ERMARD

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





Description: The protein encoded by this gene contains 2 transmembrane domains near the C-terminus and is localized in the endoplasmic reticulum. Knockout of this gene in developing rat brain showed that it may be involved in neuronal migration. Mutations in this gene are associated with periventricular nodular heterotopia-6 (PVNH6). Alternatively spliced transcript variants have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1lens fiber cell development (GO:0070307)8.93367384
2regulation of isotype switching to IgG isotypes (GO:0048302)7.35278258
3regulation of telomere maintenance via telomerase (GO:0032210)5.92556125
4dopamine transport (GO:0015872)5.57286016
5activated T cell proliferation (GO:0050798)5.02801660
6nucleobase biosynthetic process (GO:0046112)5.00075648
7doxorubicin metabolic process (GO:0044598)4.95199804
8daunorubicin metabolic process (GO:0044597)4.95199804
9polyketide metabolic process (GO:0030638)4.95199804
10base-excision repair, AP site formation (GO:0006285)4.89007640
11organic cation transport (GO:0015695)4.83119630
12pyrimidine ribonucleoside monophosphate biosynthetic process (GO:0009174)4.81589677
13UMP metabolic process (GO:0046049)4.81589677
14pyrimidine ribonucleoside monophosphate metabolic process (GO:0009173)4.81589677
15UMP biosynthetic process (GO:0006222)4.81589677
16positive regulation of DNA recombination (GO:0045911)4.78481655
17positive regulation of isotype switching (GO:0045830)4.72842548
18arginine catabolic process (GO:0006527)4.69557041
19regulation of helicase activity (GO:0051095)4.68705282
20valine metabolic process (GO:0006573)4.60505956
21antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.56846370
22histone H3-K4 trimethylation (GO:0080182)4.56656910
23positive regulation of gamma-delta T cell activation (GO:0046645)4.47910060
24leukotriene biosynthetic process (GO:0019370)4.45973590
25DNA damage induced protein phosphorylation (GO:0006975)4.44336851
26protein localization to cilium (GO:0061512)4.43630406
27toxin transport (GO:1901998)4.43439255
28regulation of hexokinase activity (GO:1903299)4.37738914
29regulation of glucokinase activity (GO:0033131)4.37738914
30regulation of histone H3-K27 methylation (GO:0061085)4.25309471
31intraciliary transport (GO:0042073)4.24649799
32platelet dense granule organization (GO:0060155)4.12206335
33negative regulation of telomere maintenance (GO:0032205)4.08706883
34pyrimidine nucleoside monophosphate biosynthetic process (GO:0009130)4.08182198
35synapsis (GO:0007129)4.06716666
36histamine transport (GO:0051608)3.92937797
37regulation of cilium movement (GO:0003352)3.87291361
38NIK/NF-kappaB signaling (GO:0038061)3.86340597
39ovulation from ovarian follicle (GO:0001542)3.84535054
40neural tube formation (GO:0001841)3.81520277
41pyrimidine nucleoside monophosphate metabolic process (GO:0009129)3.81042977
42DNA demethylation (GO:0080111)3.76137198
43positive regulation of B cell differentiation (GO:0045579)3.75676934
44axoneme assembly (GO:0035082)3.70035232
45negative regulation of telomerase activity (GO:0051974)3.70021936
46neurotransmitter uptake (GO:0001504)3.68501386
47mitochondrial respiratory chain complex I assembly (GO:0032981)3.64671121
48NADH dehydrogenase complex assembly (GO:0010257)3.64671121
49mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.64671121
50cellular response to interferon-beta (GO:0035458)3.63328308
51piRNA metabolic process (GO:0034587)3.57106311
52epithelial cilium movement (GO:0003351)3.54080549
53definitive hemopoiesis (GO:0060216)3.54039084
54meiotic chromosome segregation (GO:0045132)3.53676585
55protein complex biogenesis (GO:0070271)3.49803321
56pyrimidine ribonucleoside biosynthetic process (GO:0046132)3.49247130
57drug transmembrane transport (GO:0006855)3.48950089
58histone H3-K4 methylation (GO:0051568)3.44621240
59regulation of meiosis I (GO:0060631)3.40192078
60resolution of meiotic recombination intermediates (GO:0000712)3.38892368
61aminoglycoside antibiotic metabolic process (GO:0030647)3.33846975
62regulation of telomere maintenance (GO:0032204)3.29863004
