VHL

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: Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. The protein encoded by this gene is a component of the protein complex that includes elongin B, elongin C, and cullin-2, and possesses ubiquitin ligase E3 activity. This protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. RNA polymerase II subunit POLR2G/RPB7 is also reported to be a target of this protein. Alternatively spliced transcript variants encoding distinct isoforms have been observed. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1histone H3-K4 trimethylation (GO:0080182)5.05254116
2nuclear pore complex assembly (GO:0051292)4.95620454
3positive regulation of synapse maturation (GO:0090129)4.76052309
4nuclear pore organization (GO:0006999)4.53394499
5histone H3-K4 methylation (GO:0051568)4.51315570
6cytoplasmic mRNA processing body assembly (GO:0033962)4.48945519
7dosage compensation (GO:0007549)4.45275770
8peptidyl-threonine dephosphorylation (GO:0035970)4.26377688
9lung-associated mesenchyme development (GO:0060484)4.20147954
10regulation of RNA export from nucleus (GO:0046831)4.14063360
11regulation of histone H3-K27 methylation (GO:0061085)4.06063116
12NIK/NF-kappaB signaling (GO:0038061)3.99715360
13positive regulation of gamma-delta T cell activation (GO:0046645)3.92403808
14histone H3-K36 demethylation (GO:0070544)3.87737714
15mRNA stabilization (GO:0048255)3.80640314
16RNA stabilization (GO:0043489)3.80640314
17regulation of histone H3-K4 methylation (GO:0051569)3.77958703
18monoubiquitinated protein deubiquitination (GO:0035520)3.73604528
19regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.72782530
20negative regulation of inclusion body assembly (GO:0090084)3.70581346
21positive regulation by host of viral transcription (GO:0043923)3.67650125
22positive regulation of cell size (GO:0045793)3.66899643
23purine nucleobase biosynthetic process (GO:0009113)3.66135960
24histone lysine methylation (GO:0034968)3.63803561
253-UTR-mediated mRNA stabilization (GO:0070935)3.62337240
26fusion of sperm to egg plasma membrane (GO:0007342)3.59746323
27mitotic sister chromatid cohesion (GO:0007064)3.59536780
28phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)3.59488734
29CDP-diacylglycerol metabolic process (GO:0046341)3.54255411
30DNA topological change (GO:0006265)3.54226981
31negative regulation of histone methylation (GO:0031061)3.53925756
32histone methylation (GO:0016571)3.52680277
33regulation of synaptic vesicle exocytosis (GO:2000300)3.49289632
34peptidyl-lysine trimethylation (GO:0018023)3.46569851
35pore complex assembly (GO:0046931)3.46346977
36peptidyl-arginine N-methylation (GO:0035246)3.45629552
37peptidyl-arginine methylation (GO:0018216)3.45629552
38synaptic vesicle exocytosis (GO:0016079)3.43134891
39cell wall macromolecule catabolic process (GO:0016998)3.40116092
40cell wall macromolecule metabolic process (GO:0044036)3.40116092
41regulation of synapse structural plasticity (GO:0051823)3.39812075
42histone H3-K9 modification (GO:0061647)3.38489345
43regulation of chromatin binding (GO:0035561)3.38357621
44histone H3-K9 methylation (GO:0051567)3.37719911
45prepulse inhibition (GO:0060134)3.36841148
46regulation of inclusion body assembly (GO:0090083)3.31270117
47peptidyl-arginine omega-N-methylation (GO:0035247)3.30185300
48vitamin transmembrane transport (GO:0035461)3.30018908
49regulation of translational termination (GO:0006449)3.27134287
50cilium or flagellum-dependent cell motility (GO:0001539)3.26231355
51acrosome assembly (GO:0001675)3.19063505
52DNA unwinding involved in DNA replication (GO:0006268)3.16217023
53regulation of nucleobase-containing compound transport (GO:0032239)3.14327033
54sperm motility (GO:0030317)3.13870264
55exploration behavior (GO:0035640)3.09731360
56spermatid development (GO:0007286)3.09474881
57piRNA metabolic process (GO:0034587)3.08240946
58regulation of B cell receptor signaling pathway (GO:0050855)3.06120726
59negative regulation of erythrocyte differentiation (GO:0045647)3.04382054
60histone H4-K16 acetylation (GO:0043984)3.03846811
61positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)3.03615438
62locomotory exploration behavior (GO:0035641)3.03312983
63epithelial cilium movement (GO:0003351)2.99738656
64regulation of histone methylation (GO:0031060)2.99641298
65regulation of synaptic vesicle transport (GO:1902803)2.99321457
66histone lysine demethylation (GO:0070076)2.96595825
67ribosome assembly (GO:0042255)2.96564630
68positive regulation of transcription from RNA polymerase III promoter (GO:0045945)2.96353668
69mRNA splice site selection (GO:0006376)2.95512365
70guanosine-containing compound biosynthetic process (GO:1901070)2.94525389
71spliceosomal tri-snRNP complex assembly (GO:0000244)2.93126592
72B cell receptor signaling pathway (GO:0050853)2.91902768
73definitive hemopoiesis (GO:0060216)2.91229160
74peptidyl-lysine methylation (GO:0018022)2.89837085
75histone demethylation (GO:0016577)2.87642496
76negative thymic T cell selection (GO:0045060)2.86831007
77synaptonemal complex organization (GO:0070193)2.86574048
78response to muramyl dipeptide (GO:0032495)2.85524797
79intracellular estrogen receptor signaling pathway (GO:0030520)2.83875159
80negative T cell selection (GO:0043383)2.82897335
81interferon-gamma secretion (GO:0072643)2.82749256
82regulation of mRNA catabolic process (GO:0061013)2.82359422
83negative regulation of mRNA splicing, via spliceosome (GO:0048025)2.82166406
84DNA duplex unwinding (GO:0032508)2.80677877
85regulation of transforming growth factor beta2 production (GO:0032909)2.80066031
86regulation of NFAT protein import into nucleus (GO:0051532)2.79053582
87negative regulation of gene expression, epigenetic (GO:0045814)2.78777132
88plasma membrane fusion (GO:0045026)2.78449650
89positive regulation of type I interferon-mediated signaling pathway (GO:0060340)2.77683935
90negative regulation of histone modification (GO:0031057)2.77355097
91ribosome biogenesis (GO:0042254)2.76904964
92regulation of mRNA stability (GO:0043488)2.76727700
93synaptonemal complex assembly (GO:0007130)2.76671672
94regulation of short-term neuronal synaptic plasticity (GO:0048172)2.76597181
95DNA geometric change (GO:0032392)2.76504373
96regulation of translational fidelity (GO:0006450)2.75829345
97positive regulation of CREB transcription factor activity (GO:0032793)2.75668256
98CDP-diacylglycerol biosynthetic process (GO:0016024)2.75443871
