MSH4

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





Description: This gene encodes a member of the DNA mismatch repair mutS family. This member is a meiosis-specific protein that is not involved in DNA mismatch correction, but is required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis I. This protein and MSH5 form a heterodimer which binds uniquely to a Holliday Junction and its developmental progenitor, thus provoking ADP-ATP exchange, and stabilizing the interaction between parental chromosomes during meiosis double-stranded break repair. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cellular response to ATP (GO:0071318)8.12140648
2rRNA methylation (GO:0031167)7.26282777
3negative regulation of cell aging (GO:0090344)6.39954682
4adenosine receptor signaling pathway (GO:0001973)6.35576036
5regulation of skeletal muscle contraction (GO:0014819)6.34522235
6rRNA modification (GO:0000154)6.06370890
7GDP-mannose metabolic process (GO:0019673)5.84647724
8regulation of synapse structural plasticity (GO:0051823)5.67756546
9G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)5.66402006
10purinergic nucleotide receptor signaling pathway (GO:0035590)5.54019098
11nucleotide transmembrane transport (GO:1901679)5.42131679
12piRNA metabolic process (GO:0034587)5.22205913
13adenine nucleotide transport (GO:0051503)5.06102961
14purine ribonucleotide transport (GO:0015868)5.04842534
15lens fiber cell differentiation (GO:0070306)4.87436332
16snRNA processing (GO:0016180)4.84374963
17sensory perception of taste (GO:0050909)4.80768693
18melanin biosynthetic process (GO:0042438)4.75144313
19positive regulation of protein kinase C signaling (GO:0090037)4.72885911
20behavioral response to nicotine (GO:0035095)4.72684395
21mitotic metaphase plate congression (GO:0007080)4.65098028
22detection of light stimulus involved in visual perception (GO:0050908)4.64018443
23detection of light stimulus involved in sensory perception (GO:0050962)4.64018443
24regulation of protein kinase A signaling (GO:0010738)4.62050369
25protein K6-linked ubiquitination (GO:0085020)4.59548266
26snRNA metabolic process (GO:0016073)4.49603329
27regulation of meiosis I (GO:0060631)4.36584421
28female gonad development (GO:0008585)4.34184445
29secondary metabolite biosynthetic process (GO:0044550)4.30060105
30protein K11-linked deubiquitination (GO:0035871)4.28452143
31melanin metabolic process (GO:0006582)4.23125869
32protein carboxylation (GO:0018214)4.20217150
33peptidyl-glutamic acid carboxylation (GO:0017187)4.20217150
34male meiosis (GO:0007140)4.16527889
35DNA methylation involved in gamete generation (GO:0043046)4.16242896
36granulocyte differentiation (GO:0030851)4.14107512
37microtubule depolymerization (GO:0007019)4.13402384
38response to ATP (GO:0033198)4.06003863
39negative regulation of keratinocyte proliferation (GO:0010839)4.03869843
40nucleoside transmembrane transport (GO:1901642)4.01614329
41mitotic cell cycle arrest (GO:0071850)3.97227047
42centriole assembly (GO:0098534)3.92330739
43regulation of meiosis (GO:0040020)3.92159728
44metaphase plate congression (GO:0051310)3.91991779
45cilium or flagellum-dependent cell motility (GO:0001539)3.89528999
46purine nucleotide transport (GO:0015865)3.83194674
47purinergic receptor signaling pathway (GO:0035587)3.82346900
48estrogen biosynthetic process (GO:0006703)3.76929868
49urinary tract smooth muscle contraction (GO:0014848)3.73488407
50acrosome assembly (GO:0001675)3.72191229
51meiotic cell cycle (GO:0051321)3.70209532
52oocyte maturation (GO:0001556)3.68469623
53negative regulation of interleukin-8 production (GO:0032717)3.66131278
54sialylation (GO:0097503)3.64368100
55neuromuscular synaptic transmission (GO:0007274)3.63008017
56DNA damage response, signal transduction resulting in transcription (GO:0042772)3.61700205
57cellular response to gamma radiation (GO:0071480)3.61641856
58DNA synthesis involved in DNA repair (GO:0000731)3.61021301
59negative regulation of meiosis (GO:0045835)3.59538571
60maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)3.58386424
61regulation of RIG-I signaling pathway (GO:0039535)3.57161893
62heme transport (GO:0015886)3.55965120
63peristalsis (GO:0030432)3.55811316
64establishment of chromosome localization (GO:0051303)3.49677810
65myoblast migration (GO:0051451)3.48320976
663-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)3.48108920
67purine ribonucleoside bisphosphate metabolic process (GO:0034035)3.48108920
68regulation of cytokine production involved in inflammatory response (GO:1900015)3.46530154
69transepithelial transport (GO:0070633)3.45610743
70DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla3.45245517
71centriole replication (GO:0007099)3.44532942
72histone H3-K4 trimethylation (GO:0080182)3.43477664
73peptidyl-threonine dephosphorylation (GO:0035970)3.43024265
74sex determination (GO:0007530)3.41907091
75attachment of spindle microtubules to kinetochore (GO:0008608)3.41295357
76phosphatidylethanolamine biosynthetic process (GO:0006646)3.40956125
77male meiosis I (GO:0007141)3.37709315
78sphingosine metabolic process (GO:0006670)3.37187121
79replicative senescence (GO:0090399)3.36818420
80negative regulation of DNA-dependent DNA replication (GO:2000104)3.35784179
81monoubiquitinated protein deubiquitination (GO:0035520)3.35351802
82kinetochore assembly (GO:0051382)3.33914363
83regulation of female gonad development (GO:2000194)3.33910500
84phosphatidylethanolamine metabolic process (GO:0046337)3.33089743
85maturation of 5.8S rRNA (GO:0000460)3.31919765
86DNA damage induced protein phosphorylation (GO:0006975)3.28767530
87positive regulation of DNA-dependent DNA replication (GO:2000105)3.27130335
88* female gamete generation (GO:0007292)3.24588190
89cellular response to exogenous dsRNA (GO:0071360)3.21729874
90regulation of exit from mitosis (GO:0007096)3.19997192
91negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)3.19765941
92regulation of meiotic cell cycle (GO:0051445)3.18149197
93regulation of mitotic spindle checkpoint (GO:1903504)3.17898602
94regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.17898602
95replication fork processing (GO:0031297)3.17105541
96regulation of double-strand break repair via homologous recombination (GO:0010569)3.16808179
97UDP-N-acetylglucosamine metabolic process (GO:0006047)3.14176144
98regulation of histone H3-K27 methylation (GO:0061085)3.14066224
99superoxide anion generation (GO:0042554)3.11942607
100negative regulation of homotypic cell-cell adhesion (GO:0034111)3.11773260
