142
147regulation of hippo signaling (GO:0035330)2.46085807
148regulation of histone H3-K27 methylation (GO:0061085)2.45993579
149mast cell activation involved in immune response (GO:0002279)2.45500524
150mast cell degranulation (GO:0043303)2.45500524
151T cell lineage commitment (GO:0002360)2.45264681
152regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)2.44854907
153immunoglobulin mediated immune response (GO:0016064)2.43696112
154regulation of development, heterochronic (GO:0040034)2.43264318
155necroptotic process (GO:0070266)2.43238323
156meiosis I (GO:0007127)2.43151590
157DNA-dependent DNA replication (GO:0006261)2.42788060
158regulation of B cell receptor signaling pathway (GO:0050855)2.42693732
159DNA dealkylation (GO:0035510)2.42474696
160photoreceptor cell maintenance (GO:0045494)2.42008182
161nucleus localization (GO:0051647)2.41645622
162retinal cone cell development (GO:0046549)2.38841084
163otic vesicle formation (GO:0030916)2.38334163
164positive regulation of mRNA processing (GO:0050685)2.38273407
165head development (GO:0060322)2.36747744
166establishment of nucleus localization (GO:0040023)2.36525389
167regulation of cilium movement (GO:0003352)2.36192486
168protein deneddylation (GO:0000338)2.34684744
169synaptonemal complex organization (GO:0070193)2.34538919
170meiotic nuclear division (GO:0007126)2.34047224
171regulation of sarcomere organization (GO:0060297)2.33811002
172positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.32060137
173anterograde axon cargo transport (GO:0008089)2.29941320
174ubiquinone biosynthetic process (GO:0006744)2.29718258
175regulation of DNA endoreduplication (GO:0032875)2.28537545
176positive regulation of mitochondrial fission (GO:0090141)2.28095970
177neural crest cell development (GO:0014032)2.26814532
178retrograde transport, vesicle recycling within Golgi (GO:0000301)2.26751234
179protein-cofactor linkage (GO:0018065)2.25857876
180replication fork processing (GO:0031297)2.25699854
181protein targeting to Golgi (GO:0000042)2.25437329
182magnesium ion transport (GO:0015693)2.25078616
183meiotic cell cycle process (GO:1903046)2.24209235
184negative regulation of DNA recombination (GO:0045910)2.23686159
185negative regulation of axon extension involved in axon guidance (GO:0048843)2.23457199
186positive regulation of meiotic cell cycle (GO:0051446)2.23297751
187RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.23049081
188pigmentation (GO:0043473)2.22254803
189ubiquinone metabolic process (GO:0006743)2.21962601
190cerebral cortex radially oriented cell migration (GO:0021799)2.21787767
191axoneme assembly (GO:0035082)2.20197652
192establishment of protein localization to Golgi (GO:0072600)2.20106495
193cysteine metabolic process (GO:0006534)2.19312650
194kinetochore organization (GO:0051383)2.18995920
195protein polyglutamylation (GO:0018095)2.18908734
196negative regulation of meiosis (GO:0045835)2.18500567

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human4.97377336
2RBPJ_22232070_ChIP-Seq_NCS_Mouse3.92146183
3SCL_19346495_ChIP-Seq_HPC-7_Human3.43846756
4IRF8_22096565_ChIP-ChIP_GC-B_Human3.30597192
5IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.25126268
6NOTCH1_21737748_ChIP-Seq_TLL_Human3.14446965
7SALL1_21062744_ChIP-ChIP_HESCs_Human2.96059788
8MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.92094238
9FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.88882726
10FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.84081871
11SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.76534551
12FUS_26573619_Chip-Seq_HEK293_Human2.75902760
13GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.65125416
14IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.59612172
15CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.57820809
16VDR_22108803_ChIP-Seq_LS180_Human2.57075274
17HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.49724762
18TAF15_26573619_Chip-Seq_HEK293_Human2.48311294
19* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.46964247
20RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.43153262
21ELF1_17652178_ChIP-ChIP_JURKAT_Human2.41196425
22IRF8_21731497_ChIP-ChIP_J774_Mouse2.41122938
23BP1_19119308_ChIP-ChIP_Hs578T_Human2.41095088
24LYL1_20887958_ChIP-Seq_HPC-7_Mouse2.39200170
25ZNF274_21170338_ChIP-Seq_K562_Hela2.36506906
26PCGF2_27294783_Chip-Seq_ESCs_Mouse2.35659279
27SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.31617868
28FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.27567844
29E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.20111481
30FLI1_27457419_Chip-Seq_LIVER_Mouse2.16545311
31STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.10134050
32BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.08167839
33E2F4_17652178_ChIP-ChIP_JURKAT_Human2.00583695
34MYB_21317192_ChIP-Seq_ERMYB_Mouse1.98111347
35EZH2_22144423_ChIP-Seq_EOC_Human1.97706341
36ERG_20887958_ChIP-Seq_HPC-7_Mouse1.96967233
37P300_19829295_ChIP-Seq_ESCs_Human1.96764113
38MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.95935672
39SPI1_23547873_ChIP-Seq_NB4_Human1.92685330
40* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.92672059
41STAT4_19710469_ChIP-ChIP_TH1__Mouse1.90641535
42SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.90518716
43ER_23166858_ChIP-Seq_MCF-7_Human1.89368556
44TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.86119365