63positive regulation of cellular amide metabolic process (GO:0034250)3.29041829
64regulation of interferon-beta biosynthetic process (GO:0045357)3.28590543
65positive regulation of interferon-alpha production (GO:0032727)3.27504851
66protein polyglutamylation (GO:0018095)3.27150026
67pyrimidine ribonucleotide biosynthetic process (GO:0009220)3.25648526
68catecholamine transport (GO:0051937)3.24399518
69heparin biosynthetic process (GO:0030210)3.24364571
70heparin metabolic process (GO:0030202)3.24364571
71pyrimidine nucleobase metabolic process (GO:0006206)3.22526158
72pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.19128414
73positive regulation of respiratory burst (GO:0060267)3.18889143
74fructose metabolic process (GO:0006000)3.18546736
75I-kappaB phosphorylation (GO:0007252)3.16324367
76C4-dicarboxylate transport (GO:0015740)3.14295739
77positive regulation of B cell mediated immunity (GO:0002714)3.11803419
78positive regulation of immunoglobulin mediated immune response (GO:0002891)3.11803419
79regulation of NFAT protein import into nucleus (GO:0051532)3.11059377
80mitochondrial respiratory chain complex assembly (GO:0033108)3.10826941
81branched-chain amino acid metabolic process (GO:0009081)3.10370755
82mast cell activation involved in immune response (GO:0002279)3.07787723
83mast cell degranulation (GO:0043303)3.07787723
84intra-S DNA damage checkpoint (GO:0031573)3.07656022
85cellular response to zinc ion (GO:0071294)3.06742976
86interferon-gamma production (GO:0032609)3.05174879
87indole-containing compound catabolic process (GO:0042436)3.03404245
88indolalkylamine catabolic process (GO:0046218)3.03404245
89tryptophan catabolic process (GO:0006569)3.03404245
90peptidyl-lysine trimethylation (GO:0018023)3.01636312
91regulation of interferon-alpha production (GO:0032647)3.01608678
92tryptophan metabolic process (GO:0006568)3.01214140
93epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.99993712
94regulation of activation of Janus kinase activity (GO:0010533)2.99066607
95pyrimidine nucleoside biosynthetic process (GO:0046134)2.98251601
96regulation of B cell differentiation (GO:0045577)2.97045672
97pyrimidine ribonucleotide metabolic process (GO:0009218)2.96678809
98quaternary ammonium group transport (GO:0015697)2.96647773
99regulation of gamma-delta T cell activation (GO:0046643)2.95690921
100NAD biosynthetic process (GO:0009435)2.93352785
101protein deneddylation (GO:0000338)2.91891186
102ATP synthesis coupled proton transport (GO:0015986)2.91817936
103energy coupled proton transport, down electrochemical gradient (GO:0015985)2.91817936
104cullin deneddylation (GO:0010388)2.91739603
105regulation of B cell receptor signaling pathway (GO:0050855)2.90980275
106branched-chain amino acid catabolic process (GO:0009083)2.90944591
107GTP biosynthetic process (GO:0006183)2.89550919
108positive regulation of histone H3-K4 methylation (GO:0051571)2.88833904
109reciprocal DNA recombination (GO:0035825)2.88622556
110reciprocal meiotic recombination (GO:0007131)2.88622556
111DNA strand renaturation (GO:0000733)2.88592362
112exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.88581760
113male meiosis I (GO:0007141)2.88556123
114azole transport (GO:0045117)2.86972343
115histone mRNA catabolic process (GO:0071044)2.86340209
116cilium movement (GO:0003341)2.86153840
117fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)2.84638785
118DNA methylation involved in gamete generation (GO:0043046)2.84379908
119positive regulation of T cell cytokine production (GO:0002726)2.83561229
120muscle atrophy (GO:0014889)2.82862568
121regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900151)2.80718645
122positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO2.80718645
123face development (GO:0060324)2.79551276
124DNA dealkylation (GO:0035510)2.79506453
125histone H2A ubiquitination (GO:0033522)2.79358009
126regulation of gamma-delta T cell differentiation (GO:0045586)2.79191510
127lysosome localization (GO:0032418)2.79034553
128regulation of telomerase activity (GO:0051972)2.78869001
129regulation of isotype switching (GO:0045191)2.78561278
130nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.78312235