101regulation of phospholipid biosynthetic process (GO:0071071)3.11201541
102nucleotide-sugar biosynthetic process (GO:0009226)3.06908774
103sister chromatid cohesion (GO:0007062)3.06822262
104regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039531)3.06200962
105regulation of keratinocyte proliferation (GO:0010837)3.05359257
106diol metabolic process (GO:0034311)3.04901173
107positive regulation of heat generation (GO:0031652)3.04869226
108tRNA modification (GO:0006400)3.04788414
109iron coordination entity transport (GO:1901678)3.04409571
110G-protein coupled purinergic receptor signaling pathway (GO:0035588)3.04250118
111negative regulation of fatty acid biosynthetic process (GO:0045717)3.03643309
112negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)3.03615798
113CENP-A containing nucleosome assembly (GO:0034080)3.02044509
114negative regulation of retinoic acid receptor signaling pathway (GO:0048387)3.01473784
115sphingoid metabolic process (GO:0046519)3.00855874
116rRNA catabolic process (GO:0016075)2.95880423
117nucleotide transport (GO:0006862)2.95588886
118regulation of MHC class II biosynthetic process (GO:0045346)2.95067858
119chromatin remodeling at centromere (GO:0031055)2.94060824
120C-terminal protein lipidation (GO:0006501)2.93183524
121nucleoside transport (GO:0015858)2.92595466
122photoreceptor cell development (GO:0042461)2.91783437
123N-terminal protein amino acid modification (GO:0031365)2.91190290
124histone phosphorylation (GO:0016572)2.90675717
125dolichol-linked oligosaccharide biosynthetic process (GO:0006488)2.90599662
126negative regulation of glycoprotein biosynthetic process (GO:0010561)2.89170705
127peptidyl-lysine trimethylation (GO:0018023)2.88587858
128regulation of fatty acid oxidation (GO:0046320)2.88312700
129sulfur compound transport (GO:0072348)2.88134476
130positive regulation of triglyceride biosynthetic process (GO:0010867)2.87568999
131positive regulation of meiosis (GO:0045836)2.86622190
132DNA strand renaturation (GO:0000733)2.85110526
133gonadal mesoderm development (GO:0007506)2.83501736
134meiosis I (GO:0007127)2.81463686
135sulfate transport (GO:0008272)2.80193771
136negative regulation of hormone biosynthetic process (GO:0032353)2.78932457
137negative regulation of hormone metabolic process (GO:0032351)2.78932457
138multicellular organism reproduction (GO:0032504)2.78874190
139kinetochore organization (GO:0051383)2.77566212
140visual perception (GO:0007601)2.76443842
141positive regulation of hematopoietic progenitor cell differentiation (GO:1901534)2.75715431
142histone demethylation (GO:0016577)2.75191512
143proline biosynthetic process (GO:0006561)2.74835240
144eye photoreceptor cell development (GO:0042462)2.74633065
145histone lysine demethylation (GO:0070076)2.73011783
146sensory perception of light stimulus (GO:0050953)2.72659183
147sulfate transmembrane transport (GO:1902358)2.71764397
148C-terminal protein amino acid modification (GO:0018410)2.71746512
149negative regulation of telomere maintenance (GO:0032205)2.70965961
150activation of adenylate cyclase activity (GO:0007190)2.69881845
151positive regulation of catecholamine secretion (GO:0033605)2.69525017
152G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.69197419
153positive regulation of megakaryocyte differentiation (GO:0045654)2.69060820
154regulation of nuclear cell cycle DNA replication (GO:0033262)2.68658075
155inner cell mass cell proliferation (GO:0001833)2.68309509
156peptidyl-glutamic acid modification (GO:0018200)2.68026602
157negative regulation of Rho protein signal transduction (GO:0035024)2.68010178
158positive regulation of meiotic cell cycle (GO:0051446)2.67841905
159UV protection (GO:0009650)2.66836131
160oogenesis (GO:0048477)2.66727100
161peptidyl-lysine methylation (GO:0018022)2.66451792
162negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)2.65346319
163negative regulation of DNA-templated transcription, elongation (GO:0032785)2.65346319
164meiotic nuclear division (GO:0007126)2.65272425
165glycerophospholipid catabolic process (GO:0046475)2.63522971
166positive regulation of interleukin-1 beta secretion (GO:0050718)2.63335432
167DNA replication checkpoint (GO:0000076)2.61720412
168regulation of non-canonical Wnt signaling pathway (GO:2000050)2.59715761
169histone exchange (GO:0043486)2.59406832
170DNA integration (GO:0015074)2.58715886
171microtubule polymerization or depolymerization (GO:0031109)2.58243400
172histone H3-K36 demethylation (GO:0070544)2.57320371
173regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.55809353
174G-protein coupled receptor internalization (GO:0002031)2.54102737
175DNA replication-independent nucleosome organization (GO:0034724)2.54056110
176DNA replication-independent nucleosome assembly (GO:0006336)2.54056110
177microtubule nucleation (GO:0007020)2.53610393
178DNA double-strand break processing (GO:0000729)2.53182485
179notochord development (GO:0030903)2.51571944
180regulation of transcription from RNA polymerase I promoter (GO:0006356)2.51504070
181microtubule anchoring (GO:0034453)2.51225029
182synaptonemal complex assembly (GO:0007130)2.50731716
183DNA alkylation (GO:0006305)2.50236365
184DNA methylation (GO:0006306)2.50236365
185spindle checkpoint (GO:0031577)2.50122615
186N-terminal protein amino acid acetylation (GO:0006474)2.49579449
187phosphatidylglycerol biosynthetic process (GO:0006655)2.49524128
188poly(A)+ mRNA export from nucleus (GO:0016973)2.46498848
189negative regulation of cell division (GO:0051782)2.45980529
190protein dealkylation (GO:0008214)2.45880718

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1STAT6_21828071_ChIP-Seq_BEAS2B_Human3.85929700
2VDR_21846776_ChIP-Seq_THP-1_Human3.42860419
3PCGF2_27294783_Chip-Seq_ESCs_Mouse3.20428395
4FLI1_27457419_Chip-Seq_LIVER_Mouse3.20017683
5GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse3.19556372
6GBX2_23144817_ChIP-Seq_PC3_Human3.08937730
7TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.06029465
8P68_20966046_ChIP-Seq_HELA_Human3.03316022
9SMAD_19615063_ChIP-ChIP_OVARY_Human2.97297927
10CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human2.90747575
11MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.81015045
12E2F1_20622854_ChIP-Seq_HELA_Human2.68838414
13SUZ12_27294783_Chip-Seq_NPCs_Mouse2.61911388
14SALL1_21062744_ChIP-ChIP_HESCs_Human2.56907905
15MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human2.52126908
16NFE2_27457419_Chip-Seq_LIVER_Mouse2.51610838
17E2F7_22180533_ChIP-Seq_HELA_Human2.49806275
18ZFP57_27257070_Chip-Seq_ESCs_Mouse2.42000973