45PCGF2_27294783_Chip-Seq_NPCs_Mouse1.85906692
46CTBP2_25329375_ChIP-Seq_LNCAP_Human1.83725697
47PIAS1_25552417_ChIP-Seq_VCAP_Human1.82185588
48NFE2_27457419_Chip-Seq_LIVER_Mouse1.80799283
49IGF1R_20145208_ChIP-Seq_DFB_Human1.79084201
50STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.78550230
51MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.73736124
52* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.70778506
53SUZ12_27294783_Chip-Seq_NPCs_Mouse1.70622417
54PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.69587737
55* SMAD4_21799915_ChIP-Seq_A2780_Human1.69302685
56* EST1_17652178_ChIP-ChIP_JURKAT_Human1.67704538
57SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.66876536
58OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.65186515
59LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.64842623
60HOXB4_20404135_ChIP-ChIP_EML_Mouse1.64160834
61MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.63886525
62CTBP1_25329375_ChIP-Seq_LNCAP_Human1.63343477
63TP63_19390658_ChIP-ChIP_HaCaT_Human1.62811203
64FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.62205968
65MYB_26560356_Chip-Seq_TH2_Human1.59055810
66IRF8_27001747_Chip-Seq_BMDM_Mouse1.57956312
67GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.56767934
68FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.55560088
69CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.54886128
70IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.53563739
71CBP_20019798_ChIP-Seq_JUKART_Human1.53563739
72SMAD_19615063_ChIP-ChIP_OVARY_Human1.53520506
73RUNX_20019798_ChIP-Seq_JUKART_Human1.52564338
74SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.50475438
75UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.48823843
76BCAT_22108803_ChIP-Seq_LS180_Human1.47371013
77* EZH2_27294783_Chip-Seq_NPCs_Mouse1.46979711
78* PADI4_21655091_ChIP-ChIP_MCF-7_Human1.44020451
79ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.42639229
80HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.42394670
81SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.41492380
82NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.41284581
83SMAD3_21741376_ChIP-Seq_EPCs_Human1.41009345
84PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.40097575
85MYB_26560356_Chip-Seq_TH1_Human1.39317498
86AR_25329375_ChIP-Seq_VCAP_Human1.38924127
87TOP2B_26459242_ChIP-Seq_MCF-7_Human1.38820609
88STAT3_23295773_ChIP-Seq_U87_Human1.38796930
89CIITA_25753668_ChIP-Seq_RAJI_Human1.37632427
90* VDR_23849224_ChIP-Seq_CD4+_Human1.37421105
91MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.36221734
92NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.35573098
93* SUZ12_18555785_Chip-Seq_ESCs_Mouse1.34726314
94CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.33342435
95VDR_24763502_ChIP-Seq_THP-1_Human1.32798152
96GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.32610397
97* STAT3_18555785_Chip-Seq_ESCs_Mouse1.29456049
98NR3C1_21868756_ChIP-Seq_MCF10A_Human1.29244494
99* FOXP3_21729870_ChIP-Seq_TREG_Human1.28891595
100RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.28307787
101TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.27545280
102* ZFP57_27257070_Chip-Seq_ESCs_Mouse1.25360044
103NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.24312787
104NRF2_20460467_ChIP-Seq_MEFs_Mouse1.24312787
105GBX2_23144817_ChIP-Seq_PC3_Human1.23960728
106KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.23196909
107* EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.22951815
108TCF4_23295773_ChIP-Seq_U87_Human1.22677519
109* P53_22387025_ChIP-Seq_ESCs_Mouse1.22231881
110SRF_21415370_ChIP-Seq_HL-1_Mouse1.21856452
111KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.21028775
112HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.20553085
113* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.19595536
114* GABP_17652178_ChIP-ChIP_JURKAT_Human1.19261094
115HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.18672412
116RUNX1_22412390_ChIP-Seq_EML_Mouse1.18639220
117STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.18569178
118WT1_19549856_ChIP-ChIP_CCG9911_Human1.18317708
119* P300_18555785_Chip-Seq_ESCs_Mouse1.17395711
120VDR_21846776_ChIP-Seq_THP-1_Human1.17127775
121* JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.16842295
122* NMYC_18555785_Chip-Seq_ESCs_Mouse1.16822318
123KLF5_20875108_ChIP-Seq_MESCs_Mouse1.15981074
124* NANOG_18555785_Chip-Seq_ESCs_Mouse1.15807050
125MYC_18555785_ChIP-Seq_MESCs_Mouse1.15534470
126MYC_18940864_ChIP-ChIP_HL60_Human1.14921591
127IRF1_19129219_ChIP-ChIP_H3396_Human1.14917977
128* RUNX1_27457419_Chip-Seq_LIVER_Mouse1.13850484
129TP53_16413492_ChIP-PET_HCT116_Human1.12583126
130* OCT4_18555785_Chip-Seq_ESCs_Mouse1.12319165
131* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.11972015
132PU_27001747_Chip-Seq_BMDM_Mouse1.11191999
133FOXM1_26456572_ChIP-Seq_MCF-7_Human1.10577816
134* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.09950507
135* CRX_20693478_ChIP-Seq_RETINA_Mouse1.09905392
136TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.09867883
137* ELK1_19687146_ChIP-ChIP_HELA_Human1.09858888
138* EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.09156903
139PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.09127451
140CDX2_22108803_ChIP-Seq_LS180_Human1.08708210
141CJUN_26792858_Chip-Seq_BT549_Human1.08495617