99axonemal dynein complex assembly (GO:0070286)2.75105283
100positive regulation of T cell cytokine production (GO:0002726)2.74691772
101positive regulation of granulocyte differentiation (GO:0030854)2.74680861
102GMP metabolic process (GO:0046037)2.72456009
103meiosis I (GO:0007127)2.72138266
104layer formation in cerebral cortex (GO:0021819)2.71195106
105positive T cell selection (GO:0043368)2.70890866
106positive regulation of cell cycle checkpoint (GO:1901978)2.70670714
107peptidyl-threonine phosphorylation (GO:0018107)2.69808154
108poly(A)+ mRNA export from nucleus (GO:0016973)2.68622905
109synaptic vesicle maturation (GO:0016188)2.67680289
110regulation of RNA stability (GO:0043487)2.67653410
111regulation of gamma-delta T cell activation (GO:0046643)2.66714428
112homocysteine metabolic process (GO:0050667)2.66594282
113regulation of synapse maturation (GO:0090128)2.66144931
114pre-miRNA processing (GO:0031054)2.65911530
115embryonic process involved in female pregnancy (GO:0060136)2.64323882
116DNA methylation involved in gamete generation (GO:0043046)2.64058752
117nucleobase biosynthetic process (GO:0046112)2.63564302
118protein alkylation (GO:0008213)2.63368262
119protein methylation (GO:0006479)2.63368262
120histone H4-K8 acetylation (GO:0043982)2.63110541
121histone H4-K5 acetylation (GO:0043981)2.63110541
122histone deubiquitination (GO:0016578)2.62889521
123neuron recognition (GO:0008038)2.62790273
124regulation of gamma-delta T cell differentiation (GO:0045586)2.62442206
125autophagic vacuole assembly (GO:0000045)2.62413374
126spindle assembly involved in mitosis (GO:0090307)2.62241585
127acrosome reaction (GO:0007340)2.62195915
128alternative mRNA splicing, via spliceosome (GO:0000380)2.61523655
129cell migration in hindbrain (GO:0021535)2.61160980
130DNA replication initiation (GO:0006270)2.60839794
131mitochondrial fragmentation involved in apoptotic process (GO:0043653)2.60803184
132male meiosis I (GO:0007141)2.60694217
133histone H2B ubiquitination (GO:0033523)2.60194075
134T cell selection (GO:0045058)2.59409787
135sodium ion export (GO:0071436)2.59372077
136negative regulation of histone acetylation (GO:0035067)2.58431509
137cellular response to arsenic-containing substance (GO:0071243)2.57963008
138protein demethylation (GO:0006482)2.57551644
139protein dealkylation (GO:0008214)2.57551644
140hepatocyte apoptotic process (GO:0097284)2.57517752
141negative regulation of mRNA metabolic process (GO:1903312)2.56347802
142positive regulation of DNA-templated transcription, initiation (GO:2000144)2.55733935
143negative regulation of chromatin modification (GO:1903309)2.55265982
144thymic T cell selection (GO:0045061)2.55227376
145histone arginine methylation (GO:0034969)2.54393023
146protein K48-linked deubiquitination (GO:0071108)2.54219853
147regulation of cilium movement (GO:0003352)2.53849950
148neuron cell-cell adhesion (GO:0007158)2.53782687
149negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.53711186
150negative regulation of cell killing (GO:0031342)2.53711186
151polyamine biosynthetic process (GO:0006596)2.53262630
152negative regulation of fibroblast apoptotic process (GO:2000270)2.52677322
153C4-dicarboxylate transport (GO:0015740)2.52547827
154negative regulation of JAK-STAT cascade (GO:0046426)2.52459996
155polyamine metabolic process (GO:0006595)2.51885501
156cellular protein complex localization (GO:0034629)2.51062787
157serine transport (GO:0032329)2.50700185
158positive regulation of autophagy (GO:0010508)2.50612044
159nucleosome disassembly (GO:0006337)2.49392521
160protein-DNA complex disassembly (GO:0032986)2.49392521
161peptidyl-threonine modification (GO:0018210)2.49104196
162dendritic spine morphogenesis (GO:0060997)2.48153169
163regulation of protein kinase C signaling (GO:0090036)2.46602121
164positive regulation of histone H3-K4 methylation (GO:0051571)2.46316912
165regulation of histone H3-K9 methylation (GO:0051570)2.45459050
166epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.43669174
167positive regulation of receptor biosynthetic process (GO:0010870)2.42190694
168positive regulation of mRNA catabolic process (GO:0061014)2.42113465
169natural killer cell differentiation (GO:0001779)2.40818642
170cardiac ventricle formation (GO:0003211)2.40742483
171Peyers patch development (GO:0048541)2.40716303
172seminiferous tubule development (GO:0072520)2.40209649
173negative regulation of macrophage differentiation (GO:0045650)2.39196930
174folic acid transport (GO:0015884)2.39168760
175regulation of microtubule-based movement (GO:0060632)2.38904430
176spermatid nucleus differentiation (GO:0007289)2.37222265
177positive regulation of pseudopodium assembly (GO:0031274)2.37159996
178positive regulation of macroautophagy (GO:0016239)2.36239550
179pyrimidine nucleobase catabolic process (GO:0006208)2.35672704
180positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.35333963
181regulation of translation in response to stress (GO:0043555)2.34438977
182regulation of RIG-I signaling pathway (GO:0039535)2.31922392
183microtubule cytoskeleton organization involved in mitosis (GO:1902850)2.31912607
184blastocyst development (GO:0001824)2.30142512
185positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.29752788
186negative regulation of innate immune response (GO:0045824)2.28621184
187ventricular system development (GO:0021591)2.28266503
188sperm-egg recognition (GO:0035036)2.28043484
189regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.27885516
190L-serine transport (GO:0015825)2.27764771
191spliceosomal snRNP assembly (GO:0000387)2.27118220
192modified amino acid transport (GO:0072337)2.26893392
193microtubule severing (GO:0051013)2.26347664
194cilium movement (GO:0003341)2.25841992

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human7.23347277
2MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse6.82513626
3E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse5.54259414
4TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat5.05581109
5BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse4.21049279
6FOXM1_23109430_ChIP-Seq_U2OS_Human3.79999018
7ZNF263_19887448_ChIP-Seq_K562_Human2.91183240
8VDR_21846776_ChIP-Seq_THP-1_Human2.63827986
9GATA1_22025678_ChIP-Seq_K562_Human2.59913455
10CIITA_25753668_ChIP-Seq_RAJI_Human2.56462522
11SCL_19346495_ChIP-Seq_HPC-7_Human2.50570329
12NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.44172992
13* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse2.42590198