19KAP1_22055183_ChIP-Seq_ESCs_Mouse2.40991229
20PHF8_20622854_ChIP-Seq_HELA_Human2.36451728
21DMRT1_21621532_ChIP-ChIP_FETAL_Ovary2.34046726
22BP1_19119308_ChIP-ChIP_Hs578T_Human2.33572266
23PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.33491450
24BCL6_27268052_Chip-Seq_Bcells_Human2.31216049
25BCOR_27268052_Chip-Seq_Bcells_Human2.29381755
26XRN2_22483619_ChIP-Seq_HELA_Human2.26291292
27POU3F2_20337985_ChIP-ChIP_501MEL_Human2.25681176
28* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.18102177
29PCGF2_27294783_Chip-Seq_NPCs_Mouse2.17863438
30* CTCF_27219007_Chip-Seq_Bcells_Human2.12938546
31NANOG_18555785_Chip-Seq_ESCs_Mouse2.11362935
32EZH2_27294783_Chip-Seq_NPCs_Mouse2.10991305
33TP63_19390658_ChIP-ChIP_HaCaT_Human2.07124523
34RXRA_24833708_ChIP-Seq_LIVER_Mouse2.04909974
35TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse2.03637055
36EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse2.01999315
37AR_21572438_ChIP-Seq_LNCaP_Human2.01677333
38EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.97888960
39STAT3_18555785_Chip-Seq_ESCs_Mouse1.97739726
40EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.95340943
41ERA_21632823_ChIP-Seq_H3396_Human1.94154997
42DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.93985024
43SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.93554784
44CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.90902492
45RARA_24833708_ChIP-Seq_LIVER_Mouse1.90792435
46BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.88434582
47CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.88420989
48RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.86339603
49SMC4_20622854_ChIP-Seq_HELA_Human1.85544539
50E2F1_18555785_Chip-Seq_ESCs_Mouse1.85253361
51SUZ12_18555785_Chip-Seq_ESCs_Mouse1.84907347
52RARB_24833708_ChIP-Seq_LIVER_Mouse1.84726761
53VDR_24763502_ChIP-Seq_THP-1_Human1.84530002
54NMYC_18555785_Chip-Seq_ESCs_Mouse1.82806866
55P53_22387025_ChIP-Seq_ESCs_Mouse1.82684594
56FOXM1_23109430_ChIP-Seq_U2OS_Human1.80686877
57EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.80413701
58LXR_22292898_ChIP-Seq_THP-1_Human1.80094718
59MAF_26560356_Chip-Seq_TH2_Human1.79490578
60TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.79226400
61FOXP1_21924763_ChIP-Seq_HESCs_Human1.76963696
62EGR1_23403033_ChIP-Seq_LIVER_Mouse1.76046493
63CMYC_18555785_Chip-Seq_ESCs_Mouse1.75049269
64SOX2_18555785_Chip-Seq_ESCs_Mouse1.74893215
65CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.74098260
66SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.73774345
67CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.73281308
68CTCF_21964334_Chip-Seq_Bcells_Human1.73096469
69* FUS_26573619_Chip-Seq_HEK293_Human1.72619983
70* P53_21459846_ChIP-Seq_SAOS-2_Human1.72375692
71NANOG_20526341_ChIP-Seq_ESCs_Human1.72280444
72MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.71451987
73OCT4_18555785_Chip-Seq_ESCs_Mouse1.70956094
74BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.68028319
75ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.67372749
76P300_18555785_Chip-Seq_ESCs_Mouse1.65265262
77* ZFX_18555785_Chip-Seq_ESCs_Mouse1.64706561
78KLF4_18555785_Chip-Seq_ESCs_Mouse1.63835960
79RNF2_27304074_Chip-Seq_NSC_Mouse1.63279447
80IGF1R_20145208_ChIP-Seq_DFB_Human1.63203910
81RUNX1_27457419_Chip-Seq_LIVER_Mouse1.62958699
82ESRRB_18555785_Chip-Seq_ESCs_Mouse1.61228983
83FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.60128415
84SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.55492827
85CTCF_18555785_Chip-Seq_ESCs_Mouse1.54844198
86AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.54713337
87TP53_22127205_ChIP-Seq_IMR90_Human1.54498487
88BMI1_23680149_ChIP-Seq_NPCS_Mouse1.53401843
89LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.53385509
90P300_19829295_ChIP-Seq_ESCs_Human1.53255314
91OCT4_20526341_ChIP-Seq_ESCs_Human1.52210420
92CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.48526975
93EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.48334347
94CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.47814703
95IKZF1_21737484_ChIP-ChIP_HCT116_Human1.47717020
96IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.47606874
97CTCF_21964334_ChIP-Seq_BJAB-B_Human1.46900995
98TAF2_19829295_ChIP-Seq_ESCs_Human1.45454533
99PU1_27457419_Chip-Seq_LIVER_Mouse1.45146232
100TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.43841639
101POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.43841639
102E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.43742823
103RARG_19884340_ChIP-ChIP_MEFs_Mouse1.42198947
104SMAD1_18555785_Chip-Seq_ESCs_Mouse1.41775926
105CTCF_27219007_Chip-Seq_ERYTHROID_Human1.41510582
106P300_27268052_Chip-Seq_Bcells_Human1.41377879
107MYC_19829295_ChIP-Seq_ESCs_Human1.39993982
108FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.39061723
109CRX_20693478_ChIP-Seq_RETINA_Mouse1.38262037
110* EWS_26573619_Chip-Seq_HEK293_Human1.37739673
111STAT3_23295773_ChIP-Seq_U87_Human1.37676667
112OCT4_21477851_ChIP-Seq_ESCs_Mouse1.37566407
113CTCF_20526341_ChIP-Seq_ESCs_Human1.37516504
114CBX2_27304074_Chip-Seq_ESCs_Mouse1.36703639
115* TAL1_26923725_Chip-Seq_HPCs_Mouse1.36604146
116NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse1.33592514
117OCT4_19829295_ChIP-Seq_ESCs_Human1.33284873
118E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.32525856
119DCP1A_22483619_ChIP-Seq_HELA_Human1.29634758
120TET1_21451524_ChIP-Seq_MESCs_Mouse1.28917198
121SMAD4_21799915_ChIP-Seq_A2780_Human1.28514965
122* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.27906684
123STAT1_17558387_ChIP-Seq_HELA_Human1.27691736
124IRF8_21731497_ChIP-ChIP_J774_Mouse1.26710180
125PKCTHETA_26484144_Chip-Seq_BREAST_Human1.26677317
126CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.26032872
127PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.25305270
128KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.25263262
129SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.25159922
130MAF_26560356_Chip-Seq_TH1_Human1.24948035
131YY1_22570637_ChIP-Seq_MALME-3M_Human1.24924004
132EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.24750543
133ELF1_20517297_ChIP-Seq_JURKAT_Human1.24580426
134E2F4_17652178_ChIP-ChIP_JURKAT_Human1.22897371
135KDM2B_26808549_Chip-Seq_REH_Human1.22565008
136GATA1_26923725_Chip-Seq_HPCs_Mouse1.22147604
137POU5F1_16153702_ChIP-ChIP_HESCs_Human1.21880213
138PIAS1_25552417_ChIP-Seq_VCAP_Human1.20991347
139WDR5_24793694_ChIP-Seq_LNCAP_Human1.20940124
140ETS1_21867929_ChIP-Seq_TH2_Mouse1.20883255