142* E2F1_18555785_Chip-Seq_ESCs_Mouse1.07792817
143SMAD4_21741376_ChIP-Seq_EPCs_Human1.07249206
144TP53_18474530_ChIP-ChIP_U2OS_Human1.06483639
145* RUNX2_22187159_ChIP-Seq_PCA_Human1.06258159
146RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.06070880
147TCF4_18268006_ChIP-ChIP_LS174T_Human1.06027616
148CBX2_27304074_Chip-Seq_ESCs_Mouse1.05118090
149* CMYC_18555785_Chip-Seq_ESCs_Mouse1.04519288
150* ZFX_18555785_Chip-Seq_ESCs_Mouse1.04371850
151GATA1_22025678_ChIP-Seq_K562_Human1.04347135
152EWS_26573619_Chip-Seq_HEK293_Human1.04055343
153TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.03351134
154TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02046551
155POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.02046551
156CDX2_19796622_ChIP-Seq_MESCs_Mouse1.01836535
157FLI1_21867929_ChIP-Seq_TH2_Mouse1.01597635
158* PU1_27457419_Chip-Seq_LIVER_Mouse1.01477855
159GATA2_22383799_ChIP-Seq_G1ME_Mouse1.01215384
160BRD4_25478319_ChIP-Seq_HGPS_Human1.01082436
161GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.00912534
162CREB1_15753290_ChIP-ChIP_HEK293T_Human1.00656911
163GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.99436994
164* ESRRB_18555785_Chip-Seq_ESCs_Mouse0.98602411
165* SOX9_26525672_Chip-Seq_Limbbuds_Mouse0.98451663
166* KLF4_18555785_Chip-Seq_ESCs_Mouse0.98235813
167* SOX2_18555785_Chip-Seq_ESCs_Mouse0.98134841
168* CTCF_18555785_Chip-Seq_ESCs_Mouse0.98006664
169SPI1_23127762_ChIP-Seq_K562_Human0.97644911
170FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.96877046

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005174_abnormal_tail_pigmentation3.96333052
2MP0005409_darkened_coat_color3.56387016
3MP0001188_hyperpigmentation3.48275529
4MP0000015_abnormal_ear_pigmentation3.47249692
5MP0002396_abnormal_hematopoietic_system3.38774351
6MP0009379_abnormal_foot_pigmentation2.96313091
7MP0001835_abnormal_antigen_presentation2.80803858
8MP0005075_abnormal_melanosome_morpholog2.71173841
9MP0006292_abnormal_olfactory_placode2.69491695
10MP0003136_yellow_coat_color2.52794391
11MP0001984_abnormal_olfaction2.51250540
12MP0005671_abnormal_response_to2.50151188
13MP0002095_abnormal_skin_pigmentation2.47520598
14MP0000490_abnormal_crypts_of2.37009791
15MP0003724_increased_susceptibility_to2.28693049
16MP0008877_abnormal_DNA_methylation2.17834364
17MP0009785_altered_susceptibility_to2.17384270
18MP0003763_abnormal_thymus_physiology2.17276570
19MP0008789_abnormal_olfactory_epithelium2.17273745
20MP0004381_abnormal_hair_follicle2.15198516
21MP0008058_abnormal_DNA_repair2.14716574
22MP0001986_abnormal_taste_sensitivity2.06329244
23MP0000685_abnormal_immune_system2.01539843
24MP0008057_abnormal_DNA_replication1.98603422
25MP0005503_abnormal_tendon_morphology1.96475357
26MP0000372_irregular_coat_pigmentation1.94608919
27MP0001800_abnormal_humoral_immune1.83117366
28MP0005025_abnormal_response_to1.82793880
29MP0004484_altered_response_of1.81676580
30MP0002398_abnormal_bone_marrow1.77230941
31MP0009780_abnormal_chondrocyte_physiolo1.77164520
32MP0002148_abnormal_hypersensitivity_rea1.76549893
33MP0001299_abnormal_eye_distance/1.74463184
34MP0002420_abnormal_adaptive_immunity1.73573003
35MP0002723_abnormal_immune_serum1.73351595
36MP0008007_abnormal_cellular_replicative1.72961063
37MP0001819_abnormal_immune_cell1.71048036
38MP0002233_abnormal_nose_morphology1.68729116
39MP0000465_gastrointestinal_hemorrhage1.68640781
40MP0004808_abnormal_hematopoietic_stem1.68007598
41MP0005000_abnormal_immune_tolerance1.67696976
42MP0002452_abnormal_antigen_presenting1.67096498
43MP0003718_maternal_effect1.64149372
44MP0000427_abnormal_hair_cycle1.62298540
45MP0002837_dystrophic_cardiac_calcinosis1.61072676
46MP0010094_abnormal_chromosome_stability1.59930783
47MP0003937_abnormal_limbs/digits/tail_de1.58440904
48MP0002419_abnormal_innate_immunity1.57439933
49MP0008260_abnormal_autophagy1.56793088
50MP0002234_abnormal_pharynx_morphology1.56724829
51MP0000716_abnormal_immune_system1.55916755
52MP0004272_abnormal_basement_membrane1.53596863
53MP0004147_increased_porphyrin_level1.53113447
54MP0000569_abnormal_digit_pigmentation1.52591965
55MP0003950_abnormal_plasma_membrane1.50260280
56MP0001790_abnormal_immune_system1.47783673
57MP0005387_immune_system_phenotype1.47783673
58MP0003755_abnormal_palate_morphology1.46193467
59MP0009333_abnormal_splenocyte_physiolog1.45845858
60MP0001873_stomach_inflammation1.45173898
61MP0010386_abnormal_urinary_bladder1.45004544
62MP0000689_abnormal_spleen_morphology1.44320287
63MP0001529_abnormal_vocalization1.43401866
64MP0000681_abnormal_thyroid_gland1.42422143
65MP0005397_hematopoietic_system_phenotyp1.35973970
66MP0001545_abnormal_hematopoietic_system1.35973970
67MP0004215_abnormal_myocardial_fiber1.35743238
68MP0009250_abnormal_appendicular_skeleto1.35057638
69MP0000013_abnormal_adipose_tissue1.34524618
70MP0002108_abnormal_muscle_morphology1.34520146
71MP0005499_abnormal_olfactory_system1.34144789
72MP0005394_taste/olfaction_phenotype1.34144789
73MP0003436_decreased_susceptibility_to1.33716751
74MP0010155_abnormal_intestine_physiology1.33604782
75MP0002166_altered_tumor_susceptibility1.33060370
76MP0002722_abnormal_immune_system1.32476802
77MP0005187_abnormal_penis_morphology1.32367576
78MP0002177_abnormal_outer_ear1.29611642
79MP0002429_abnormal_blood_cell1.29199906
80MP0002132_abnormal_respiratory_system1.27693666