131regulation of protein polyubiquitination (GO:1902914)2.78125598
132negative regulation of DNA-dependent DNA replication (GO:2000104)2.72914222
133energy homeostasis (GO:0097009)2.71973705
134purine nucleotide salvage (GO:0032261)2.71507277
135DNA damage response, detection of DNA damage (GO:0042769)2.70822566
136negative thymic T cell selection (GO:0045060)2.69837453
137monoamine transport (GO:0015844)2.68387503
138kidney morphogenesis (GO:0060993)2.68255266
139response to type I interferon (GO:0034340)2.68014564
140positive regulation of antigen processing and presentation (GO:0002579)2.67628732
141positive regulation of meiosis (GO:0045836)2.67360962
142positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)2.66730596
143regulation of appetite (GO:0032098)2.66163131
144regulation of alternative mRNA splicing, via spliceosome (GO:0000381)2.65705746
145regulation of protein homodimerization activity (GO:0043496)2.65633551
146type I interferon signaling pathway (GO:0060337)2.64254358
147cellular response to type I interferon (GO:0071357)2.64254358
148amyloid precursor protein catabolic process (GO:0042987)2.63848369
149mismatch repair (GO:0006298)2.63406415
150fibroblast migration (GO:0010761)2.63334428
151detection of other organism (GO:0098543)2.63085204
152pyrimidine nucleotide biosynthetic process (GO:0006221)2.62981259
153estrogen biosynthetic process (GO:0006703)2.61577371
154pyrimidine nucleotide catabolic process (GO:0006244)2.58257845
155positive regulation of defense response to virus by host (GO:0002230)2.57175745
156pyrimidine nucleoside metabolic process (GO:0006213)2.56930797
157negative T cell selection (GO:0043383)2.56833891
158antigen processing and presentation of endogenous antigen (GO:0019883)2.55884619
159detection of bacterium (GO:0016045)2.52751236
160histone H3-K36 demethylation (GO:0070544)2.51616492
161indolalkylamine metabolic process (GO:0006586)2.50837964
162replication fork processing (GO:0031297)2.50700166
163negative regulation of granulocyte differentiation (GO:0030853)2.50170827
164regulation of granulocyte differentiation (GO:0030852)2.49622417
165phospholipid homeostasis (GO:0055091)2.48854292
166cellular response to ethanol (GO:0071361)2.48808243
167T cell migration (GO:0072678)2.48582710
168response to UV-B (GO:0010224)2.46767377
169positive regulation of type I interferon-mediated signaling pathway (GO:0060340)2.44311819
170dendritic cell migration (GO:0036336)2.43322739
171regulation of syncytium formation by plasma membrane fusion (GO:0060142)2.41239745
172defense response to protozoan (GO:0042832)2.41065327
173positive regulation of T cell mediated cytotoxicity (GO:0001916)2.40608610
174positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.40588771
175aromatic amino acid family catabolic process (GO:0009074)2.40136057
176positive regulation of granulocyte differentiation (GO:0030854)2.40022077
177striated muscle atrophy (GO:0014891)2.39692443
178deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.39279771
179somatic hypermutation of immunoglobulin genes (GO:0016446)2.39040722
180somatic diversification of immune receptors via somatic mutation (GO:0002566)2.39040722
181cellular response to exogenous dsRNA (GO:0071360)2.39008623
182negative regulation of macrophage derived foam cell differentiation (GO:0010745)2.38239936
183regulation of dendritic cell antigen processing and presentation (GO:0002604)2.37781556
184T cell lineage commitment (GO:0002360)2.37656916
185B cell receptor signaling pathway (GO:0050853)2.37648323
186RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.36796051
187protein K6-linked ubiquitination (GO:0085020)2.36505506
188positive regulation of developmental pigmentation (GO:0048087)2.36250747
189response to interleukin-15 (GO:0070672)2.35832953
190positive regulation of natural killer cell differentiation (GO:0032825)2.35772526
191positive regulation of natural killer cell activation (GO:0032816)2.35096772
192pyridine nucleotide biosynthetic process (GO:0019363)2.34980554
193nicotinamide nucleotide biosynthetic process (GO:0019359)2.34980554
194positive regulation of interferon-beta production (GO:0032728)2.34323037