141IRF1_19129219_ChIP-ChIP_H3396_Human1.20770137
142CTBP2_25329375_ChIP-Seq_LNCAP_Human1.19957660
143RAC3_21632823_ChIP-Seq_H3396_Human1.18601123
144ERG_21242973_ChIP-ChIP_JURKAT_Human1.18278178
145EZH2_22144423_ChIP-Seq_EOC_Human1.16924324
146VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.16276450
147TP63_22573176_ChIP-Seq_HFKS_Human1.15272929
148SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.14293023
149TDRD3_21172665_ChIP-Seq_MCF-7_Human1.13030970
150TCF4_23295773_ChIP-Seq_U87_Human1.12854212
151GATA3_21878914_ChIP-Seq_MCF-7_Human1.12433040
152SA1_27219007_Chip-Seq_ERYTHROID_Human1.11984055
153* TBL1_22424771_ChIP-Seq_293T_Human1.11707425
154UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.11151430
155* TP53_22573176_ChIP-Seq_HFKS_Human1.10492641
156RUNX1_26923725_Chip-Seq_HPCs_Mouse1.09001620
157MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.07726353
158TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.05517953
159NCOR_22424771_ChIP-Seq_293T_Human1.02685153
160* NFYA_21822215_ChIP-Seq_K562_Human1.01826774
161JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.99094568
162CIITA_25753668_ChIP-Seq_RAJI_Human0.98802351
163RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.98520609
164ER_23166858_ChIP-Seq_MCF-7_Human0.98514342
165RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.97571429
166RACK7_27058665_Chip-Seq_MCF-7_Human0.96712268
167GATA3_21867929_ChIP-Seq_CD8_Mouse0.95873847
168* HOXB7_26014856_ChIP-Seq_BT474_Human0.95822600
169KLF4_19829295_ChIP-Seq_ESCs_Human0.95764236
170BCL6_25482012_ChIP-Seq_CML-JURL-MK1_Human0.95656639
171SA1_27219007_Chip-Seq_Bcells_Human0.95094734
172KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.94848254
173JUN_21703547_ChIP-Seq_K562_Human0.94481318
174* AR_25329375_ChIP-Seq_VCAP_Human0.94401436
175* HNFA_21074721_ChIP-Seq_CACO-2_Human0.94293606
176P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.94104954
177FOXM1_26456572_ChIP-Seq_MCF-7_Human0.93584081
178P63_26484246_Chip-Seq_KERATINOCYTES_Human0.93255241
179* ETV1_20927104_ChIP-Seq_GIST48_Human0.93167560
180PRDM14_20953172_ChIP-Seq_ESCs_Human0.92807807
181ATF3_27146783_Chip-Seq_COLON_Human0.92367706
182* PHF8_20622853_ChIP-Seq_HELA_Human0.92023372
183* NFYB_21822215_ChIP-Seq_K562_Human0.91104471
184VDR_22108803_ChIP-Seq_LS180_Human0.90917137
185CDX2_22108803_ChIP-Seq_LS180_Human0.90342222
186CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.89836947
187NOTCH1_21737748_ChIP-Seq_TLL_Human0.89672698
188JARID1A_20064375_ChIP-Seq_MESCs_Mouse0.89057587
189CREB1_26743006_Chip-Seq_LNCaP_Human0.86904699
190MITF_21258399_ChIP-Seq_MELANOMA_Human0.86025710

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0006292_abnormal_olfactory_placode4.49485828
2MP0005423_abnormal_somatic_nervous4.45727358
3MP0002102_abnormal_ear_morphology4.12513742
4MP0005451_abnormal_body_composition3.80524143
5MP0003718_maternal_effect3.21724402
6MP0008877_abnormal_DNA_methylation3.18155960
7MP0005409_darkened_coat_color3.11407920
8MP0008058_abnormal_DNA_repair3.05535774
9MP0000566_synostosis2.98883462
10MP0001188_hyperpigmentation2.83021277
11MP0003111_abnormal_nucleus_morphology2.79551392
12MP0003693_abnormal_embryo_hatching2.79523707
13MP0003646_muscle_fatigue2.77732928
14MP0003787_abnormal_imprinting2.76140047
15MP0003136_yellow_coat_color2.73742219
16MP0010094_abnormal_chromosome_stability2.66160950
17MP0001968_abnormal_touch/_nociception2.60810524
18MP0008057_abnormal_DNA_replication2.43327322
19MP0009697_abnormal_copulation2.14286783
20MP0001986_abnormal_taste_sensitivity2.12392494
21* MP0001119_abnormal_female_reproductive2.04854743
22MP0005083_abnormal_biliary_tract1.99434950
23MP0005646_abnormal_pituitary_gland1.97611513
24MP0003077_abnormal_cell_cycle1.96745613
25MP0002837_dystrophic_cardiac_calcinosis1.93033765
26MP0008875_abnormal_xenobiotic_pharmacok1.91396533
27MP0005171_absent_coat_pigmentation1.82642151
28MP0005551_abnormal_eye_electrophysiolog1.82073141
29* MP0002210_abnormal_sex_determination1.79149004
30MP0001756_abnormal_urination1.78211334
31MP0002653_abnormal_ependyma_morphology1.76886426
32* MP0001929_abnormal_gametogenesis1.76507834
33MP0008260_abnormal_autophagy1.73649485
34MP0000015_abnormal_ear_pigmentation1.63084444
35MP0004043_abnormal_pH_regulation1.62825115
36MP0005085_abnormal_gallbladder_physiolo1.59986718
37MP0002735_abnormal_chemical_nociception1.54676796
38MP0000751_myopathy1.53321033
39MP0004484_altered_response_of1.52378898
40MP0008007_abnormal_cellular_replicative1.52209925
41MP0004130_abnormal_muscle_cell1.52006996
42MP0002277_abnormal_respiratory_mucosa1.50804004
43MP0000490_abnormal_crypts_of1.48986034
44* MP0000653_abnormal_sex_gland1.48669286
45MP0008995_early_reproductive_senescence1.47435643
46MP0005395_other_phenotype1.45931364
47MP0002249_abnormal_larynx_morphology1.42883718
48MP0003121_genomic_imprinting1.42181175
49MP0003937_abnormal_limbs/digits/tail_de1.40294486
50MP0010386_abnormal_urinary_bladder1.39599297
51MP0005365_abnormal_bile_salt1.39196535
52MP0004782_abnormal_surfactant_physiolog1.38977893
53* MP0003699_abnormal_female_reproductive1.38737029
54MP0005332_abnormal_amino_acid1.32678624
55MP0004381_abnormal_hair_follicle1.31976553
56MP0000579_abnormal_nail_morphology1.30585617
57MP0003879_abnormal_hair_cell1.28638617
58MP0000569_abnormal_digit_pigmentation1.25711881
59MP0001324_abnormal_eye_pigmentation1.24135686
60MP0005330_cardiomyopathy1.23038035
61MP0002163_abnormal_gland_morphology1.22898627
62* MP0001145_abnormal_male_reproductive1.22797348
63MP0005647_abnormal_sex_gland1.22161253
64MP0005377_hearing/vestibular/ear_phenot1.21119274
65MP0003878_abnormal_ear_physiology1.21119274
66MP0005310_abnormal_salivary_gland1.20359367
67MP0003786_premature_aging1.20319861
68MP0005253_abnormal_eye_physiology1.18388297
69MP0002075_abnormal_coat/hair_pigmentati1.18101375
70MP0003195_calcinosis1.16327159
71MP0002638_abnormal_pupillary_reflex1.14329956
72MP0003045_fibrosis1.12696538
73* MP0003698_abnormal_male_reproductive1.12364844
74MP0005408_hypopigmentation1.10232108
75MP0001502_abnormal_circadian_rhythm1.07257706
76MP0000372_irregular_coat_pigmentation1.06440897
77MP0003941_abnormal_skin_development1.04201307
78MP0003315_abnormal_perineum_morphology1.00654843
79MP0000026_abnormal_inner_ear0.98709024
80MP0003763_abnormal_thymus_physiology0.97903804
81MP0003453_abnormal_keratinocyte_physiol0.97608426
82MP0001984_abnormal_olfaction0.97498452
83MP0001970_abnormal_pain_threshold0.97020915
84MP0008789_abnormal_olfactory_epithelium0.93809134
85MP0002396_abnormal_hematopoietic_system0.93560539