14PKCTHETA_26484144_Chip-Seq_BREAST_Human2.40320558
15KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.37952199
16TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.30849871
17TCF7_22412390_ChIP-Seq_EML_Mouse2.30396320
18TP63_19390658_ChIP-ChIP_HaCaT_Human2.28002213
19MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.26077760
20IGF1R_20145208_ChIP-Seq_DFB_Human2.26009365
21JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.18149320
22RBPJ_22232070_ChIP-Seq_NCS_Mouse2.17463761
23E2F4_17652178_ChIP-ChIP_JURKAT_Human2.16803955
24E2F1_21310950_ChIP-Seq_MCF-7_Human2.14840219
25CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat2.09652792
26ETS1_20019798_ChIP-Seq_JURKAT_Human2.08717495
27CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human2.07350252
28REST_21632747_ChIP-Seq_MESCs_Mouse2.01911544
29NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.97740758
30MAF_26560356_Chip-Seq_TH1_Human1.96001598
31CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.87049699
32STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.85558569
33MYB_26560356_Chip-Seq_TH1_Human1.82280397
34EZH2_22144423_ChIP-Seq_EOC_Human1.77380283
35FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.76808329
36REST_18959480_ChIP-ChIP_MESCs_Mouse1.72697443
37NCOR1_26117541_ChIP-Seq_K562_Human1.72176684
38GABP_17652178_ChIP-ChIP_JURKAT_Human1.69937147
39IKZF1_21737484_ChIP-ChIP_HCT116_Human1.69848975
40RARB_27405468_Chip-Seq_BRAIN_Mouse1.66880791
41UTX_26944678_Chip-Seq_JUKART_Human1.63339229
42CREB1_15753290_ChIP-ChIP_HEK293T_Human1.63288468
43MYB_26560356_Chip-Seq_TH2_Human1.63129940
44E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.61693372
45ELF1_17652178_ChIP-ChIP_JURKAT_Human1.60712578
46SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.57870683
47YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.57841696
48TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.57709842
49KDM2B_26808549_Chip-Seq_JURKAT_Human1.57657856
50TFEB_21752829_ChIP-Seq_HELA_Human1.57379406
51HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.57108913
52SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.56578046
53MAF_26560356_Chip-Seq_TH2_Human1.56208526
54NOTCH1_21737748_ChIP-Seq_TLL_Human1.53164984
55VDR_24763502_ChIP-Seq_THP-1_Human1.52184213
56SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.51251767
57MYC_19079543_ChIP-ChIP_MESCs_Mouse1.49933995
58TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.48754449
59FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.48131637
60POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.47524846
61GATA1_19941826_ChIP-Seq_K562_Human1.45943405
62NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.44184872
63SALL1_21062744_ChIP-ChIP_HESCs_Human1.43124455
64PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.43089774
65* CHD1_26751641_Chip-Seq_LNCaP_Human1.42937099
66CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.42282437
67GABP_19822575_ChIP-Seq_HepG2_Human1.42229212
68BRD4_27068464_Chip-Seq_AML-cells_Mouse1.41932521
69SPI1_23547873_ChIP-Seq_NB4_Human1.41571386
70RUNX_20019798_ChIP-Seq_JUKART_Human1.41404914
71SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.41027012
72FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.41019339
73TDRD3_21172665_ChIP-Seq_MCF-7_Human1.39447105
74TRIM28_19339689_ChIP-ChIP_MESCs_Mouse1.37377336
75RUNX1_22412390_ChIP-Seq_EML_Mouse1.37176279
76SPI1_23127762_ChIP-Seq_K562_Human1.35369865
77STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.34303934
78VDR_23849224_ChIP-Seq_CD4+_Human1.34159074
79ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.33543461
80DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.33006872
81EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.31752497
82* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.30784779
83* XRN2_22483619_ChIP-Seq_HELA_Human1.30420645
84NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.30282924
85KLF4_18555785_ChIP-Seq_MESCs_Mouse1.29281625
86ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.26075720
87CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.26037060
88RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.24936350
89TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.24773302
90MYCN_18555785_ChIP-Seq_MESCs_Mouse1.23094400
91GATA1_26923725_Chip-Seq_HPCs_Mouse1.20701956
92PADI4_21655091_ChIP-ChIP_MCF-7_Human1.19196797
93TET1_21490601_ChIP-Seq_MESCs_Mouse1.17429825
94TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.16752545
95* ERG_20887958_ChIP-Seq_HPC-7_Mouse1.16485951
96FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human1.15856827
97GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.13699696
98STAT6_21828071_ChIP-Seq_BEAS2B_Human1.13367264
99THAP11_20581084_ChIP-Seq_MESCs_Mouse1.12464752
100CTBP2_25329375_ChIP-Seq_LNCAP_Human1.12224042
101SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.11798589
102EGR1_19374776_ChIP-ChIP_THP-1_Human1.11485314
103GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.10987393
104CTCF_18555785_ChIP-Seq_MESCs_Mouse1.10180926
105YY1_21170310_ChIP-Seq_MESCs_Mouse1.09561205
106VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.07740729
107MYB_21317192_ChIP-Seq_ERMYB_Mouse1.06214115
108NANOG_18555785_ChIP-Seq_MESCs_Mouse1.05825130
109ETS1_22383799_ChIP-Seq_G1ME_Mouse1.05612169
110NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.05559101
111MYC_18358816_ChIP-ChIP_MESCs_Mouse1.05206523
112KDM2B_26808549_Chip-Seq_DND41_Human1.04930587
113KDM2B_26808549_Chip-Seq_K562_Human1.04551437
114KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.04090504
115STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.03976015
116FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.01995621
117IRF8_21731497_ChIP-ChIP_J774_Mouse1.01835994
118GATA2_19941826_ChIP-Seq_K562_Human1.01521811
119SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.01369360
120TTF2_22483619_ChIP-Seq_HELA_Human1.01350228
121GATA1_19941827_ChIP-Seq_MEL_Mouse1.01307972
122GATA2_22383799_ChIP-Seq_G1ME_Mouse1.00807535
123TET1_21451524_ChIP-Seq_MESCs_Mouse1.00530507
124MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.00351604
125KDM5A_27292631_Chip-Seq_BREAST_Human0.99898726
126RUNX1_27514584_Chip-Seq_MCF-7_Human0.98968172
127POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.98946741
128MYC_19030024_ChIP-ChIP_MESCs_Mouse0.97827045
129BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.97734543
130ZFX_18555785_ChIP-Seq_MESCs_Mouse0.97444135
131CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.97222021
132CLOCK_20551151_ChIP-Seq_293T_Human0.96720523
133P53_22127205_ChIP-Seq_FIBROBLAST_Human0.95877410
134HOXB4_20404135_ChIP-ChIP_EML_Mouse0.95642870
135MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.95174362
136REST_19997604_ChIP-ChIP_NEURONS_Mouse0.95134774
137CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.94969039
138FOXP3_21729870_ChIP-Seq_TREG_Human0.94864883
139GATA1_22383799_ChIP-Seq_G1ME_Mouse0.94408517
140RUNX1_26923725_Chip-Seq_HPCs_Mouse0.93810678
141SUZ12_27294783_Chip-Seq_ESCs_Mouse0.93576906
142MYC_22102868_ChIP-Seq_BL_Human0.93428432
143SMC4_20622854_ChIP-Seq_HELA_Human0.92956928
144SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.92522470
145ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.92287474
146PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse0.92273390
147EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.92267256
148GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.91652393
149DCP1A_22483619_ChIP-Seq_HELA_Human0.91098992
150GATA3_27048872_Chip-Seq_THYMUS_Human0.89957996
151ZFP281_18757296_ChIP-ChIP_E14_Mouse0.88652991
152* FLI1_21867929_ChIP-Seq_CD8_Mouse0.88426775
153HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human0.87429251
154FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.84886237
155AR_21572438_ChIP-Seq_LNCaP_Human0.84419310
156CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.83746821
157EST1_17652178_ChIP-ChIP_JURKAT_Human0.82898678
158EZH2_27294783_Chip-Seq_ESCs_Mouse0.82674539
159RNF2_27304074_Chip-Seq_ESCs_Mouse0.82081005
160DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.80734144
161MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.80470476
162KLF4_19829295_ChIP-Seq_ESCs_Human0.78909362
163EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse0.78734184
164KDM2B_26808549_Chip-Seq_SUP-B15_Human0.78428920
165TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.77797904
166KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.77458587
167SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.77353414
168SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.77225493
169TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.77065928
170ZFP281_27345836_Chip-Seq_ESCs_Mouse0.76145923
171E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.75756531
172NANOG_21062744_ChIP-ChIP_HESCs_Human0.75754892
173PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.75151622

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity4.47711682
2MP0008057_abnormal_DNA_replication4.34605183
3MP0003880_abnormal_central_pattern3.61816656
4MP0005076_abnormal_cell_differentiation3.51068801
5MP0005410_abnormal_fertilization3.18878358
6MP0002396_abnormal_hematopoietic_system3.16510736
7MP0003635_abnormal_synaptic_transmissio2.81415928
8* MP0002009_preneoplasia2.76566218
9MP0004885_abnormal_endolymph2.62623172
10MP0002063_abnormal_learning/memory/cond2.53534904
11MP0003329_amyloid_beta_deposits2.52663128
12MP0005451_abnormal_body_composition2.48953787
13MP0002653_abnormal_ependyma_morphology2.48503902
14MP0003763_abnormal_thymus_physiology2.37259635
15MP0009046_muscle_twitch2.36772081
16MP0008260_abnormal_autophagy2.32532725
17MP0002064_seizures2.18838292
18MP0000778_abnormal_nervous_system2.18712709
19MP0009278_abnormal_bone_marrow2.13868824
20MP0005645_abnormal_hypothalamus_physiol2.09551406
21MP0005423_abnormal_somatic_nervous2.04010352
22MP0009840_abnormal_foam_cell2.03267288
23MP0000604_amyloidosis2.01822631
24MP0003718_maternal_effect1.96948579
25MP0005409_darkened_coat_color1.95636547
26MP0004185_abnormal_adipocyte_glucose1.94422413
27MP0004808_abnormal_hematopoietic_stem1.94414472
28MP0000703_abnormal_thymus_morphology1.89012160
29MP0003698_abnormal_male_reproductive1.84210844
30MP0000569_abnormal_digit_pigmentation1.80059608
31MP0004858_abnormal_nervous_system1.78602212
32MP0009745_abnormal_behavioral_response1.77033641
33MP0001348_abnormal_lacrimal_gland1.74706336
34* MP0001929_abnormal_gametogenesis1.68274719
35* MP0002398_abnormal_bone_marrow1.68067983
36MP0001873_stomach_inflammation1.66481997
37MP0003111_abnormal_nucleus_morphology1.66074777
38MP0002572_abnormal_emotion/affect_behav1.63541435
39MP0001440_abnormal_grooming_behavior1.62462612
40MP0002163_abnormal_gland_morphology1.56481703
41MP0002877_abnormal_melanocyte_morpholog1.54827369
42MP0001486_abnormal_startle_reflex1.52493126
43MP0004811_abnormal_neuron_physiology1.48903910
44MP0008961_abnormal_basal_metabolism1.45683927
45MP0002822_catalepsy1.45127194
46MP0001800_abnormal_humoral_immune1.43912013
47MP0004270_analgesia1.42420933
48MP0008995_early_reproductive_senescence1.40039773
49MP0003656_abnormal_erythrocyte_physiolo1.39420534
50* MP0002722_abnormal_immune_system1.38177933
51MP0003878_abnormal_ear_physiology1.35651001
52MP0005377_hearing/vestibular/ear_phenot1.35651001
53MP0003634_abnormal_glial_cell1.34778533
54MP0003938_abnormal_ear_development1.31047680
55MP0001835_abnormal_antigen_presentation1.29567951
56* MP0000689_abnormal_spleen_morphology1.27659703
57MP0001145_abnormal_male_reproductive1.26296746
58MP0001984_abnormal_olfaction1.25421858
59MP0005310_abnormal_salivary_gland1.25320887
60MP0005623_abnormal_meninges_morphology1.24695681
61* MP0000716_abnormal_immune_system1.24483408
62MP0008877_abnormal_DNA_methylation1.22343756
63MP0002152_abnormal_brain_morphology1.22320243
64MP0003077_abnormal_cell_cycle1.22289431
65* MP0003984_embryonic_growth_retardation1.21637038
66MP0002420_abnormal_adaptive_immunity1.20725013
67MP0002184_abnormal_innervation1.20139806
68MP0002161_abnormal_fertility/fecundity1.19991322
69MP0003436_decreased_susceptibility_to1.19953794
70* MP0002088_abnormal_embryonic_growth/wei1.18775795
71MP0000955_abnormal_spinal_cord1.18116495
72MP0002210_abnormal_sex_determination1.17939921
73* MP0001672_abnormal_embryogenesis/_devel1.17809164
74* MP0005380_embryogenesis_phenotype1.17809164
75MP0002090_abnormal_vision1.16721490
76MP0003693_abnormal_embryo_hatching1.15957527
77MP0004197_abnormal_fetal_growth/weight/1.15915073
78MP0004381_abnormal_hair_follicle1.15001632
79MP0002723_abnormal_immune_serum1.13908217
80* MP0002429_abnormal_blood_cell1.13570461
81MP0003300_gastrointestinal_ulcer1.12054474
82MP0002557_abnormal_social/conspecific_i1.11594934
83MP0000428_abnormal_craniofacial_morphol1.11483091
84MP0000313_abnormal_cell_death1.10556786
85MP0002138_abnormal_hepatobiliary_system1.10244624
86MP0002405_respiratory_system_inflammati1.10221974