81MP0002006_tumorigenesis1.27371258
82MP0006072_abnormal_retinal_apoptosis1.26666916
83MP0001293_anophthalmia1.22921519
84MP0003646_muscle_fatigue1.22511429
85MP0005464_abnormal_platelet_physiology1.22306067
86MP0003935_abnormal_craniofacial_develop1.21512128
87MP0002075_abnormal_coat/hair_pigmentati1.20572629
88MP0001968_abnormal_touch/_nociception1.19469579
89MP0000703_abnormal_thymus_morphology1.19087945
90MP0000647_abnormal_sebaceous_gland1.17138251
91MP0005551_abnormal_eye_electrophysiolog1.15990755
92MP0005253_abnormal_eye_physiology1.15488569
93MP0000778_abnormal_nervous_system1.15116894
94MP0000749_muscle_degeneration1.13942761
95MP0006054_spinal_hemorrhage1.11660686
96MP0002909_abnormal_adrenal_gland1.11571891
97MP0000762_abnormal_tongue_morphology1.11405900
98MP0003279_aneurysm1.11130774
99MP0008438_abnormal_cutaneous_collagen1.08857383
100MP0004084_abnormal_cardiac_muscle1.08002089
101MP0002938_white_spotting1.07314504
102MP0003693_abnormal_embryo_hatching1.06695750
103MP0008775_abnormal_heart_ventricle1.06048096
104MP0003567_abnormal_fetal_cardiomyocyte1.05980091
105MP0002933_joint_inflammation1.02970781
106MP0003221_abnormal_cardiomyocyte_apopto1.02565022
107MP0003787_abnormal_imprinting1.02525490
108MP0005275_abnormal_skin_tensile1.02213341
109MP0001853_heart_inflammation1.01786486
110MP0003868_abnormal_feces_composition0.99899819
111MP0003786_premature_aging0.99726991
112MP0001286_abnormal_eye_development0.99455720
113MP0001929_abnormal_gametogenesis0.99269593
114MP0003111_abnormal_nucleus_morphology0.97427928
115MP0002405_respiratory_system_inflammati0.97207322
116MP0003186_abnormal_redox_activity0.96454671
117MP0001186_pigmentation_phenotype0.96405839
118MP0003122_maternal_imprinting0.95626070
119MP0003077_abnormal_cell_cycle0.95590349
120MP0004142_abnormal_muscle_tone0.95442200
121MP0000751_myopathy0.95138576
122MP0003252_abnormal_bile_duct0.95081245
123MP0001764_abnormal_homeostasis0.94674535
124MP0000566_synostosis0.94380050
125MP0003011_delayed_dark_adaptation0.93658203
126MP0002102_abnormal_ear_morphology0.92726045
127MP0000371_diluted_coat_color0.92622856
128MP0003828_pulmonary_edema0.92405243
129MP0003866_abnormal_defecation0.91781427
130MP0003195_calcinosis0.90073452
131MP0002127_abnormal_cardiovascular_syste0.89449461
132MP0003172_abnormal_lysosome_physiology0.89432624
133MP0000049_abnormal_middle_ear0.88716031
134MP0002751_abnormal_autonomic_nervous0.88618467
135MP0000653_abnormal_sex_gland0.88607567
136MP0002928_abnormal_bile_duct0.88551616
137MP0001324_abnormal_eye_pigmentation0.88499038
138MP0005171_absent_coat_pigmentation0.88407038
139MP0004134_abnormal_chest_morphology0.84440018
140MP0005395_other_phenotype0.84180715
141MP0000428_abnormal_craniofacial_morphol0.84065185
142MP0003698_abnormal_male_reproductive0.84045346
143MP0010678_abnormal_skin_adnexa0.83402624
144MP0005646_abnormal_pituitary_gland0.82827514
145MP0003880_abnormal_central_pattern0.82669890
146MP0001845_abnormal_inflammatory_respons0.82610189
147MP0005508_abnormal_skeleton_morphology0.82059869
148MP0002277_abnormal_respiratory_mucosa0.81624985
149MP0001145_abnormal_male_reproductive0.81339260
150MP0005386_behavior/neurological_phenoty0.80972588
151MP0004924_abnormal_behavior0.80972588
152MP0000538_abnormal_urinary_bladder0.78232358
153MP0002019_abnormal_tumor_incidence0.77691897
154MP0002109_abnormal_limb_morphology0.77293064
155MP0002876_abnormal_thyroid_physiology0.75952692
156MP0004036_abnormal_muscle_relaxation0.75364715
157MP0010030_abnormal_orbit_morphology0.75327535
158MP0005391_vision/eye_phenotype0.74135374
159MP0000631_abnormal_neuroendocrine_gland0.73373739
160MP0002210_abnormal_sex_determination0.72175254
161MP0002972_abnormal_cardiac_muscle0.71966164
162MP0003879_abnormal_hair_cell0.71753073
163MP0000026_abnormal_inner_ear0.71730770
164MP0003941_abnormal_skin_development0.71390642
165MP0004085_abnormal_heartbeat0.71365117
166MP0005085_abnormal_gallbladder_physiolo0.71270777
167MP0005620_abnormal_muscle_contractility0.70795644
168MP0005451_abnormal_body_composition0.70773423
169MP0000613_abnormal_salivary_gland0.70497367
170MP0002084_abnormal_developmental_patter0.69669802
171MP0000383_abnormal_hair_follicle0.67469155
172MP0009697_abnormal_copulation0.67389270
173MP0001119_abnormal_female_reproductive0.66550916
174MP0008995_early_reproductive_senescence0.65899440
175MP0002998_abnormal_bone_remodeling0.62423606
176MP0003183_abnormal_peptide_metabolism0.60607981
177MP0000470_abnormal_stomach_morphology0.60006557
178MP0000858_altered_metastatic_potential0.58902682
179MP0005379_endocrine/exocrine_gland_phen0.57307728
180MP0002638_abnormal_pupillary_reflex0.57014717

Predicted human phenotypes

RankGene SetZ-score
1Reduced antithrombin III activity (HP:0001976)6.17813211
2Type I transferrin isoform profile (HP:0003642)5.66536644
3Hypothermia (HP:0002045)4.79908199
4Thyroid-stimulating hormone excess (HP:0002925)4.28729481
5Abnormal isoelectric focusing of serum transferrin (HP:0003160)3.99482433
6Abnormal protein N-linked glycosylation (HP:0012347)3.99482433
7Abnormal protein glycosylation (HP:0012346)3.99482433
8Abnormal glycosylation (HP:0012345)3.99482433
9Hypoglycemic seizures (HP:0002173)3.74498457
10Chromosomal breakage induced by crosslinking agents (HP:0003221)3.73860354
11Chromsome breakage (HP:0040012)3.54555904
12Myositis (HP:0100614)3.30066219