86MP0001529_abnormal_vocalization0.93457179
87MP0009643_abnormal_urine_homeostasis0.92072138
88MP0003890_abnormal_embryonic-extraembry0.91347571
89MP0001346_abnormal_lacrimal_gland0.91029771
90MP0002876_abnormal_thyroid_physiology0.90436978
91* MP0002161_abnormal_fertility/fecundity0.90204799
92MP0001661_extended_life_span0.89130154
93MP0004215_abnormal_myocardial_fiber0.88732414
94MP0000427_abnormal_hair_cycle0.88319196
95MP0002177_abnormal_outer_ear0.86290843
96MP0002095_abnormal_skin_pigmentation0.85953790
97MP0008932_abnormal_embryonic_tissue0.84096090
98MP0002160_abnormal_reproductive_system0.82835975
99MP0004233_abnormal_muscle_weight0.82714950
100MP0001835_abnormal_antigen_presentation0.82655547
101MP0005645_abnormal_hypothalamus_physiol0.81515792
102MP0002132_abnormal_respiratory_system0.81414004
103MP0002938_white_spotting0.81227087
104MP0003137_abnormal_impulse_conducting0.80168844
105MP0000750_abnormal_muscle_regeneration0.79479578
106MP0005584_abnormal_enzyme/coenzyme_acti0.78976217
107MP0005075_abnormal_melanosome_morpholog0.78902800
108MP0003705_abnormal_hypodermis_morpholog0.76149660
109MP0001186_pigmentation_phenotype0.74910465
110MP0005257_abnormal_intraocular_pressure0.74246533
111MP0005379_endocrine/exocrine_gland_phen0.73726570
112MP0005389_reproductive_system_phenotype0.73455140
113MP0000613_abnormal_salivary_gland0.73258047
114MP0001963_abnormal_hearing_physiology0.72988313
115MP0003755_abnormal_palate_morphology0.72394363
116MP0003011_delayed_dark_adaptation0.72297338
117MP0000371_diluted_coat_color0.71706899
118MP0000383_abnormal_hair_follicle0.71417269
119MP0002109_abnormal_limb_morphology0.70998256
120MP0005410_abnormal_fertilization0.70994980
121MP0000538_abnormal_urinary_bladder0.70986799
122MP0000432_abnormal_head_morphology0.70485514
123MP0005167_abnormal_blood-brain_barrier0.69884796
124MP0004957_abnormal_blastocyst_morpholog0.69387318
125MP0003938_abnormal_ear_development0.68520999
126MP0005671_abnormal_response_to0.68397819
127MP0005394_taste/olfaction_phenotype0.67907008
128MP0005499_abnormal_olfactory_system0.67907008
129MP0001765_abnormal_ion_homeostasis0.67349143
130MP0002233_abnormal_nose_morphology0.67331711
131MP0000747_muscle_weakness0.66752701
132MP0001486_abnormal_startle_reflex0.65869699
133MP0005174_abnormal_tail_pigmentation0.65697951
134MP0005076_abnormal_cell_differentiation0.65513480
135MP0002138_abnormal_hepatobiliary_system0.64893106
136MP0002928_abnormal_bile_duct0.64691331
137MP0001664_abnormal_digestion0.64206592
138MP0001919_abnormal_reproductive_system0.63511283
139MP0004808_abnormal_hematopoietic_stem0.63387603
140MP0008872_abnormal_physiological_respon0.63356299
141MP0001905_abnormal_dopamine_level0.62588342
142MP0002116_abnormal_craniofacial_bone0.61433911
143MP0009785_altered_susceptibility_to0.61265984
144MP0002736_abnormal_nociception_after0.61013104
145MP0009250_abnormal_appendicular_skeleto0.60931151
146MP0000013_abnormal_adipose_tissue0.60265451
147MP0002136_abnormal_kidney_physiology0.59272071
148MP0005084_abnormal_gallbladder_morpholo0.58946679
149MP0000367_abnormal_coat/_hair0.56902610
150MP0000470_abnormal_stomach_morphology0.56337717
151MP0005501_abnormal_skin_physiology0.54633028
152MP0005220_abnormal_exocrine_pancreas0.53859056
153MP0008770_decreased_survivor_rate0.53393905
154MP0001764_abnormal_homeostasis0.53208319
155MP0009764_decreased_sensitivity_to0.53046573
156MP0009745_abnormal_behavioral_response0.51775844
157MP0002254_reproductive_system_inflammat0.50569429
158MP0010771_integument_phenotype0.45880431
159MP0001958_emphysema0.45704612
160MP0003632_abnormal_nervous_system0.44227383
161MP0002168_other_aberrant_phenotype0.42778401
162MP0004147_increased_porphyrin_level0.42009122
163MP0000003_abnormal_adipose_tissue0.40133674
164MP0004019_abnormal_vitamin_homeostasis0.37751051
165MP0004197_abnormal_fetal_growth/weight/0.36860015

Predicted human phenotypes

RankGene SetZ-score
1Chromosomal breakage induced by crosslinking agents (HP:0003221)6.89646869
2Chromsome breakage (HP:0040012)6.35522990
3Congenital stationary night blindness (HP:0007642)6.28761499
4Attenuation of retinal blood vessels (HP:0007843)6.10208886
5Rib fusion (HP:0000902)5.76141093
6Testicular atrophy (HP:0000029)5.04946761
7Rectal fistula (HP:0100590)5.04246199
8Rectovaginal fistula (HP:0000143)5.04246199
9Poikiloderma (HP:0001029)4.92682551
10Decreased central vision (HP:0007663)4.82773695
11Bony spicule pigmentary retinopathy (HP:0007737)4.74500981
12Intestinal fistula (HP:0100819)4.67277088
13Choroideremia (HP:0001139)4.48268165
14Vaginal fistula (HP:0004320)4.45135903
15Prostate neoplasm (HP:0100787)4.37044441
16Dyschromatopsia (HP:0007641)4.36327352
17Ulnar bowing (HP:0003031)4.19127676
18Abnormality of the intrinsic pathway (HP:0010989)4.15266515
19Chorioretinal atrophy (HP:0000533)4.00034721
20Popliteal pterygium (HP:0009756)3.95212949
21Turricephaly (HP:0000262)3.89870093
22Aplasia/Hypoplasia involving the carpal bones (HP:0006502)3.88400274
23Annular pancreas (HP:0001734)3.88138209
24Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.87019992
25Facial diplegia (HP:0001349)3.82434993
26Aplasia/Hypoplasia of the uvula (HP:0010293)3.78759162
27Facial hemangioma (HP:0000329)3.77187303
28Coronal craniosynostosis (HP:0004440)3.75176916
29Prolonged partial thromboplastin time (HP:0003645)3.74755857
30Akinesia (HP:0002304)3.73368709
31Birth length less than 3rd percentile (HP:0003561)3.67502916
32Thin bony cortex (HP:0002753)3.65749714
33Squamous cell carcinoma (HP:0002860)3.64339300
34Short chin (HP:0000331)3.58078392
35Abnormality of the preputium (HP:0100587)3.49810522
36Meckel diverticulum (HP:0002245)3.46937442
37Flat occiput (HP:0005469)3.40658709
38Abnormality of chromosome stability (HP:0003220)3.38971788
39Aplasia of the musculature (HP:0100854)3.36986883
40Clubbing of toes (HP:0100760)3.36276052
41Hypoalbuminemia (HP:0003073)3.35146332
42Abnormal albumin level (HP:0012116)3.35146332
43Mesangial abnormality (HP:0001966)3.34902328
44Fetal akinesia sequence (HP:0001989)3.33423417
45Abnormality of the ileum (HP:0001549)3.29992417
46Joint hemorrhage (HP:0005261)3.23131661
47Decreased circulating renin level (HP:0003351)3.20440783
48Papillary thyroid carcinoma (HP:0002895)3.19151752
49Male infertility (HP:0003251)3.09210351
50Ectopic kidney (HP:0000086)3.06261808
51Abnormality of the costochondral junction (HP:0000919)3.02215156
52Abnormality of placental membranes (HP:0011409)2.94847303
53Amniotic constriction ring (HP:0009775)2.94847303