87MP0000490_abnormal_crypts_of1.10019503
88MP0002452_abnormal_antigen_presenting1.09772904
89MP0002733_abnormal_thermal_nociception1.09658971
90MP0001970_abnormal_pain_threshold1.09545312
91MP0002882_abnormal_neuron_morphology1.08931081
92MP0008007_abnormal_cellular_replicative1.08038156
93MP0005671_abnormal_response_to1.07518742
94MP0002066_abnormal_motor_capabilities/c1.06985796
95MP0004957_abnormal_blastocyst_morpholog1.06219537
96MP0004233_abnormal_muscle_weight1.04809788
97MP0006276_abnormal_autonomic_nervous1.04290489
98MP0001545_abnormal_hematopoietic_system1.04082312
99MP0005397_hematopoietic_system_phenotyp1.04082312
100MP0003123_paternal_imprinting1.03945407
101MP0001919_abnormal_reproductive_system1.03825570
102MP0001661_extended_life_span1.03407480
103MP0002102_abnormal_ear_morphology1.02606345
104MP0003705_abnormal_hypodermis_morpholog1.01981288
105MP0003861_abnormal_nervous_system1.01920194
106MP0010094_abnormal_chromosome_stability1.01059808
107MP0002734_abnormal_mechanical_nocicepti1.00885506
108MP0004043_abnormal_pH_regulation0.99911567
109MP0004264_abnormal_extraembryonic_tissu0.99229524
110MP0004742_abnormal_vestibular_system0.98210428
111MP0003172_abnormal_lysosome_physiology0.97612464
112* MP0002086_abnormal_extraembryonic_tissu0.97499564
113MP0002272_abnormal_nervous_system0.97171076
114MP0000013_abnormal_adipose_tissue0.96837604
115MP0000358_abnormal_cell_content/0.94984525
116MP0002970_abnormal_white_adipose0.94374998
117MP0008058_abnormal_DNA_repair0.94210387
118MP0003866_abnormal_defecation0.94138869
119MP0004947_skin_inflammation0.93450686
120MP0000685_abnormal_immune_system0.93400063
121MP0000653_abnormal_sex_gland0.93274984
122MP0002084_abnormal_developmental_patter0.92111695
123MP0001730_embryonic_growth_arrest0.90774897
124MP0000537_abnormal_urethra_morphology0.90576752
125MP0005000_abnormal_immune_tolerance0.90546461
126MP0003136_yellow_coat_color0.90007652
127MP0001697_abnormal_embryo_size0.89994316
128MP0000015_abnormal_ear_pigmentation0.89767663
129MP0003121_genomic_imprinting0.89608202
130MP0002249_abnormal_larynx_morphology0.89428340
131MP0001501_abnormal_sleep_pattern0.89289537
132MP0005248_abnormal_Harderian_gland0.88932418
133* MP0002019_abnormal_tumor_incidence0.87843392
134* MP0002085_abnormal_embryonic_tissue0.87308888
135MP0003633_abnormal_nervous_system0.86294901
136MP0002254_reproductive_system_inflammat0.86139508
137MP0003303_peritoneal_inflammation0.85553313
138MP0003221_abnormal_cardiomyocyte_apopto0.84195687
139MP0009115_abnormal_fat_cell0.83600159
140MP0008569_lethality_at_weaning0.82876038
141MP0009703_decreased_birth_body0.82840558
142MP0009333_abnormal_splenocyte_physiolog0.81639929
143MP0002075_abnormal_coat/hair_pigmentati0.80876197
144MP0003122_maternal_imprinting0.80344149
145MP0001727_abnormal_embryo_implantation0.80257386
146MP0002067_abnormal_sensory_capabilities0.80248306
147MP0000566_synostosis0.78320023
148MP0000747_muscle_weakness0.77940464
149MP0003959_abnormal_lean_body0.77044876
150* MP0000350_abnormal_cell_proliferation0.76968110
151MP0001502_abnormal_circadian_rhythm0.76571618
152MP0002160_abnormal_reproductive_system0.76432636
153MP0002928_abnormal_bile_duct0.75975046
154MP0002419_abnormal_innate_immunity0.75870865
155MP0003943_abnormal_hepatobiliary_system0.74644733
156MP0001186_pigmentation_phenotype0.74317237
157MP0005621_abnormal_cell_physiology0.74181143
158MP0004130_abnormal_muscle_cell0.74112216
159MP0002098_abnormal_vibrissa_morphology0.74074750
160MP0000371_diluted_coat_color0.73540269
161MP0003115_abnormal_respiratory_system0.72976986
162* MP0002080_prenatal_lethality0.72699395
163MP0003631_nervous_system_phenotype0.70180150
164MP0005551_abnormal_eye_electrophysiolog0.69590454
165MP0010307_abnormal_tumor_latency0.69312706
166MP0003890_abnormal_embryonic-extraembry0.67711352
167MP0003690_abnormal_glial_cell0.66914853
168MP0001529_abnormal_vocalization0.66582139
169MP0005386_behavior/neurological_phenoty0.66392664
170MP0004924_abnormal_behavior0.66392664
171MP0003879_abnormal_hair_cell0.66318044
172MP0003567_abnormal_fetal_cardiomyocyte0.63846517
173MP0001958_emphysema0.63007722
174MP0001819_abnormal_immune_cell0.62997668
175MP0000920_abnormal_myelination0.61896650
176MP0002909_abnormal_adrenal_gland0.61892904

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of the fingertips (HP:0001211)4.08537044
2Overriding aorta (HP:0002623)3.67494731
3Hyperacusis (HP:0010780)3.55726534
4Mutism (HP:0002300)3.54784646
5Progressive cerebellar ataxia (HP:0002073)3.45907454
6Segmental peripheral demyelination/remyelination (HP:0003481)3.43337290
7Facial hemangioma (HP:0000329)3.43010658
8Insomnia (HP:0100785)3.32941770
9Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.30468799
10Absent/shortened dynein arms (HP:0200106)3.21124618
11Dynein arm defect of respiratory motile cilia (HP:0012255)3.21124618
12Acute lymphatic leukemia (HP:0006721)3.20194534
13Asymmetry of the thorax (HP:0001555)3.13398711
14Broad alveolar ridges (HP:0000187)3.03777395
15Visual hallucinations (HP:0002367)2.96572406
16Supranuclear gaze palsy (HP:0000605)2.94098065
17Amyotrophic lateral sclerosis (HP:0007354)2.90399076
18Abnormality of homocysteine metabolism (HP:0010919)2.86756257
19Homocystinuria (HP:0002156)2.86756257
20Chromosomal breakage induced by crosslinking agents (HP:0003221)2.85940294
21Myokymia (HP:0002411)2.83593216
22Termporal pattern (HP:0011008)2.83379341
23Insidious onset (HP:0003587)2.83379341
24Chromsome breakage (HP:0040012)2.79567326
25Neurofibrillary tangles (HP:0002185)2.78332471
26Shoulder girdle muscle weakness (HP:0003547)2.73630165
27Focal motor seizures (HP:0011153)2.70051585
28Sparse lateral eyebrow (HP:0005338)2.68219882
29Deep philtrum (HP:0002002)2.66335980
30Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.64470797
31Cerebral inclusion bodies (HP:0100314)2.61756391
32Dysmetric saccades (HP:0000641)2.60364200
33Ankle clonus (HP:0011448)2.58399624
34Cerebral hypomyelination (HP:0006808)2.58021421
35Elfin facies (HP:0004428)2.56832481
36Sandal gap (HP:0001852)2.51857312
37Renovascular hypertension (HP:0100817)2.50441083
38Truncal ataxia (HP:0002078)2.50019933
39Heterotopia (HP:0002282)2.49964761
40Abnormality of the diencephalon (HP:0010662)2.48171316
41High anterior hairline (HP:0009890)2.45539026
42Acute myeloid leukemia (HP:0004808)2.45097740
43Septate vagina (HP:0001153)2.44861467
44Abnormal respiratory motile cilium morphology (HP:0005938)2.43448601