13Abnormality of the columella (HP:0009929)3.26742596
14Volvulus (HP:0002580)3.25733152
15Elevated erythrocyte sedimentation rate (HP:0003565)3.16276721
16Absent rod-and cone-mediated responses on ERG (HP:0007688)3.08161557
17Abnormality of the labia minora (HP:0012880)3.04289306
18Facial hemangioma (HP:0000329)2.89755330
19Medial flaring of the eyebrow (HP:0010747)2.86506033
20Aplastic anemia (HP:0001915)2.83296316
21Recurrent abscess formation (HP:0002722)2.82965364
22IgM deficiency (HP:0002850)2.79071993
23Chronic hepatic failure (HP:0100626)2.78333201
24Acute lymphatic leukemia (HP:0006721)2.72274443
25Severe visual impairment (HP:0001141)2.70983976
26Abnormality of the prostate (HP:0008775)2.69899724
27Limb-girdle muscle atrophy (HP:0003797)2.68064377
28Calf muscle hypertrophy (HP:0008981)2.67965241
29Panhypogammaglobulinemia (HP:0003139)2.67096852
30Reticulocytopenia (HP:0001896)2.65534884
31Recurrent cutaneous fungal infections (HP:0011370)2.65185764
32Chronic mucocutaneous candidiasis (HP:0002728)2.65185764
33Chronic otitis media (HP:0000389)2.65104099
34Symptomatic seizures (HP:0011145)2.65047636
35Meningitis (HP:0001287)2.61465875
36Acute myeloid leukemia (HP:0004808)2.57989462
37Thrombocytosis (HP:0001894)2.57833211
38Neoplasm of the oral cavity (HP:0100649)2.56017009
39Gait imbalance (HP:0002141)2.52083175
40Clubbing of toes (HP:0100760)2.49398892
41Congenital primary aphakia (HP:0007707)2.49259278
42Abnormal number of erythroid precursors (HP:0012131)2.49099082
43Agammaglobulinemia (HP:0004432)2.49011787
44Microvesicular hepatic steatosis (HP:0001414)2.48617808
45Pancreatic cysts (HP:0001737)2.48597119
46Retrobulbar optic neuritis (HP:0100654)2.46622623
47Optic neuritis (HP:0100653)2.46622623
48Hypoplastic labia majora (HP:0000059)2.46288101
49Prolonged bleeding time (HP:0003010)2.45713223
50Abnormal delayed hypersensitivity skin test (HP:0002963)2.44718020
51Stomatitis (HP:0010280)2.42750386
52Oligodactyly (hands) (HP:0001180)2.40071090
53Rimmed vacuoles (HP:0003805)2.39859828
54Aplasia/Hypoplasia of the tibia (HP:0005772)2.36694971
55Abnormality of the preputium (HP:0100587)2.34483516
56Aplasia/Hypoplasia of the uvula (HP:0010293)2.34186627
57B lymphocytopenia (HP:0010976)2.33267594
58Abnormality of B cell number (HP:0010975)2.33267594
59Abnormality of the labia majora (HP:0012881)2.32285136
60Type 2 muscle fiber atrophy (HP:0003554)2.31930830
61Congenital sensorineural hearing impairment (HP:0008527)2.31002401
62Type II lissencephaly (HP:0007260)2.28941055
63Muscle hypertrophy of the lower extremities (HP:0008968)2.27674089
64Recurrent bacterial skin infections (HP:0005406)2.26605848
65Short tibia (HP:0005736)2.26508058
66Abnormality of cells of the erythroid lineage (HP:0012130)2.26223090
67Fair hair (HP:0002286)2.24932335
68Genital tract atresia (HP:0001827)2.24661958
69Meckel diverticulum (HP:0002245)2.23882431
70Obstructive lung disease (HP:0006536)2.23366036
71Chronic obstructive pulmonary disease (HP:0006510)2.23366036
72Abnormality of the musculature of the pelvis (HP:0001469)2.20274665
73Abnormality of the hip-girdle musculature (HP:0001445)2.20274665
74Abnormality of DNA repair (HP:0003254)2.16871773
75Recurrent fungal infections (HP:0002841)2.16175411
76Orchitis (HP:0100796)2.16103038
77Nonprogressive disorder (HP:0003680)2.14584157
78Abnormality of chromosome stability (HP:0003220)2.13917551
79Abnormality of the calf musculature (HP:0001430)2.13713291
80Abnormality of the ileum (HP:0001549)2.13404371
81Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.13357593
82True hermaphroditism (HP:0010459)2.13337507
83Aplasia/Hypoplasia of the tongue (HP:0010295)2.12132301
84Flat occiput (HP:0005469)2.11762244
85Petechiae (HP:0000967)2.11326050
86Gonadotropin excess (HP:0000837)2.09872911
87Nephrogenic diabetes insipidus (HP:0009806)2.09514561
88Recurrent viral infections (HP:0004429)2.07709021
89Vaginal atresia (HP:0000148)2.07106396
90Abnormal rod and cone electroretinograms (HP:0008323)2.06065697
91Myelodysplasia (HP:0002863)2.04808813
92Abnormality of T cell physiology (HP:0011840)2.03355988
93Recurrent skin infections (HP:0001581)2.02918366
94Astigmatism (HP:0000483)2.01901985
95Muscle fiber atrophy (HP:0100295)2.01091533
96Abnormality of the renal collecting system (HP:0004742)2.00667473
97Albinism (HP:0001022)1.99736244
98Renal cortical cysts (HP:0000803)1.99730758
99Shoulder girdle muscle weakness (HP:0003547)1.99086715
100Delayed gross motor development (HP:0002194)1.98944872
101Limb-girdle muscle weakness (HP:0003325)1.98861620
102Pallor (HP:0000980)1.98064963
103Mediastinal lymphadenopathy (HP:0100721)1.97500819
104Abnormality of the intrinsic pathway (HP:0010989)1.97114639
105Attenuation of retinal blood vessels (HP:0007843)1.97001228
106Prostate neoplasm (HP:0100787)1.96596177
107Long clavicles (HP:0000890)1.95780446
108Vascular tortuosity (HP:0004948)1.95213400
109Colon cancer (HP:0003003)1.94703780
110Abnormality of the fingertips (HP:0001211)1.94144538
111Abnormality of the pons (HP:0007361)1.93308220
112Vasculitis (HP:0002633)1.91960226
113Ocular albinism (HP:0001107)1.91376682
114Hypoproteinemia (HP:0003075)1.91189711
115Small hand (HP:0200055)1.90798449
116Choroideremia (HP:0001139)1.89211715
117Patchy hypopigmentation of hair (HP:0011365)1.89171636
118Abnormality of the renal cortex (HP:0011035)1.88522986
119Hypoplasia of the pons (HP:0012110)1.88216796