54Hypoplasia of the fovea (HP:0007750)2.94331341
55Aplasia/Hypoplasia of the fovea (HP:0008060)2.94331341
56Pendular nystagmus (HP:0012043)2.91797047
57Polydipsia (HP:0001959)2.91770234
58Abnormal drinking behavior (HP:0030082)2.91770234
59Optic neuritis (HP:0100653)2.87090793
60Retrobulbar optic neuritis (HP:0100654)2.87090793
61Atrioventricular block (HP:0001678)2.79926564
62Abnormality of the renal collecting system (HP:0004742)2.76834163
63Hypoplasia of the pons (HP:0012110)2.72787648
64Duplicated collecting system (HP:0000081)2.72405447
65Pancreatic fibrosis (HP:0100732)2.69935790
66Hypophosphatemic rickets (HP:0004912)2.69442697
67Anteriorly placed anus (HP:0001545)2.67450851
68Abnormality of the hepatic vasculature (HP:0006707)2.67371551
69True hermaphroditism (HP:0010459)2.65484614
70Delayed epiphyseal ossification (HP:0002663)2.62874439
71Patellar aplasia (HP:0006443)2.61133412
72Lip pit (HP:0100267)2.59624688
73Adrenal hypoplasia (HP:0000835)2.59333802
74Myotonia (HP:0002486)2.56041043
75Decreased electroretinogram (ERG) amplitude (HP:0000654)2.55101129
76Abnormality of the pons (HP:0007361)2.54485968
77Widely patent fontanelles and sutures (HP:0004492)2.54118828
78Abnormality of the prostate (HP:0008775)2.50571619
79Pancreatic cysts (HP:0001737)2.50483327
80Enlarged epiphyses (HP:0010580)2.49114552
81Small intestinal stenosis (HP:0012848)2.48666877
82Duodenal stenosis (HP:0100867)2.48666877
83Abnormality of the fingertips (HP:0001211)2.47729251
84Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.46625257
85Tubular atrophy (HP:0000092)2.45570071
86Abnormality of DNA repair (HP:0003254)2.44273629
87Abnormality of the fovea (HP:0000493)2.42696959
88Febrile seizures (HP:0002373)2.42164341
89Abnormality of the carotid arteries (HP:0005344)2.41562060
90Premature graying of hair (HP:0002216)2.40292324
91Flat capital femoral epiphysis (HP:0003370)2.40263907
92Neonatal respiratory distress (HP:0002643)2.40242214
93Hemorrhage of the eye (HP:0011885)2.39327623
94Aplasia/Hypoplasia of the patella (HP:0006498)2.39146223
95Increased number of teeth (HP:0011069)2.37812064
96Basal cell carcinoma (HP:0002671)2.32634864
97Azoospermia (HP:0000027)2.32479880
98Absent thumb (HP:0009777)2.31623948
99Abnormal respiratory motile cilium physiology (HP:0012261)2.28277844
100Abnormal hair whorl (HP:0010721)2.28110536
101Acanthocytosis (HP:0001927)2.26626798
102Small hand (HP:0200055)2.26139394
103Abnormal spermatogenesis (HP:0008669)2.24003355
104Nephroblastoma (Wilms tumor) (HP:0002667)2.21798099
105Acute myeloid leukemia (HP:0004808)2.19791366
106Lipid accumulation in hepatocytes (HP:0006561)2.19097510
107Reduced antithrombin III activity (HP:0001976)2.17291232
108Renal Fanconi syndrome (HP:0001994)2.16590319
109Hypergonadotropic hypogonadism (HP:0000815)2.16527220
110Breast hypoplasia (HP:0003187)2.16468280
111Capillary hemangiomas (HP:0005306)2.16096882
112Abnormality of incisor morphology (HP:0011063)2.13808465
113Supernumerary spleens (HP:0009799)2.13531433
114Cystic hygroma (HP:0000476)2.12547140
115Polyuria (HP:0000103)2.11563621
116Choanal stenosis (HP:0000452)2.10179848
117Embryonal renal neoplasm (HP:0011794)2.08313733
118Short thumb (HP:0009778)2.07639930
119Breast aplasia (HP:0100783)2.06898250
120Type 2 muscle fiber atrophy (HP:0003554)2.05154683
121Oligodactyly (hands) (HP:0001180)2.03438529
122Absent forearm bone (HP:0003953)2.02820235
123Aplasia involving forearm bones (HP:0009822)2.02820235
124Myelodysplasia (HP:0002863)2.01959095
125Nephronophthisis (HP:0000090)2.00927948
126Bowed forearm bones (HP:0003956)2.00387218
127Bowing of the arm (HP:0006488)2.00387218
128Fair hair (HP:0002286)2.00108739
129Medial flaring of the eyebrow (HP:0010747)1.99629993
130Sloping forehead (HP:0000340)1.99042322
131Bone marrow hypocellularity (HP:0005528)1.98703044
132Aplasia/Hypoplasia of the breasts (HP:0010311)1.98590030
133Abnormality of male internal genitalia (HP:0000022)1.97709407
134Aplasia/Hypoplasia involving the musculature (HP:0001460)1.95626375
135Postaxial foot polydactyly (HP:0001830)1.94204211
136Cerebellar dysplasia (HP:0007033)1.93977589
137Rectal prolapse (HP:0002035)1.93631157
138Abnormality of the duodenum (HP:0002246)1.93148986
139Septo-optic dysplasia (HP:0100842)1.92810117
140Tubulointerstitial nephritis (HP:0001970)1.92750593
141Patchy hypopigmentation of hair (HP:0011365)1.92227706
142Abnormality of the phalanges of the hallux (HP:0010057)1.91685742
143Amelogenesis imperfecta (HP:0000705)1.91179864
144Horizontal nystagmus (HP:0000666)1.90941630
145Orchitis (HP:0100796)1.90929776
146Preaxial hand polydactyly (HP:0001177)1.90736673
147Abnormality of the renal medulla (HP:0100957)1.89665226
148Molar tooth sign on MRI (HP:0002419)1.88418743
149Abnormality of midbrain morphology (HP:0002418)1.88418743
150Nonprogressive disorder (HP:0003680)1.87909158
151Male pseudohermaphroditism (HP:0000037)1.87353328
152Narrow nasal bridge (HP:0000446)1.86302332
153Abnormality of the labia minora (HP:0012880)1.86094352
154Hyperkalemia (HP:0002153)1.85767067
155Abnormal rod and cone electroretinograms (HP:0008323)1.85470197
156Abnormal urine output (HP:0012590)1.85152928
157Chronic hepatic failure (HP:0100626)1.84030175
158Ocular albinism (HP:0001107)1.83705535
159Aplasia/Hypoplasia of the macula (HP:0008059)1.83482031
160Renal cortical cysts (HP:0000803)1.83285217
161Shawl scrotum (HP:0000049)1.82486948
162White forelock (HP:0002211)1.82436977
163Malignant hyperthermia (HP:0002047)1.82328924
164Diminished movement (HP:0002374)1.81968199
165Macular degeneration (HP:0000608)1.81892806
166Astigmatism (HP:0000483)1.81388707
167Nephrogenic diabetes insipidus (HP:0009806)1.81049934
168Increased hepatocellular lipid droplets (HP:0006565)1.80797075
169Poor coordination (HP:0002370)1.80551952
170Retinitis pigmentosa (HP:0000510)1.80303224
171Congenital primary aphakia (HP:0007707)1.79923949
172Dynein arm defect of respiratory motile cilia (HP:0012255)1.78519210
173Absent/shortened dynein arms (HP:0200106)1.78519210
174Absent septum pellucidum (HP:0001331)1.78355279
175Short humerus (HP:0005792)1.78194877
176Triphalangeal thumb (HP:0001199)1.77015052
177Abnormal ciliary motility (HP:0012262)1.76453892
178Oligohydramnios (HP:0001562)1.75786483
179Congenital sensorineural hearing impairment (HP:0008527)1.74412599
180Photophobia (HP:0000613)1.73632827
181Aplasia/Hypoplasia of the tongue (HP:0010295)1.72574138
182Impulsivity (HP:0100710)1.71575919
183Thin ribs (HP:0000883)1.71557944
184Neonatal onset (HP:0003623)1.71518311
185Congenital hepatic fibrosis (HP:0002612)1.69387420