45Abnormal respiratory epithelium morphology (HP:0012253)2.43448601
46Delusions (HP:0000746)2.43044160
47Renal duplication (HP:0000075)2.42989485
48Spinal cord lesions (HP:0100561)2.41690314
49Syringomyelia (HP:0003396)2.41690314
50Obsessive-compulsive behavior (HP:0000722)2.38831760
51Global brain atrophy (HP:0002283)2.38200172
52Lissencephaly (HP:0001339)2.35432849
53Focal seizures (HP:0007359)2.35018527
54Curly hair (HP:0002212)2.31865279
55Deep palmar crease (HP:0006191)2.30878990
56Limb hypertonia (HP:0002509)2.30741757
57Rhinitis (HP:0012384)2.29828601
58Peritonitis (HP:0002586)2.25464301
59Anal stenosis (HP:0002025)2.25345966
60Megalencephaly (HP:0001355)2.23366486
61Chronic bronchitis (HP:0004469)2.22841339
62Abnormal respiratory motile cilium physiology (HP:0012261)2.22554731
63Apathy (HP:0000741)2.20264116
64Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.19771794
65Urinary urgency (HP:0000012)2.19737234
66Patellar aplasia (HP:0006443)2.18791340
67Abnormality of chromosome segregation (HP:0002916)2.17820011
68Hemiparesis (HP:0001269)2.17511609
69Skull defect (HP:0001362)2.16101640
70Rimmed vacuoles (HP:0003805)2.14726699
71Excessive salivation (HP:0003781)2.13838329
72Drooling (HP:0002307)2.13838329
73Split foot (HP:0001839)2.13810553
74Viral hepatitis (HP:0006562)2.13573266
75Postnatal microcephaly (HP:0005484)2.13263719
76Pelvic girdle muscle weakness (HP:0003749)2.13049715
77Diminished motivation (HP:0000745)2.11627711
78Cortical dysplasia (HP:0002539)2.11236880
79Polyphagia (HP:0002591)2.10937258
80Truncus arteriosus (HP:0001660)2.09230693
81Restlessness (HP:0000711)2.06998236
82Eczematoid dermatitis (HP:0000976)2.06768615
83Transitional cell carcinoma of the bladder (HP:0006740)2.05734948
84Flat cornea (HP:0007720)2.05048507
85Lower limb hyperreflexia (HP:0002395)2.04879839
86Male infertility (HP:0003251)2.04819555
87Recurrent bacterial skin infections (HP:0005406)2.04335276
88Breast hypoplasia (HP:0003187)2.03834651
89Spastic tetraparesis (HP:0001285)2.03710416
90* Fatigue (HP:0012378)2.03578843
91Thick eyebrow (HP:0000574)2.03413899
92CNS hypomyelination (HP:0003429)2.03341139
93Subacute progressive viral hepatitis (HP:0006572)2.02270257
94Partial agenesis of the corpus callosum (HP:0001338)2.02230652
95Recurrent viral infections (HP:0004429)2.01869141
96Nephrogenic diabetes insipidus (HP:0009806)2.01636894
97Gait imbalance (HP:0002141)1.98927076
98Atrophy/Degeneration involving motor neurons (HP:0007373)1.97691575
9911 pairs of ribs (HP:0000878)1.96948411
100Cutis marmorata (HP:0000965)1.96039194
101Esotropia (HP:0000565)1.95196579
102Personality changes (HP:0000751)1.95094364
103Patellar dislocation (HP:0002999)1.94945620
104Ventricular fibrillation (HP:0001663)1.94286355
105Uterine leiomyosarcoma (HP:0002891)1.93974622
106Leiomyosarcoma (HP:0100243)1.93974622
107Broad palm (HP:0001169)1.93406673
108Bladder carcinoma (HP:0002862)1.92799504
109Bladder neoplasm (HP:0009725)1.92799504
110Bowel incontinence (HP:0002607)1.91840971
111Broad nasal tip (HP:0000455)1.91623840
112Concave nail (HP:0001598)1.91531389
113Germ cell neoplasia (HP:0100728)1.91275381
114Abnormality of the musculature of the pelvis (HP:0001469)1.90606687
115Abnormality of the hip-girdle musculature (HP:0001445)1.90606687
116Recurrent fungal infections (HP:0002841)1.90343450
117Chronic otitis media (HP:0000389)1.89462952
118Tetraplegia (HP:0002445)1.88940735
119Truncal obesity (HP:0001956)1.88689633
120Colitis (HP:0002583)1.88290541
121Prolonged neonatal jaundice (HP:0006579)1.88220698
122Panhypogammaglobulinemia (HP:0003139)1.86796034
123Overlapping toe (HP:0001845)1.86723172
124Morphological abnormality of the pyramidal tract (HP:0002062)1.86460078
125Spastic gait (HP:0002064)1.85855292
126Abnormal large intestine physiology (HP:0012700)1.85741007
127Narrow palate (HP:0000189)1.85601968
128Progressive inability to walk (HP:0002505)1.84036891
129Macroorchidism (HP:0000053)1.82820451
130Impaired social interactions (HP:0000735)1.82738456
131Abnormal social behavior (HP:0012433)1.82738456
132* Cafe-au-lait spot (HP:0000957)1.82583207
133Posterior subcapsular cataract (HP:0007787)1.81859785
134Cystic hygroma (HP:0000476)1.81418951
135Spina bifida occulta (HP:0003298)1.80296783
136Genetic anticipation (HP:0003743)1.80204325
137Infertility (HP:0000789)1.79998689
138Birth length less than 3rd percentile (HP:0003561)1.79492837
139Poor eye contact (HP:0000817)1.79162053
140Recurrent cutaneous fungal infections (HP:0011370)1.77938742
141Chronic mucocutaneous candidiasis (HP:0002728)1.77938742
142Abnormal spermatogenesis (HP:0008669)1.77257763
143Abnormality of DNA repair (HP:0003254)1.76946847
144Bladder diverticulum (HP:0000015)1.76738697
145Abnormality of the alveolar ridges (HP:0006477)1.76576502
146Large earlobe (HP:0009748)1.76262140
147Nasal polyposis (HP:0100582)1.76087754
148Epileptic encephalopathy (HP:0200134)1.75902568
149Intellectual disability, severe (HP:0010864)1.74818820
150Protruding tongue (HP:0010808)1.74507594
151Progressive microcephaly (HP:0000253)1.74021629
152Pustule (HP:0200039)1.73994750
153Spontaneous abortion (HP:0005268)1.73982589
154Long eyelashes (HP:0000527)1.72835470
155Pointed chin (HP:0000307)1.71223050
156Hereditary nonpolyposis colorectal carcinoma (HP:0006716)1.70895951
157Attention deficit hyperactivity disorder (HP:0007018)1.70618433
158Abnormality of the distal phalanx of the thumb (HP:0009617)1.69453693
159Hypoplasia of the fovea (HP:0007750)1.69073552
160Aplasia/Hypoplasia of the fovea (HP:0008060)1.69073552
161Dysautonomia (HP:0002459)1.68961319
162Volvulus (HP:0002580)1.68934729
163Ankyloglossia (HP:0010296)1.68692870
164Myelodysplasia (HP:0002863)1.67691655
165Stereotypic behavior (HP:0000733)1.67466720
166Recurrent abscess formation (HP:0002722)1.67397532
167Ureteral obstruction (HP:0006000)1.67390513
168Centrally nucleated skeletal muscle fibers (HP:0003687)1.67143187
169Ureteral stenosis (HP:0000071)1.66811394
170Megalocornea (HP:0000485)1.66775146
171Aplasia/Hypoplasia of the patella (HP:0006498)1.66418497
172Thrombocytosis (HP:0001894)1.65861487
173Gastrointestinal infarctions (HP:0005244)1.65854359
174Gout (HP:0001997)1.65846063
175Polygenic inheritance (HP:0010982)1.65686924
176Clonus (HP:0002169)1.64944210
177Hypoparathyroidism (HP:0000829)1.64825276
178Abnormality of the radial head (HP:0003995)1.64202917
179Ectopic kidney (HP:0000086)1.63788366
180Basal cell carcinoma (HP:0002671)1.63636504
181Missing ribs (HP:0000921)1.63104721