195positive regulation of DNA-dependent DNA replication (GO:2000105)2.33829685
196T-helper 1 type immune response (GO:0042088)2.33101557

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human5.55219537
2IRF8_22096565_ChIP-ChIP_GC-B_Mouse4.37831024
3CHD7_19251738_ChIP-ChIP_MESCs_Mouse3.77218914
4STAT6_21828071_ChIP-Seq_BEAS2B_Human3.76094493
5KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.66273472
6FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.65355803
7GATA1_22025678_ChIP-Seq_K562_Human3.49909330
8SCL_19346495_ChIP-Seq_HPC-7_Human3.34626069
9IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.11296303
10EGR1_23403033_ChIP-Seq_LIVER_Mouse3.01764731
11E2F7_22180533_ChIP-Seq_HELA_Human3.01568787
12CREB1_15753290_ChIP-ChIP_HEK293T_Human2.98412925
13GABP_17652178_ChIP-ChIP_JURKAT_Human2.93760012
14HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.86548482
15SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.79373656
16ZNF274_21170338_ChIP-Seq_K562_Hela2.73881198
17EST1_17652178_ChIP-ChIP_JURKAT_Human2.70648808
18IRF8_21731497_ChIP-ChIP_J774_Mouse2.53879919
19DMRT1_21621532_ChIP-ChIP_FETAL_Ovary2.45938087
20SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.42072310
21FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.40769661
22MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.32450923
23GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.32169015
24STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.31507918
25ELF1_17652178_ChIP-ChIP_JURKAT_Human2.28267024
26PCGF2_27294783_Chip-Seq_NPCs_Mouse2.19775714
27ZFP57_27257070_Chip-Seq_ESCs_Mouse2.19738684
28ELK1_19687146_ChIP-ChIP_HELA_Human2.18268848
29NOTCH1_21737748_ChIP-Seq_TLL_Human2.11606865
30CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.09149247
31HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse2.03764813
32CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.01963936
33SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.00370279
34POU3F2_20337985_ChIP-ChIP_501MEL_Human1.99996352
35IRF8_27001747_Chip-Seq_BMDM_Mouse1.94256414
36FLI1_27457419_Chip-Seq_LIVER_Mouse1.93313731
37VDR_22108803_ChIP-Seq_LS180_Human1.91746671
38SUZ12_27294783_Chip-Seq_NPCs_Mouse1.90459974
39EWS_26573619_Chip-Seq_HEK293_Human1.88423573
40PCGF2_27294783_Chip-Seq_ESCs_Mouse1.84665740
41MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.84140951
42CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.83312305
43CBP_20019798_ChIP-Seq_JUKART_Human1.80197175
44IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.80197175
45IRF1_19129219_ChIP-ChIP_H3396_Human1.78918820
46NFE2_27457419_Chip-Seq_LIVER_Mouse1.77863970
47RUNX_20019798_ChIP-Seq_JUKART_Human1.76534962
48SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.74618476
49FUS_26573619_Chip-Seq_HEK293_Human1.72642524
50CIITA_25753668_ChIP-Seq_RAJI_Human1.69945064
51BCAT_22108803_ChIP-Seq_LS180_Human1.69079220
52FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.64701874
53HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.62703375
54PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.62591235
55NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.60234856
56SRF_21415370_ChIP-Seq_HL-1_Mouse1.59272953
57ERG_20887958_ChIP-Seq_HPC-7_Mouse1.58792421
58ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.58528050
59BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.56619911
60ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.52431150
61MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.50871345
62LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.48998403
63EZH2_27294783_Chip-Seq_NPCs_Mouse1.46930107
64STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.45084588
65JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.43306975
66TAF15_26573619_Chip-Seq_HEK293_Human1.40876420
67YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.39448097
68SPI1_23547873_ChIP-Seq_NB4_Human1.39215051
69FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.39015695
70GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.38123886
71SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.35376661
72NANOG_19829295_ChIP-Seq_ESCs_Human1.35357592