186Hypoplastic iliac wings (HP:0002866)1.68748455
187Generalized hypopigmentation of hair (HP:0011358)1.67881292
188Gait imbalance (HP:0002141)1.67364811
189Abnormality of the renal cortex (HP:0011035)1.66972134
190Aganglionic megacolon (HP:0002251)1.66682727
191Abnormality of the septum pellucidum (HP:0007375)1.65495581
192Absent radius (HP:0003974)1.65058625

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAPK156.47158089
2BLK6.38654760
3STK38L4.16587913
4WNK44.07558359
5LATS13.95760723
6FRK3.67162851
7PLK43.34394861
8MUSK3.34348509
9MAP3K62.77788690
10ERBB42.58019981
11ZAK2.54693646
12LATS22.45621369
13SRPK12.26062294
14CDK82.09221392
15MAP3K92.08860912
16CASK1.98708812
17PDPK11.95504178
18CAMKK21.94271133
19TXK1.89550131
20TTK1.87369842
21EIF2AK21.75844926
22STK31.70253053
23TNIK1.69812002
24TLK11.68628228
25NUAK11.64188441
26MAP2K71.64061694
27TAOK31.63232493
28CDK31.56612059
29CDC71.55766033
30BRAF1.52587368
31MAPK131.52168240
32CHEK21.52157032
33BMPR21.46936626
34SGK21.41962246
35MAP3K131.41739256
36ADRBK11.41666238
37BMPR1B1.37478527
38VRK11.28873478
39MAP3K141.27256605
40IRAK31.25202821
41MKNK21.22965986
42NEK61.22274291
43NLK1.21660475
44WNK11.19944166
45STK381.18760733
46DAPK21.10913503
47STK161.09906022
48JAK31.09291276
49PLK11.06446524
50DYRK21.05016622
51STK391.04735537
52EPHA41.04101595
53CDK121.03977556
54TRPM71.03593798
55STK241.02977875
56IRAK41.01652898
57CDK91.00952375
58AKT30.97046830
59INSRR0.96487313
60SIK20.91669557
61PRKD10.91338513
62PDK10.90320273
63PRPF4B0.89276710
64GRK60.88893860
65ATR0.88179886
66TESK20.87156622
67PINK10.87048629
68YES10.86754109
69MELK0.83522826
70CHUK0.83152064
71PLK30.80910712
72NEK20.74084060
73BMX0.73131499
74PRKAA20.71451850
75SGK30.71167108
76PRKD20.69892750
77CAMK40.68629604
78ATM0.67871060
79GRK10.67129801
80SGK2230.66137709
81SGK4940.66137709
82TEC0.66049161
83IKBKB0.65902672
84CAMK1G0.65659032
85BRD40.64146679
86ACVR1B0.63978256
87RAF10.62093882
88AURKB0.59553941
89TGFBR10.59494895
90PRKAA10.57113962
91PIK3CG0.56824829
92CDK40.55439049
93SIK30.55250838
94PIM10.54564784
95PDK20.53212126
96IKBKE0.53101864
97OXSR10.51600654
98CHEK10.51249425
99STK40.51230038
100ADRBK20.49905886
101STK110.49586486
102MST1R0.48896565
103WNK30.48200069
104MAP3K40.47537546
105ABL10.47064892
106MAPKAPK30.46933797
107CCNB10.46441975
108CDK70.46434588
109MAP2K40.46144045
110EEF2K0.45128422
111RPS6KA60.45013056
112TAOK10.44316456
113NEK90.43780996
114MAP3K50.43477624
115ABL20.43325430
116PRKD30.43058910
117CSNK1D0.42160343
118PIK3CA0.41685300
119CSNK1G10.40985063
120MKNK10.40819028
121KSR20.40258520
122RPS6KA20.40035283
123EPHA30.39607509
124PKN10.38836799
125MAP2K30.37543173
126MAPK70.36335764
127MAPK110.35915040
128TNK20.35900157
129PLK20.35631864
130DYRK30.34857422
131DMPK0.34651913
132MAP2K60.33863888
133KIT0.33418616
134NTRK20.33386995
135CAMK1D0.33348752
136MOS0.33277195
137EIF2AK10.33078849
138BRSK20.32859126
139RPS6KA50.31936418
140EIF2AK30.30839305
141ARAF0.30265557
142CAMKK10.28254537
143CDK60.27448702
144MAPKAPK50.27360539
145RPS6KC10.26342288
146RPS6KL10.26342288
147RPS6KA40.26319143
148PIM20.25883877
149CDK150.25689972
150MARK30.24738086
151TRIM280.23624780
152CDK180.23586807
153IRAK20.23335647
154MAP3K20.21784405
155HIPK20.21095241
156ROCK10.20965762
157CAMK10.19231246
158CDK10.19201527
159MAP2K10.19015603
160MAPK80.18680064
161CDK11A0.18236992

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006046.99849531
2Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001305.60445784
3Sulfur relay system_Homo sapiens_hsa041224.76224733
4Fanconi anemia pathway_Homo sapiens_hsa034603.84350779
5Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005333.19137875
6Basal transcription factors_Homo sapiens_hsa030223.05474644
7Homologous recombination_Homo sapiens_hsa034402.87660970
8Cell cycle_Homo sapiens_hsa041102.70562839
9Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.41584885
10Vitamin B6 metabolism_Homo sapiens_hsa007502.30024786
11RNA degradation_Homo sapiens_hsa030182.22943463
12Non-homologous end-joining_Homo sapiens_hsa034502.00873324
13Circadian rhythm_Homo sapiens_hsa047101.99436551
14RNA polymerase_Homo sapiens_hsa030201.85035835
15Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.80269811
16Ovarian steroidogenesis_Homo sapiens_hsa049131.73678704
17Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.70181622
18NF-kappa B signaling pathway_Homo sapiens_hsa040641.68649029
19Base excision repair_Homo sapiens_hsa034101.62188154
20Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.59894283
21Sphingolipid metabolism_Homo sapiens_hsa006001.59656533
22Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.54572260
23Other glycan degradation_Homo sapiens_hsa005111.52713877
24Fructose and mannose metabolism_Homo sapiens_hsa000511.52524327
25Herpes simplex infection_Homo sapiens_hsa051681.51209876
26p53 signaling pathway_Homo sapiens_hsa041151.48778369
27Glycosaminoglycan degradation_Homo sapiens_hsa005311.47690496
28Intestinal immune network for IgA production_Homo sapiens_hsa046721.43277664
29Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.40070083
30Ether lipid metabolism_Homo sapiens_hsa005651.39537605
31Graft-versus-host disease_Homo sapiens_hsa053321.36768743
32NOD-like receptor signaling pathway_Homo sapiens_hsa046211.32826850
33alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.32126549
34Arachidonic acid metabolism_Homo sapiens_hsa005901.29948195
35Pyruvate metabolism_Homo sapiens_hsa006201.29876196
36Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.29332278
37Mismatch repair_Homo sapiens_hsa034301.29088636
38Linoleic acid metabolism_Homo sapiens_hsa005911.29033156
39Nucleotide excision repair_Homo sapiens_hsa034201.26639555
40Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.20760359
41Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.17674698
42Measles_Homo sapiens_hsa051621.15748695
43Fatty acid degradation_Homo sapiens_hsa000711.11791051
44Hedgehog signaling pathway_Homo sapiens_hsa043401.10556513
45TGF-beta signaling pathway_Homo sapiens_hsa043501.10087392
46Calcium signaling pathway_Homo sapiens_hsa040201.09961234
47Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.09011149
48DNA replication_Homo sapiens_hsa030301.08039398
49Autoimmune thyroid disease_Homo sapiens_hsa053201.04911437
50RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.04649251
51Vitamin digestion and absorption_Homo sapiens_hsa049771.01410711
52Purine metabolism_Homo sapiens_hsa002301.01206775
53Nicotine addiction_Homo sapiens_hsa050331.00812459