182Long palpebral fissure (HP:0000637)1.62777422
183Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.60744310
184* Sporadic (HP:0003745)1.58742480
185Neonatal hypoglycemia (HP:0001998)1.58116727
186Cutaneous melanoma (HP:0012056)1.57850647
187Disproportionate tall stature (HP:0001519)1.57829258
188Abnormality of the parietal bone (HP:0002696)1.57414192
189Radioulnar synostosis (HP:0002974)1.57167458
190Oligodactyly (hands) (HP:0001180)1.56777084
191Abnormality of chromosome stability (HP:0003220)1.56555200
192Hamartoma (HP:0010566)1.56401744
193Thyroid carcinoma (HP:0002890)1.55903102

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EEF2K4.45696447
2BUB14.35502081
3MARK13.87023882
4CDK123.19656575
5MAP3K93.15938916
6EPHA42.70595691
7RIPK42.67524299
8MAP3K102.63476999
9SIK22.53093499
10KSR12.49270793
11DYRK32.45018678
12PDK42.43903152
13PDK32.43903152
14PRPF4B2.40723523
15DYRK22.04103819
16MAP3K131.99705090
17WEE11.98959807
18KSR21.96907684
19PAK61.96181094
20IRAK31.94198880
21ICK1.90303569
22BLK1.88627711
23CCNB11.76482933
24BRD41.65613545
25MINK11.58751490
26TSSK61.58478728
27MAP3K141.54388512
28STK241.51777747
29TAOK31.48699171
30PRKD31.47792683
31MAP4K11.47386047
32TESK21.45981572
33FGFR41.44948675
34NEK21.43941656
35MAP3K21.43525841
36YES11.42892613
37PKN21.41964241
38CAMKK11.41220506
39RPS6KB21.40315032
40SRPK11.39990220
41SIK11.39060958
42PLK31.38293878
43SCYL21.37468440
44IRAK41.36327681
45BRSK11.31669676
46ACVR1B1.29652673
47MARK21.28805862
48SMG11.28544000
49CLK11.22959109
50CDK191.22940501
51DAPK21.20695404
52AKT31.20448761
53BMPR21.19650014
54PAK31.19607524
55CAMK1D1.19467470
56CDC71.18250712
57PDK21.17679258
58NUAK11.17488808
59FGFR31.16610547
60RAF11.15216651
61SIK31.10037584
62MAPK131.09886898
63PNCK1.09011450
64ARAF1.08905666
65RET1.08164826
66MAP3K41.06075332
67CDK51.05750757
68CDK61.04174601
69JAK31.03999631
70TYRO31.01459035
71TYK21.00697459
72HCK0.99522427
73PLK20.99007208
74RPS6KA40.96800092
75PLK40.96750920
76LATS20.93752818
77CDK140.93569126
78MTOR0.92817864
79BCR0.92408861
80PAK10.92187298
81PRKCZ0.92069556
82NTRK20.91455223
83CSNK1G20.90553668
84ATR0.90411919
85NTRK30.89704362
86BTK0.89614575
87FGR0.84848245
88TNK20.82354460
89CDK150.82325564
90MAP3K60.81933591
91TRIB30.81154891
92CAMK1G0.81009949
93CDK180.80949882
94SYK0.80300790
95PKN10.79824262
96PIM10.79603164
97MAP2K40.78482237
98STK30.78292481
99JAK10.78269788
100LIMK10.77565631
101DYRK1A0.76948998
102CSNK1G30.76899540
103EIF2AK20.76807102
104PLK10.76105899
105EPHA30.76008170
106MAPK110.75309782
107CDK11A0.74693053
108RPS6KA60.73967609
109CAMK40.73867804
110RPS6KC10.73011965
111RPS6KL10.73011965
112MAP2K20.72961167
113CHUK0.72384658
114BRAF0.71479718
115JAK20.71450798
116* CHEK20.69032101
117TAOK10.68751282
118PRKCG0.68592914
119MAP2K30.67849758
120NTRK10.67417792
121IKBKE0.66045551
122SGK30.65937715
123MAP3K70.65900594
124DAPK10.65256715
125CDK70.65056749
126STK110.64334757
127TESK10.62973702
128ALK0.62936047
129RPS6KB10.61615961
130IRAK20.61366525
131UHMK10.59814073
132PINK10.58299853
133IRAK10.57868950
134GRK60.57302739
135FES0.56554769
136CAMKK20.56295883
137LYN0.55190264
138HIPK20.53333646
139MAPK100.52994398
140CSF1R0.52860545
141SGK20.52306746
142PTK60.52054999
143CDK40.51130460
144SGK2230.50928404
145SGK4940.50928404
146NEK60.50338852
147CDK20.49100046
148ATM0.48986257
149MAP2K70.48442658
150EPHB20.48360857
151MARK30.45867614
152MKNK10.45759228
153MELK0.45754019
154PDGFRB0.45692259
155DYRK1B0.45145533
156CAMK2B0.44990272
157PTK2B0.43988622
158PASK0.43534456
159GRK50.42211564
160MAP2K10.41301215
161CHEK10.41137488
162MAP3K110.40825617
163CSNK1A1L0.40288094
164PDPK10.39882946
165PDK10.38887968
166MKNK20.37715903
167CSNK1G10.37349412
168PRKAA10.36061424
169BRSK20.35823001
170STK380.35781973
171PRKCI0.34364886
172WNK10.32225064
173AURKA0.29003274
174EPHA20.28142214

Predicted pathways (KEGG)

RankGene SetZ-score
1Vitamin B6 metabolism_Homo sapiens_hsa007504.75779454
2Non-small cell lung cancer_Homo sapiens_hsa052232.40275959
3Acute myeloid leukemia_Homo sapiens_hsa052212.30271278
4Synaptic vesicle cycle_Homo sapiens_hsa047212.04369411
5Nicotine addiction_Homo sapiens_hsa050331.94555363
6Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.94053347
7Oocyte meiosis_Homo sapiens_hsa041141.86606161
8Pancreatic cancer_Homo sapiens_hsa052121.86509887
9Endometrial cancer_Homo sapiens_hsa052131.85779150
10RNA transport_Homo sapiens_hsa030131.70918672
11RNA polymerase_Homo sapiens_hsa030201.56759731
12Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.54631946
13Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.53830678
14Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.52780202
15Pentose phosphate pathway_Homo sapiens_hsa000301.49628760
16Regulation of autophagy_Homo sapiens_hsa041401.49475503
17Hepatitis B_Homo sapiens_hsa051611.49322831
18Proteasome_Homo sapiens_hsa030501.48337473
19Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.46134147
20Glycerophospholipid metabolism_Homo sapiens_hsa005641.45810022
21Prostate cancer_Homo sapiens_hsa052151.34547886
22Thyroid cancer_Homo sapiens_hsa052161.33645054
23GABAergic synapse_Homo sapiens_hsa047271.31749167
24Long-term potentiation_Homo sapiens_hsa047201.30762903
25Lysine degradation_Homo sapiens_hsa003101.29334435
26Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.27938577
27Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.27446434
28Glutamatergic synapse_Homo sapiens_hsa047241.25180595
29Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.24889387
30Viral carcinogenesis_Homo sapiens_hsa052031.23414126
31Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.22298076
32Type II diabetes mellitus_Homo sapiens_hsa049301.22208054
33Measles_Homo sapiens_hsa051621.21947524
34* Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.20518293
35Amphetamine addiction_Homo sapiens_hsa050311.20398795
36Epstein-Barr virus infection_Homo sapiens_hsa051691.18892958
37MicroRNAs in cancer_Homo sapiens_hsa052061.17520123
38Endocytosis_Homo sapiens_hsa041441.17488124
39Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.16369570
40Cell cycle_Homo sapiens_hsa041101.16041118
41Toll-like receptor signaling pathway_Homo sapiens_hsa046201.15984010
42Circadian entrainment_Homo sapiens_hsa047131.14088381
43Hepatitis C_Homo sapiens_hsa051601.14072439
44Leishmaniasis_Homo sapiens_hsa051401.13890465
45Morphine addiction_Homo sapiens_hsa050321.12824344
46Insulin signaling pathway_Homo sapiens_hsa049101.10739363
47RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.10695618
48AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.10187266
49* Renal cell carcinoma_Homo sapiens_hsa052111.06183682
50One carbon pool by folate_Homo sapiens_hsa006701.05989144
51NF-kappa B signaling pathway_Homo sapiens_hsa040641.05438041
52Dopaminergic synapse_Homo sapiens_hsa047281.04169431
53Gap junction_Homo sapiens_hsa045401.02735083
54AMPK signaling pathway_Homo sapiens_hsa041521.01577768
55Influenza A_Homo sapiens_hsa051640.99614293
56Collecting duct acid secretion_Homo sapiens_hsa049660.97952523
57Notch signaling pathway_Homo sapiens_hsa043300.96967845
58Estrogen signaling pathway_Homo sapiens_hsa049150.96012097
59Dorso-ventral axis formation_Homo sapiens_hsa043200.95984463
60Olfactory transduction_Homo sapiens_hsa047400.95839104
61Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.94420967
62Primary immunodeficiency_Homo sapiens_hsa053400.93792332
63mTOR signaling pathway_Homo sapiens_hsa041500.93578320
64Bladder cancer_Homo sapiens_hsa052190.93390493
65Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.92260517
66Jak-STAT signaling pathway_Homo sapiens_hsa046300.92196331
67Lysosome_Homo sapiens_hsa041420.91543070
68Transcriptional misregulation in cancer_Homo sapiens_hsa052020.91252195
69NOD-like receptor signaling pathway_Homo sapiens_hsa046210.88219617
70Spliceosome_Homo sapiens_hsa030400.88051698
71Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.87694610
72Phospholipase D signaling pathway_Homo sapiens_hsa040720.87107296
73VEGF signaling pathway_Homo sapiens_hsa043700.86339786
74Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.85778152
75Non-homologous end-joining_Homo sapiens_hsa034500.85627319
76Selenocompound metabolism_Homo sapiens_hsa004500.85360842
77Neurotrophin signaling pathway_Homo sapiens_hsa047220.84288340
78p53 signaling pathway_Homo sapiens_hsa041150.84222366
79Glioma_Homo sapiens_hsa052140.82648642
80Antigen processing and presentation_Homo sapiens_hsa046120.82212166
81B cell receptor signaling pathway_Homo sapiens_hsa046620.81954326
82Cholinergic synapse_Homo sapiens_hsa047250.80892983
83Axon guidance_Homo sapiens_hsa043600.80762300
84Renin secretion_Homo sapiens_hsa049240.80566781
85Carbohydrate digestion and absorption_Homo sapiens_hsa049730.80197103
86Central carbon metabolism in cancer_Homo sapiens_hsa052300.79478499
87Tuberculosis_Homo sapiens_hsa051520.79412430
88Vibrio cholerae infection_Homo sapiens_hsa051100.78665776
89Osteoclast differentiation_Homo sapiens_hsa043800.78545609
90Insulin resistance_Homo sapiens_hsa049310.78538944
91Cocaine addiction_Homo sapiens_hsa050300.77843482
92Colorectal cancer_Homo sapiens_hsa052100.77711966
93Apoptosis_Homo sapiens_hsa042100.77375864
94Choline metabolism in cancer_Homo sapiens_hsa052310.77024571
95Circadian rhythm_Homo sapiens_hsa047100.76974084
96Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.76670660
97Basal transcription factors_Homo sapiens_hsa030220.75462768
98Melanoma_Homo sapiens_hsa052180.74872589
99Shigellosis_Homo sapiens_hsa051310.74428020
100Long-term depression_Homo sapiens_hsa047300.73744247
101Adipocytokine signaling pathway_Homo sapiens_hsa049200.73341804
102Oxytocin signaling pathway_Homo sapiens_hsa049210.73171678
103Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.72413556
104Toxoplasmosis_Homo sapiens_hsa051450.72156611
105ErbB signaling pathway_Homo sapiens_hsa040120.72098312
106Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.70926909
107Platelet activation_Homo sapiens_hsa046110.70880918
108Fanconi anemia pathway_Homo sapiens_hsa034600.69970180
109Sphingolipid signaling pathway_Homo sapiens_hsa040710.68738134
110HTLV-I infection_Homo sapiens_hsa051660.68139125
111GnRH signaling pathway_Homo sapiens_hsa049120.68115334
112mRNA surveillance pathway_Homo sapiens_hsa030150.67860539
113Homologous recombination_Homo sapiens_hsa034400.67068884
114DNA replication_Homo sapiens_hsa030300.66082953
115Alcoholism_Homo sapiens_hsa050340.64901959
116MAPK signaling pathway_Homo sapiens_hsa040100.64876768
117Salivary secretion_Homo sapiens_hsa049700.64648221
118Small cell lung cancer_Homo sapiens_hsa052220.64642162
119Gastric acid secretion_Homo sapiens_hsa049710.63259581
120Type I diabetes mellitus_Homo sapiens_hsa049400.63197709
121Chemokine signaling pathway_Homo sapiens_hsa040620.62942919
122Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.61291119
123Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.60515217
124SNARE interactions in vesicular transport_Homo sapiens_hsa041300.59861625
125Rheumatoid arthritis_Homo sapiens_hsa053230.59740585
126Longevity regulating pathway - mammal_Homo sapiens_hsa042110.59104763
127Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.58756679
128Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.58184046
129Thyroid hormone signaling pathway_Homo sapiens_hsa049190.57615654
130Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.56752779
131T cell receptor signaling pathway_Homo sapiens_hsa046600.56687317
132Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.55686758
133Purine metabolism_Homo sapiens_hsa002300.55345720
134Inositol phosphate metabolism_Homo sapiens_hsa005620.55204633
135Hippo signaling pathway_Homo sapiens_hsa043900.54784339
136Chronic myeloid leukemia_Homo sapiens_hsa052200.54470847
137Phosphatidylinositol signaling system_Homo sapiens_hsa040700.53993905
138Mismatch repair_Homo sapiens_hsa034300.52657109
139TNF signaling pathway_Homo sapiens_hsa046680.51060943
140Ether lipid metabolism_Homo sapiens_hsa005650.50407247
141Prion diseases_Homo sapiens_hsa050200.50382270
142Legionellosis_Homo sapiens_hsa051340.49617986
143Prolactin signaling pathway_Homo sapiens_hsa049170.49299096
144Fructose and mannose metabolism_Homo sapiens_hsa000510.49075732
145* HIF-1 signaling pathway_Homo sapiens_hsa040660.48173182
146FoxO signaling pathway_Homo sapiens_hsa040680.47639902
147Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.47202335
148Pyrimidine metabolism_Homo sapiens_hsa002400.47053752
149Herpes simplex infection_Homo sapiens_hsa051680.46108719
150Aldosterone synthesis and secretion_Homo sapiens_hsa049250.46081628
151Nucleotide excision repair_Homo sapiens_hsa034200.45678361
152Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.44606341
153Rap1 signaling pathway_Homo sapiens_hsa040150.41155317
154Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.41085996
155* Pathways in cancer_Homo sapiens_hsa052000.39407940

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