73SOX2_19829295_ChIP-Seq_ESCs_Human1.35357592
74RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.33790270
75GBX2_23144817_ChIP-Seq_PC3_Human1.33673502
76UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.33584875
77TCF4_22108803_ChIP-Seq_LS180_Human1.33178142
78ETS1_20019798_ChIP-Seq_JURKAT_Human1.32439277
79GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.31816944
80KLF5_20875108_ChIP-Seq_MESCs_Mouse1.29753530
81MYB_26560356_Chip-Seq_TH1_Human1.28990281
82FOXA1_27270436_Chip-Seq_PROSTATE_Human1.28920709
83FOXA1_25329375_ChIP-Seq_VCAP_Human1.28920709
84CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.27617664
85EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.27148799
86Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.26120911
87KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.24931231
88HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.24794712
89P300_19829295_ChIP-Seq_ESCs_Human1.24667671
90ER_23166858_ChIP-Seq_MCF-7_Human1.24402366
91LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.23550723
92E2F4_17652178_ChIP-ChIP_JURKAT_Human1.22848065
93STAT3_18555785_Chip-Seq_ESCs_Mouse1.22118216
94AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.21880924
95MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.21120177
96HOXB4_20404135_ChIP-ChIP_EML_Mouse1.21099457
97TAL1_26923725_Chip-Seq_HPCs_Mouse1.19468106
98FOXP3_21729870_ChIP-Seq_TREG_Human1.18874825
99FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.18861870
100RUNX1_27457419_Chip-Seq_LIVER_Mouse1.18732678
101AUTS2_25519132_ChIP-Seq_293T-REX_Human1.18480309
102MYC_18940864_ChIP-ChIP_HL60_Human1.18357806
103RXR_22158963_ChIP-Seq_LIVER_Mouse1.18345634
104PADI4_21655091_ChIP-ChIP_MCF-7_Human1.18054665
105ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.17451944
106RUNX2_22187159_ChIP-Seq_PCA_Human1.17357472
107RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.16692628
108MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.16224740
109PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.15532169
110CTBP2_25329375_ChIP-Seq_LNCAP_Human1.14738135
111VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.14599809
112MYB_26560356_Chip-Seq_TH2_Human1.14435247
113ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.14203985
114OCT4_18555785_Chip-Seq_ESCs_Mouse1.13716452
115PU_27001747_Chip-Seq_BMDM_Mouse1.13577951
116GABP_19822575_ChIP-Seq_HepG2_Human1.12081947
117CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.12028954
118P300_18555785_Chip-Seq_ESCs_Mouse1.12018776
119CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.11092573
120P53_22387025_ChIP-Seq_ESCs_Mouse1.11087427
121SUZ12_18555785_Chip-Seq_ESCs_Mouse1.10352805
122GATA3_26560356_Chip-Seq_TH1_Human1.10300016
123FOXA1_21572438_ChIP-Seq_LNCaP_Human1.09939860
124STAT4_19710469_ChIP-ChIP_TH1__Mouse1.08335544
125PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.06592824
126GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human1.05290049
127EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.05153471
128SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.04530296
129PU1_27457419_Chip-Seq_LIVER_Mouse1.04398564
130TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.03630533
131NCOR_22424771_ChIP-Seq_293T_Human1.02956787
132PPARA_22158963_ChIP-Seq_LIVER_Mouse1.02556542
133GATA1_19941827_ChIP-Seq_MEL_Mouse1.02033184
134NMYC_18555785_Chip-Seq_ESCs_Mouse1.02018805
135E2F1_18555785_Chip-Seq_ESCs_Mouse1.01261784
136LXR_22158963_ChIP-Seq_LIVER_Mouse1.00234983
137YY1_21170310_ChIP-Seq_MESCs_Mouse1.00169915
138TCF4_23295773_ChIP-Seq_U87_Human0.99552749
139SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.99117135
140SOX2_18555785_Chip-Seq_ESCs_Mouse0.98939203
141SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.98040953
142FLI1_21867929_ChIP-Seq_TH2_Mouse0.97926720
143CTCF_18555785_Chip-Seq_ESCs_Mouse0.97447098
144TP53_22573176_ChIP-Seq_HFKS_Human0.97314078
145NR3C1_21868756_ChIP-Seq_MCF10A_Human0.97296265
146GATA3_26560356_Chip-Seq_TH2_Human0.97190530
147CBP_21632823_ChIP-Seq_H3396_Human0.96924557
148HTT_18923047_ChIP-ChIP_STHdh_Human0.96835154
149SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.96806633