54TNF signaling pathway_Homo sapiens_hsa046680.99175696
55Influenza A_Homo sapiens_hsa051640.98872757
56Pyrimidine metabolism_Homo sapiens_hsa002400.98631323
57Toll-like receptor signaling pathway_Homo sapiens_hsa046200.98389285
58Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.96952608
59Nitrogen metabolism_Homo sapiens_hsa009100.96297802
60Hematopoietic cell lineage_Homo sapiens_hsa046400.96162149
61Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.96139386
62mRNA surveillance pathway_Homo sapiens_hsa030150.95584969
63Pancreatic cancer_Homo sapiens_hsa052120.95533540
64Allograft rejection_Homo sapiens_hsa053300.94976000
65Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.92701304
66Morphine addiction_Homo sapiens_hsa050320.90949175
67Jak-STAT signaling pathway_Homo sapiens_hsa046300.89943403
68RNA transport_Homo sapiens_hsa030130.89741595
69Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.89677946
70Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.87998816
71Transcriptional misregulation in cancer_Homo sapiens_hsa052020.86659496
72One carbon pool by folate_Homo sapiens_hsa006700.79621965
73Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.79398587
74Inositol phosphate metabolism_Homo sapiens_hsa005620.79394579
75Prolactin signaling pathway_Homo sapiens_hsa049170.78724541
76Caffeine metabolism_Homo sapiens_hsa002320.78523824
77Leishmaniasis_Homo sapiens_hsa051400.77584549
78MicroRNAs in cancer_Homo sapiens_hsa052060.77433108
79Rheumatoid arthritis_Homo sapiens_hsa053230.75674474
80Tryptophan metabolism_Homo sapiens_hsa003800.74366687
81Malaria_Homo sapiens_hsa051440.73863967
82Selenocompound metabolism_Homo sapiens_hsa004500.73408815
83Glutamatergic synapse_Homo sapiens_hsa047240.71191890
84Hepatitis B_Homo sapiens_hsa051610.70931672
85Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.70249008
86FoxO signaling pathway_Homo sapiens_hsa040680.66073987
87Primary immunodeficiency_Homo sapiens_hsa053400.65264962
88Lysine degradation_Homo sapiens_hsa003100.64870936
89Primary bile acid biosynthesis_Homo sapiens_hsa001200.64852906
90Taste transduction_Homo sapiens_hsa047420.64616092
91Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.61184533
92PPAR signaling pathway_Homo sapiens_hsa033200.60203294
93Carbohydrate digestion and absorption_Homo sapiens_hsa049730.59506405
94Choline metabolism in cancer_Homo sapiens_hsa052310.59147050
95Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.58718759
96Notch signaling pathway_Homo sapiens_hsa043300.58376153
97Propanoate metabolism_Homo sapiens_hsa006400.56197777
98Regulation of autophagy_Homo sapiens_hsa041400.54782898
99Phosphatidylinositol signaling system_Homo sapiens_hsa040700.52874688
100Type I diabetes mellitus_Homo sapiens_hsa049400.52805351
101Arginine biosynthesis_Homo sapiens_hsa002200.52720320
102Fatty acid metabolism_Homo sapiens_hsa012120.52574849
103Asthma_Homo sapiens_hsa053100.52534844
104Cysteine and methionine metabolism_Homo sapiens_hsa002700.52480886
105Epstein-Barr virus infection_Homo sapiens_hsa051690.52410520
106Phototransduction_Homo sapiens_hsa047440.50987745
107Small cell lung cancer_Homo sapiens_hsa052220.50973122
108Melanogenesis_Homo sapiens_hsa049160.50461907
109HTLV-I infection_Homo sapiens_hsa051660.50257197
110Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.49262328
111Basal cell carcinoma_Homo sapiens_hsa052170.48590214
112Oocyte meiosis_Homo sapiens_hsa041140.48173090
113Serotonergic synapse_Homo sapiens_hsa047260.47917068
114Colorectal cancer_Homo sapiens_hsa052100.47718365
115Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.46777842
116ABC transporters_Homo sapiens_hsa020100.46549739
117Glycerophospholipid metabolism_Homo sapiens_hsa005640.46316151
118Steroid hormone biosynthesis_Homo sapiens_hsa001400.45915204
119Cocaine addiction_Homo sapiens_hsa050300.44831188
120Chemokine signaling pathway_Homo sapiens_hsa040620.44510109
121Prostate cancer_Homo sapiens_hsa052150.44066868
122Maturity onset diabetes of the young_Homo sapiens_hsa049500.42887872
123Wnt signaling pathway_Homo sapiens_hsa043100.41285204
124GABAergic synapse_Homo sapiens_hsa047270.40948922
125Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.40800790
126Ras signaling pathway_Homo sapiens_hsa040140.39854366
127Retinol metabolism_Homo sapiens_hsa008300.38636680
128Hippo signaling pathway_Homo sapiens_hsa043900.37580753
129Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.37258553
130Tuberculosis_Homo sapiens_hsa051520.36995036
131Chemical carcinogenesis_Homo sapiens_hsa052040.36747428
132Bile secretion_Homo sapiens_hsa049760.36740488
133Apoptosis_Homo sapiens_hsa042100.36414564
134Dorso-ventral axis formation_Homo sapiens_hsa043200.36279899
135Glycerolipid metabolism_Homo sapiens_hsa005610.35653929
136Glucagon signaling pathway_Homo sapiens_hsa049220.34452823
137Alcoholism_Homo sapiens_hsa050340.33650172
138Osteoclast differentiation_Homo sapiens_hsa043800.33620522
139MAPK signaling pathway_Homo sapiens_hsa040100.33605899
140Sulfur metabolism_Homo sapiens_hsa009200.33484468
141Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.33219983
142Fat digestion and absorption_Homo sapiens_hsa049750.32687791
143Circadian entrainment_Homo sapiens_hsa047130.32322358
144Aldosterone synthesis and secretion_Homo sapiens_hsa049250.32053118
145mTOR signaling pathway_Homo sapiens_hsa041500.31800743
146Adherens junction_Homo sapiens_hsa045200.31711139
147Thyroid hormone signaling pathway_Homo sapiens_hsa049190.31611024
148cAMP signaling pathway_Homo sapiens_hsa040240.30905636
149Metabolic pathways_Homo sapiens_hsa011000.30408247
150Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.29333693
1512-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.29056432
152Histidine metabolism_Homo sapiens_hsa003400.28180880
153Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.28149280
154Adipocytokine signaling pathway_Homo sapiens_hsa049200.25539090
155Longevity regulating pathway - mammal_Homo sapiens_hsa042110.24504642
156VEGF signaling pathway_Homo sapiens_hsa043700.24269974
157Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.24251512
158Cholinergic synapse_Homo sapiens_hsa047250.24201327
159Lysosome_Homo sapiens_hsa041420.23341040
160Insulin resistance_Homo sapiens_hsa049310.22000774
161Cyanoamino acid metabolism_Homo sapiens_hsa004600.21558653
162Gap junction_Homo sapiens_hsa045400.21374389
163Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.21082537
164N-Glycan biosynthesis_Homo sapiens_hsa005100.19701805

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