120Abnormality of the heme biosynthetic pathway (HP:0010472)1.87694382
121IgG deficiency (HP:0004315)1.87386185
122Keratoconus (HP:0000563)1.87148009
123Increased corneal curvature (HP:0100692)1.87148009
124Recurrent bronchitis (HP:0002837)1.86915267
125Poor coordination (HP:0002370)1.86720032
126Abnormal spermatogenesis (HP:0008669)1.86401068
127Lymphoma (HP:0002665)1.85323155
128Granulocytopenia (HP:0001913)1.85215309
129Duplicated collecting system (HP:0000081)1.84595759
130Encephalitis (HP:0002383)1.83545767
131Epistaxis (HP:0000421)1.82602018
132Broad face (HP:0000283)1.82328092
133Ectopic kidney (HP:0000086)1.82313424
134White forelock (HP:0002211)1.80676472
135Neoplasm of the heart (HP:0100544)1.80512815
136Microcytic anemia (HP:0001935)1.79551000
137Pendular nystagmus (HP:0012043)1.79321413
138Bone marrow hypocellularity (HP:0005528)1.78792700
139Abnormality of the metopic suture (HP:0005556)1.78530298
140Ependymoma (HP:0002888)1.78320699
141Long nose (HP:0003189)1.77965928
142Ankle contracture (HP:0006466)1.77413830
143Eosinophilia (HP:0001880)1.77290912
144Abnormality of the renal medulla (HP:0100957)1.76314070
145Glioma (HP:0009733)1.76068672
146Molar tooth sign on MRI (HP:0002419)1.75982027
147Abnormality of midbrain morphology (HP:0002418)1.75982027
148Arterial tortuosity (HP:0005116)1.75931882
149Congenital, generalized hypertrichosis (HP:0004540)1.75873612
150Pancytopenia (HP:0001876)1.75582435
151Broad-based gait (HP:0002136)1.75445544
152Capillary hemangiomas (HP:0005306)1.75231843
153Medulloblastoma (HP:0002885)1.74989229
154Pancreatic fibrosis (HP:0100732)1.74697685
155Chronic diarrhea (HP:0002028)1.74547646
156Azoospermia (HP:0000027)1.74322017
157Recurrent pneumonia (HP:0006532)1.73360573
158Blue irides (HP:0000635)1.72449727
159Large for gestational age (HP:0001520)1.71457022
160Birth length less than 3rd percentile (HP:0003561)1.70811350
161Lymphopenia (HP:0001888)1.70750389
1623-Methylglutaconic aciduria (HP:0003535)1.70625053
163Congenital stationary night blindness (HP:0007642)1.69473585
164Prominent metopic ridge (HP:0005487)1.68415424
165Postaxial hand polydactyly (HP:0001162)1.67879415
166Biliary tract neoplasm (HP:0100574)1.67698710
167Abnormal biliary tract morphology (HP:0012440)1.67485592
168Nephronophthisis (HP:0000090)1.67047347
169Aqueductal stenosis (HP:0002410)1.66080745
170Aplasia/Hypoplasia of the fovea (HP:0008060)1.63616194
171Hypoplasia of the fovea (HP:0007750)1.63616194
172Labial hypoplasia (HP:0000066)1.62459244
173Abnormality of macular pigmentation (HP:0008002)1.60364012
174Cerebellar dysplasia (HP:0007033)1.56221237
175Aplasia/Hypoplasia of the lens (HP:0008063)1.54608795
176Lissencephaly (HP:0001339)1.54108093
177Stomach cancer (HP:0012126)1.53910624
178Protruding tongue (HP:0010808)1.53561308
179Astrocytoma (HP:0009592)1.53361043
180Abnormality of the astrocytes (HP:0100707)1.53361043
181Abnormal biliary tract physiology (HP:0012439)1.53070901
182Bile duct proliferation (HP:0001408)1.53070901
183Aortic aneurysm (HP:0004942)1.52534014
184Pelvic girdle muscle weakness (HP:0003749)1.52064514
185Abnormality of the ischium (HP:0003174)1.52051658
186Anterior segment dysgenesis (HP:0007700)1.51593318

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TNIK9.16901142
2MKNK23.93135373
3FRK3.47707831
4NLK3.47347950
5PNCK3.12577064
6EIF2AK33.03620585
7STK162.76423034
8MKNK12.53178249
9MAP4K22.50097936
10KIT2.48936240
11WNK32.30972019
12MUSK2.30149732
13TEC2.15065670
14MAP3K42.03392519
15ERBB31.97935465
16EIF2AK21.94467055
17TXK1.92758405
18TRIM281.90337985
19IRAK41.80313657
20CAMK1G1.78022383
21MARK11.74825592
22FES1.70422276
23CASK1.70097124
24FGFR21.65714356
25IRAK31.63393954
26MAP2K71.63040609
27CAMKK21.60676880
28STK391.58672763
29STK38L1.54186960
30BCR1.54167341
31CDK191.37398703
32OBSCN1.35451168
33SRPK11.34925094
34MAP4K11.34040047
35FLT31.34022219
36PINK11.32934262
37MST41.29747703
38NME21.25968460
39LATS11.25092300
40YES11.21832340
41ZAK1.21729444
42BTK1.21116901
43PLK21.20322574
44TSSK61.18587225
45RPS6KA41.18283713
46CSF1R1.18054635
47VRK11.16947491
48TLK11.16535877
49CLK11.11725562
50EPHA41.09186633
51PIK3CG1.09153564
52KSR11.07888353
53CAMK1D1.06534718
54ADRBK21.05683005
55CAMK11.05124808
56JAK31.04050419
57IKBKE1.03587080
58WEE11.03351503
59MET1.02851207
60PIM21.01599345
61ABL20.99646463
62ACVR1B0.97986544
63MYLK0.97542764
64ERBB40.95506001
65IKBKB0.92892230
66EIF2AK10.92515360
67BRD40.90577264
68FER0.90500283
69PHKG10.89575034
70PHKG20.89575034
71MAP3K60.86422896
72PRKCE0.86411926
73MAP3K140.85797973
74PLK30.83618157
75NEK10.83056262
76BRSK20.82693950
77SYK0.79712863
78ZAP700.79136092
79DYRK30.78624096
80ADRBK10.76506838
81PRPF4B0.75020627
82LYN0.74327653
83TYK20.72500456
84CDK70.72290751
85CDC70.72166679
86LCK0.71140730
87TGFBR20.70467565
88BLK0.70374063
89NTRK30.69320838
90TNK20.68762042
91ATR0.68207879
92MAP3K130.67969821
93TAOK30.67916237
94SIK30.66738415
95BMPR1B0.66597105
96NEK90.66558315
97WNK40.66558122
98MAP3K90.65961376
99NEK60.65857462
100NTRK20.64479203
101TAF10.63478584
102SGK20.63114272
103PDGFRA0.61907343
104MAP3K120.61033053
105PLK40.60963380
106EPHB20.60183047
107EPHB10.59179295
108PAK30.58061117
109TTK0.57083088
110ROCK10.56797918
111MELK0.55915516
112MARK30.55481447
113TIE10.55206830
114CDK30.54674835
115PBK0.54240138
116PTK2B0.53341115
117HCK0.52988869
118MAPK130.52585032
119MATK0.52584471
120DYRK20.52548584