150NANOG_18555785_Chip-Seq_ESCs_Mouse0.96696968
151CTBP1_25329375_ChIP-Seq_LNCAP_Human0.96422245
152CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.95493578
153CMYC_18555785_Chip-Seq_ESCs_Mouse0.95445739
154SALL1_21062744_ChIP-ChIP_HESCs_Human0.95368425
155ZFP322A_24550733_ChIP-Seq_MESCs_Mouse0.95201466
156GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95093179
157CDX2_19796622_ChIP-Seq_MESCs_Mouse0.94800405
158ESRRB_18555785_Chip-Seq_ESCs_Mouse0.94764339
159POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.93989403
160GATA3_27048872_Chip-Seq_THYMUS_Human0.93933758
161VDR_23849224_ChIP-Seq_CD4+_Human0.93565255
162OCT4_21477851_ChIP-Seq_ESCs_Mouse0.93438936
163STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.93287067
164SMAD4_21799915_ChIP-Seq_A2780_Human0.93190670
165ZFX_18555785_Chip-Seq_ESCs_Mouse0.92943382
166EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.92439346
167CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.91701192
168TBL1_22424771_ChIP-Seq_293T_Human0.91454188
169STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.90951226
170OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.90163943
171CRX_20693478_ChIP-Seq_RETINA_Mouse0.90153546
172HOXB7_26014856_ChIP-Seq_BT474_Human0.90147366
173SPI1_23127762_ChIP-Seq_K562_Human0.90125503
174STAT3_23295773_ChIP-Seq_U87_Human0.89896799
175CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.89551185
176IGF1R_20145208_ChIP-Seq_DFB_Human0.88835424

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation3.75158366
2MP0005408_hypopigmentation3.41416538
3MP0008877_abnormal_DNA_methylation3.30095443
4MP0000569_abnormal_digit_pigmentation3.04053775
5MP0002876_abnormal_thyroid_physiology2.99588344
6MP0008058_abnormal_DNA_repair2.91979127
7MP0009697_abnormal_copulation2.67912613
8MP0005365_abnormal_bile_salt2.54428472
9MP0002163_abnormal_gland_morphology2.46331053
10MP0005671_abnormal_response_to2.41895347
11MP0000685_abnormal_immune_system2.39494221
12MP0008057_abnormal_DNA_replication2.32621061
13MP0004782_abnormal_surfactant_physiolog2.29155006
14MP0001800_abnormal_humoral_immune2.27002238
15MP0008995_early_reproductive_senescence2.25291253
16MP0005646_abnormal_pituitary_gland2.22538481
17MP0003183_abnormal_peptide_metabolism2.15041987
18MP0005379_endocrine/exocrine_gland_phen2.14584736
19MP0005645_abnormal_hypothalamus_physiol2.04911905
20MP0005670_abnormal_white_adipose1.96889105
21MP0001790_abnormal_immune_system1.95763164
22MP0005387_immune_system_phenotype1.95763164
23MP0003718_maternal_effect1.90637546
24MP0003763_abnormal_thymus_physiology1.81491800
25MP0002452_abnormal_antigen_presenting1.80093860
26MP0006292_abnormal_olfactory_placode1.78948568
27MP0001764_abnormal_homeostasis1.78145177
28MP0003880_abnormal_central_pattern1.78053023
29MP0005025_abnormal_response_to1.78021746
30MP0005360_urolithiasis1.77292991
31MP0005075_abnormal_melanosome_morpholog1.76530358
32MP0009785_altered_susceptibility_to1.72711420
33MP0002723_abnormal_immune_serum1.71873689
34MP0002928_abnormal_bile_duct1.71264060
35MP0004883_abnormal_blood_vessel1.70592870
36MP0008775_abnormal_heart_ventricle1.69625900
37MP0002398_abnormal_bone_marrow1.65359149
38MP0001819_abnormal_immune_cell1.63178167
39MP0002420_abnormal_adaptive_immunity1.61568644
40MP0000858_altered_metastatic_potential1.60640686
41MP0002396_abnormal_hematopoietic_system1.60244734
42MP0002736_abnormal_nociception_after1.59814414
43MP0003252_abnormal_bile_duct1.55130289
44MP0004147_increased_porphyrin_level1.53887006
45MP0006072_abnormal_retinal_apoptosis1.51366635
46MP0001986_abnormal_taste_sensitivity1.50950566
47MP0002138_abnormal_hepatobiliary_system1.49833896
48MP0000716_abnormal_immune_system1.49804792
49MP0002139_abnormal_hepatobiliary_system1.49397762
50MP0002419_abnormal_innate_immunity1.47817905
51MP0008007_abnormal_cellular_replicative1.46667701
52MP0000689_abnormal_spleen_morphology1.46109192
53MP0004142_abnormal_muscle_tone1.45198422
54MP0002166_altered_tumor_susceptibility1.43542117
55MP0002254_reproductive_system_inflammat1.42546071
56MP0003436_decreased_susceptibility_to1.42254758
57MP0000631_abnormal_neuroendocrine_gland1.39611380
58MP0008789_abnormal_olfactory_epithelium1.38735820
59MP0010094_abnormal_chromosome_stability1.38683277
60MP0000371_diluted_coat_color1.36098144
61MP0005000_abnormal_immune_tolerance1.34700866
62MP0009764_decreased_sensitivity_to1.33202448
63MP0008875_abnormal_xenobiotic_pharmacok1.33156372
64MP0001545_abnormal_hematopoietic_system1.31811038
65MP0005397_hematopoietic_system_phenotyp1.31811038
66MP0005167_abnormal_blood-brain_barrier1.26149646
67MP0003943_abnormal_hepatobiliary_system1.24114432
68MP0002722_abnormal_immune_system1.22857340
69MP0002127_abnormal_cardiovascular_syste1.22416897
70MP0003786_premature_aging1.22095510
71MP0002638_abnormal_pupillary_reflex1.21754636
72MP0002148_abnormal_hypersensitivity_rea1.21047296
73MP0002429_abnormal_blood_cell1.20957437
74MP0002210_abnormal_sex_determination1.19786538
75MP0000703_abnormal_thymus_morphology1.18510283
76MP0005085_abnormal_gallbladder_physiolo1.18121768
77MP0003806_abnormal_nucleotide_metabolis1.17584702
78MP0008469_abnormal_protein_level1.16613305
79MP0000749_muscle_degeneration1.15438159
80MP0003724_increased_susceptibility_to1.15056794
81MP0004808_abnormal_hematopoietic_stem1.14470874
82MP0001853_heart_inflammation1.14404543
83MP0002837_dystrophic_cardiac_calcinosis1.14372391
84MP0000427_abnormal_hair_cycle1.13759701
85MP0005647_abnormal_sex_gland1.12150169
86MP0005332_abnormal_amino_acid1.11016788
87MP0005464_abnormal_platelet_physiology1.11009492
88MP0005174_abnormal_tail_pigmentation1.10390241
89MP0004019_abnormal_vitamin_homeostasis1.09667423
90MP0002006_tumorigenesis1.08992873
91MP0003646_muscle_fatigue1.08663726
92MP0009278_abnormal_bone_marrow1.07507925
93MP0001293_anophthalmia1.06812244
94MP0001873_stomach_inflammation1.05525095
95MP0002132_abnormal_respiratory_system1.05277015
96MP0010155_abnormal_intestine_physiology1.05083619
97MP0005395_other_phenotype1.02513937
98MP0005083_abnormal_biliary_tract1.01270560
99MP0010329_abnormal_lipoprotein_level1.01187721
100MP0003191_abnormal_cellular_cholesterol0.99624930
101MP0000609_abnormal_liver_physiology0.99503567
102MP0003186_abnormal_redox_activity0.98792579
103MP0005310_abnormal_salivary_gland0.97199700
104MP0001929_abnormal_gametogenesis0.95737968
105MP0003172_abnormal_lysosome_physiology0.95575092
106MP0005551_abnormal_eye_electrophysiolog0.93185418
107MP0009763_increased_sensitivity_to0.93082089
108MP0005253_abnormal_eye_physiology0.93032465
109MP0006276_abnormal_autonomic_nervous0.92823983
110MP0001845_abnormal_inflammatory_respons0.92718814
111MP0006036_abnormal_mitochondrial_physio0.91640631
112MP0005394_taste/olfaction_phenotype0.91180085
113MP0005499_abnormal_olfactory_system0.91180085
114MP0003787_abnormal_imprinting0.88635609
115MP0008872_abnormal_physiological_respon0.88578397
116MP0000653_abnormal_sex_gland0.87468320
117MP0010307_abnormal_tumor_latency0.86963767
118MP0003111_abnormal_nucleus_morphology0.86684946
119MP0006082_CNS_inflammation0.86615320
120MP0000681_abnormal_thyroid_gland0.82249122
121MP0001905_abnormal_dopamine_level0.82236100
122MP0004133_heterotaxia0.81744633
123MP0009115_abnormal_fat_cell0.81441305
124MP0001663_abnormal_digestive_system0.81436054
125MP0009643_abnormal_urine_homeostasis0.80893787
126MP0003121_genomic_imprinting0.80582241
127MP0005334_abnormal_fat_pad0.80279832
128MP0000372_irregular_coat_pigmentation0.80142427
129MP0001661_extended_life_span0.79818163
130MP0002405_respiratory_system_inflammati0.78293016
131MP0002118_abnormal_lipid_homeostasis0.77237559
132MP0005389_reproductive_system_phenotype0.77060157
133MP0002102_abnormal_ear_morphology0.76633664
134MP0001119_abnormal_female_reproductive0.75929664
135MP0004264_abnormal_extraembryonic_tissu0.75466698
136MP0005084_abnormal_gallbladder_morpholo0.74741859
137MP0004084_abnormal_cardiac_muscle0.74104671
138MP0003077_abnormal_cell_cycle0.73690295
139MP0002095_abnormal_skin_pigmentation0.73561400
140MP0008873_increased_physiological_sensi0.73282906
141MP0003195_calcinosis0.72714633
142MP0004145_abnormal_muscle_electrophysio0.72126390
143MP0001324_abnormal_eye_pigmentation0.71876128
144MP0002971_abnormal_brown_adipose0.71836940
145MP0001145_abnormal_male_reproductive0.71821723