121RPS6KA50.51881871
122PIM10.51323428
123TBK10.47899221
124MAPK40.47451111
125CSNK1G20.47208559
126PRKD20.46793487
127JAK10.45524771
128CDK80.44525241
129CAMK2A0.44000177
130STK30.43477296
131HIPK20.43324961
132CAMK40.43275212
133PRKACB0.42751137
134MAPKAPK50.42716498
135PRKCG0.42681786
136RIPK40.41895588
137PRKAA20.39987081
138CDK40.39832546
139NUAK10.38914780
140CHUK0.37196445
141TGFBR10.36289596
142GRK10.36211804
143EPHA30.36025562
144PRKG20.34978914
145IRAK10.33701247
146CHEK20.33474333
147STK40.33288094
148SIK20.32623182
149TRPM70.31877625
150ITK0.29471826
151ATM0.28333049
152ABL10.27431925
153CSNK1G10.26581902
154CCNB10.25388659
155IRAK20.25187967
156CSNK1A1L0.24606050
157KDR0.23438325
158GRK70.22091515
159CSK0.21876773
160INSRR0.20851842

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030303.62322468
2Homologous recombination_Homo sapiens_hsa034402.71393856
3Primary immunodeficiency_Homo sapiens_hsa053402.50243079
4Mismatch repair_Homo sapiens_hsa034302.42627789
5Fanconi anemia pathway_Homo sapiens_hsa034602.40198020
6Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.29960217
7Propanoate metabolism_Homo sapiens_hsa006402.27772389
8Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.25793270
9Selenocompound metabolism_Homo sapiens_hsa004502.24318445
10Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.21173868
11Ribosome_Homo sapiens_hsa030102.20147345
12Non-homologous end-joining_Homo sapiens_hsa034502.08875407
13Base excision repair_Homo sapiens_hsa034102.07186461
14Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.85279694
15NF-kappa B signaling pathway_Homo sapiens_hsa040641.83131448
16Proteasome_Homo sapiens_hsa030501.80720577
17Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.79487936
18RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.75594698
19Linoleic acid metabolism_Homo sapiens_hsa005911.72405771
20Hematopoietic cell lineage_Homo sapiens_hsa046401.72339259
21Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.70976603
22Measles_Homo sapiens_hsa051621.67958113
23Herpes simplex infection_Homo sapiens_hsa051681.65582222
24Intestinal immune network for IgA production_Homo sapiens_hsa046721.64214516
25Butanoate metabolism_Homo sapiens_hsa006501.63866409
26Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.58872996
27Nucleotide excision repair_Homo sapiens_hsa034201.56822085
28Pyrimidine metabolism_Homo sapiens_hsa002401.56377436
29Protein export_Homo sapiens_hsa030601.55816925
30RNA polymerase_Homo sapiens_hsa030201.54223422
31Other glycan degradation_Homo sapiens_hsa005111.53772685
32Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.51613161
33Pyruvate metabolism_Homo sapiens_hsa006201.50198281
34Thyroid cancer_Homo sapiens_hsa052161.49766560
35Caffeine metabolism_Homo sapiens_hsa002321.42052379
36Transcriptional misregulation in cancer_Homo sapiens_hsa052021.41777815
37Spliceosome_Homo sapiens_hsa030401.40432765
38Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.36426163
39alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.33148399
40Allograft rejection_Homo sapiens_hsa053301.32682078
41Leishmaniasis_Homo sapiens_hsa051401.31774262
42RNA degradation_Homo sapiens_hsa030181.30939987
43Basal transcription factors_Homo sapiens_hsa030221.28593436
44Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.26930812
45Jak-STAT signaling pathway_Homo sapiens_hsa046301.26585830
46Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.25397262
47NOD-like receptor signaling pathway_Homo sapiens_hsa046211.23460451
48N-Glycan biosynthesis_Homo sapiens_hsa005101.23092293
49Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.22766495
50Parkinsons disease_Homo sapiens_hsa050121.21208317
51Fatty acid elongation_Homo sapiens_hsa000621.20839176
52Steroid biosynthesis_Homo sapiens_hsa001001.20683979
53Oxidative phosphorylation_Homo sapiens_hsa001901.20026746
54Acute myeloid leukemia_Homo sapiens_hsa052211.18205115
55Malaria_Homo sapiens_hsa051441.17546603
56B cell receptor signaling pathway_Homo sapiens_hsa046621.17119840
57Cell cycle_Homo sapiens_hsa041101.16996470
58TGF-beta signaling pathway_Homo sapiens_hsa043501.15045480
59Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.14368996
60Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.09286075
61p53 signaling pathway_Homo sapiens_hsa041151.08440811
62Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.07862290
63Toll-like receptor signaling pathway_Homo sapiens_hsa046201.06835403
64Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.06565094
65Autoimmune thyroid disease_Homo sapiens_hsa053201.04736546
66Sphingolipid metabolism_Homo sapiens_hsa006001.04437232
67Asthma_Homo sapiens_hsa053101.03659253
68Purine metabolism_Homo sapiens_hsa002301.02918751
69Hedgehog signaling pathway_Homo sapiens_hsa043401.02432115
70Nicotine addiction_Homo sapiens_hsa050331.01083998
71Ether lipid metabolism_Homo sapiens_hsa005650.99879303
72Huntingtons disease_Homo sapiens_hsa050160.99224371
73Osteoclast differentiation_Homo sapiens_hsa043800.92909988
74Influenza A_Homo sapiens_hsa051640.91033064
75ECM-receptor interaction_Homo sapiens_hsa045120.90591399
76Lysine degradation_Homo sapiens_hsa003100.89338815
77Alzheimers disease_Homo sapiens_hsa050100.83144706
78Graft-versus-host disease_Homo sapiens_hsa053320.82622350
79Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.82260269
80Cardiac muscle contraction_Homo sapiens_hsa042600.82139080
81Hepatitis B_Homo sapiens_hsa051610.81909859
82Systemic lupus erythematosus_Homo sapiens_hsa053220.81112533
83Dorso-ventral axis formation_Homo sapiens_hsa043200.81109142
84Oocyte meiosis_Homo sapiens_hsa041140.80689266
85Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.80120641
86Fatty acid degradation_Homo sapiens_hsa000710.78859445
87Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.78102647
88Basal cell carcinoma_Homo sapiens_hsa052170.77251433
89One carbon pool by folate_Homo sapiens_hsa006700.76795240
90Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.75719096
91Phototransduction_Homo sapiens_hsa047440.75619635
92T cell receptor signaling pathway_Homo sapiens_hsa046600.75054691
93Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.73823107
94Cocaine addiction_Homo sapiens_hsa050300.73708914
95Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.73673741
96Dilated cardiomyopathy_Homo sapiens_hsa054140.72608504
97Cysteine and methionine metabolism_Homo sapiens_hsa002700.72222700
98Antigen processing and presentation_Homo sapiens_hsa046120.71982109
99Axon guidance_Homo sapiens_hsa043600.70746165
100Hippo signaling pathway_Homo sapiens_hsa043900.69545662
101Taste transduction_Homo sapiens_hsa047420.67967515
102Primary bile acid biosynthesis_Homo sapiens_hsa001200.67592653
103SNARE interactions in vesicular transport_Homo sapiens_hsa041300.67238336
104Epstein-Barr virus infection_Homo sapiens_hsa051690.65747607
105Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.63633881
106Melanogenesis_Homo sapiens_hsa049160.63520841
107TNF signaling pathway_Homo sapiens_hsa046680.63282302
108Tuberculosis_Homo sapiens_hsa051520.62679210
109Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.61426595
110Arachidonic acid metabolism_Homo sapiens_hsa005900.60133404
111Apoptosis_Homo sapiens_hsa042100.59665145
112Nitrogen metabolism_Homo sapiens_hsa009100.57652352
113Ovarian steroidogenesis_Homo sapiens_hsa049130.56749450
114Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.56251126
115Notch signaling pathway_Homo sapiens_hsa043300.55513486
116Toxoplasmosis_Homo sapiens_hsa051450.55056804
117Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.54548357
118Circadian rhythm_Homo sapiens_hsa047100.54174532
119Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.54134604
120FoxO signaling pathway_Homo sapiens_hsa040680.53178423
121Pertussis_Homo sapiens_hsa051330.52647341
122Colorectal cancer_Homo sapiens_hsa052100.52423971
123Maturity onset diabetes of the young_Homo sapiens_hsa049500.52332886
124RNA transport_Homo sapiens_hsa030130.52189961
125Adherens junction_Homo sapiens_hsa045200.51289752
126Glycosaminoglycan degradation_Homo sapiens_hsa005310.51289128
127Long-term depression_Homo sapiens_hsa047300.50955525
128PI3K-Akt signaling pathway_Homo sapiens_hsa041510.50482980
129HTLV-I infection_Homo sapiens_hsa051660.49217529
130Small cell lung cancer_Homo sapiens_hsa052220.49182145
131Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.49081404
132Shigellosis_Homo sapiens_hsa051310.48917804
133GABAergic synapse_Homo sapiens_hsa047270.47234249
134Regulation of autophagy_Homo sapiens_hsa041400.47097821
135Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.46941114
136Tryptophan metabolism_Homo sapiens_hsa003800.46735977
137Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.46730168
138Retinol metabolism_Homo sapiens_hsa008300.46699522
139Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.46588086
140Hepatitis C_Homo sapiens_hsa051600.45997517
141Vascular smooth muscle contraction_Homo sapiens_hsa042700.45583204
142Focal adhesion_Homo sapiens_hsa045100.44781372
143Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.44504990
144Renin secretion_Homo sapiens_hsa049240.44461653
145Morphine addiction_Homo sapiens_hsa050320.44229952
146Chemical carcinogenesis_Homo sapiens_hsa052040.44194731
147Viral carcinogenesis_Homo sapiens_hsa052030.44105915
148Vitamin digestion and absorption_Homo sapiens_hsa049770.43632579
149Sulfur relay system_Homo sapiens_hsa041220.42761804
150Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.42428098
151Amphetamine addiction_Homo sapiens_hsa050310.42107915
152Chemokine signaling pathway_Homo sapiens_hsa040620.41752013
153Folate biosynthesis_Homo sapiens_hsa007900.41674052
154Circadian entrainment_Homo sapiens_hsa047130.41586849
155mRNA surveillance pathway_Homo sapiens_hsa030150.41341491
156Wnt signaling pathway_Homo sapiens_hsa043100.40836247
157Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.40608780
158Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.40603679
159Insulin secretion_Homo sapiens_hsa049110.40549375
160Glutamatergic synapse_Homo sapiens_hsa047240.39768711
161Salmonella infection_Homo sapiens_hsa051320.39716103
162cGMP-PKG signaling pathway_Homo sapiens_hsa040220.39630202
163Pathways in cancer_Homo sapiens_hsa052000.39515586
164Rheumatoid arthritis_Homo sapiens_hsa053230.39250801
165African trypanosomiasis_Homo sapiens_hsa051430.35920485
166ABC transporters_Homo sapiens_hsa020100.35618173
167Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.33293585
168Platelet activation_Homo sapiens_hsa046110.32065898
169Legionellosis_Homo sapiens_hsa051340.30160270
170Prostate cancer_Homo sapiens_hsa052150.29990769

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