146MP0003868_abnormal_feces_composition0.71276203
147MP0003632_abnormal_nervous_system0.71089280
148MP0005220_abnormal_exocrine_pancreas0.70305797
149MP0002160_abnormal_reproductive_system0.69669628
150MP0005595_abnormal_vascular_smooth0.69506319
151MP0001968_abnormal_touch/_nociception0.68666510
152MP0004036_abnormal_muscle_relaxation0.68182034
153MP0006035_abnormal_mitochondrial_morpho0.67687386
154MP0005319_abnormal_enzyme/_coenzyme0.66266308
155MP0000013_abnormal_adipose_tissue0.63553242
156MP0004215_abnormal_myocardial_fiber0.63022277
157MP0001529_abnormal_vocalization0.60938006
158MP0003698_abnormal_male_reproductive0.60790806
159MP0002184_abnormal_innervation0.60612980
160MP0005164_abnormal_response_to0.60301414
161MP0003690_abnormal_glial_cell0.60002813
162MP0000015_abnormal_ear_pigmentation0.58628547

Predicted human phenotypes

RankGene SetZ-score
1Nasal polyposis (HP:0100582)6.25368135
2Abnormality of pyrimidine metabolism (HP:0004353)5.70243443
3Abnormality of the nasal mucosa (HP:0000433)4.96702544
4Chronic hepatic failure (HP:0100626)4.66068953
5Zonular cataract (HP:0010920)4.50166551
6Abnormality of monocarboxylic acid metabolism (HP:0010996)4.15705991
7Megaloblastic anemia (HP:0001889)4.09485703
8Colon cancer (HP:0003003)4.01487503
9Pancreatic fibrosis (HP:0100732)3.82671637
10Nephronophthisis (HP:0000090)3.75237588
11Thrombocytosis (HP:0001894)3.71213502
12Renal cortical cysts (HP:0000803)3.70995241
13Recurrent abscess formation (HP:0002722)3.49269642
14Elevated erythrocyte sedimentation rate (HP:0003565)3.49093005
15Degeneration of anterior horn cells (HP:0002398)3.47376629
16Abnormality of the anterior horn cell (HP:0006802)3.47376629
17Hypoglycemic coma (HP:0001325)3.42987139
18Autoimmune thrombocytopenia (HP:0001973)3.42860476
193-Methylglutaconic aciduria (HP:0003535)3.41773315
20Stomach cancer (HP:0012126)3.31311754
21Microvesicular hepatic steatosis (HP:0001414)3.27555678
22Recurrent bacterial skin infections (HP:0005406)3.25993260
23Agnosia (HP:0010524)3.24468138
24Generalized aminoaciduria (HP:0002909)3.23479389
25Metaphyseal dysplasia (HP:0100255)3.21583425
26Delayed CNS myelination (HP:0002188)3.18981047
27Abnormality of T cell physiology (HP:0011840)3.17560576
28Abnormality of the fingertips (HP:0001211)3.10828106
29Abnormality of the renal medulla (HP:0100957)3.04508474
30Chromosomal breakage induced by crosslinking agents (HP:0003221)3.04387368
31Dicarboxylic aciduria (HP:0003215)2.93032543
32Abnormality of dicarboxylic acid metabolism (HP:0010995)2.93032543
33Medial flaring of the eyebrow (HP:0010747)2.87632912
34Prostate neoplasm (HP:0100787)2.84633438
35Chromsome breakage (HP:0040012)2.82941631
36Absent frontal sinuses (HP:0002688)2.78014045
37Poikilocytosis (HP:0004447)2.75355653
38Increased serum pyruvate (HP:0003542)2.72252052
39Methylmalonic aciduria (HP:0012120)2.68123475
40Abnormality of the renal cortex (HP:0011035)2.67584829
41Macrocytic anemia (HP:0001972)2.62644295
42Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.58962455
43Decreased activity of mitochondrial respiratory chain (HP:0008972)2.58962455
44Septo-optic dysplasia (HP:0100842)2.57889954
45Abnormal delayed hypersensitivity skin test (HP:0002963)2.57661991
46Postaxial foot polydactyly (HP:0001830)2.55154127
47Atrophy/Degeneration involving motor neurons (HP:0007373)2.55095022
48Abnormality of lateral ventricle (HP:0030047)2.52873971
49Median cleft lip (HP:0000161)2.52641802
50Congenital hepatic fibrosis (HP:0002612)2.52424178
51Recurrent viral infections (HP:0004429)2.47840857
52Tubulointerstitial nephritis (HP:0001970)2.46883953
53Unilateral renal agenesis (HP:0000122)2.44265837
54Proximal tubulopathy (HP:0000114)2.43831139
55IgM deficiency (HP:0002850)2.43097783
56Vacuolated lymphocytes (HP:0001922)2.37815462
57Congenital stationary night blindness (HP:0007642)2.36911263
58Volvulus (HP:0002580)2.33949424
59Sclerocornea (HP:0000647)2.32008723
60True hermaphroditism (HP:0010459)2.27782878
61Central scotoma (HP:0000603)2.25942059
62Abnormality of the aortic arch (HP:0012303)2.25587155
63Mediastinal lymphadenopathy (HP:0100721)2.25246215
64Male pseudohermaphroditism (HP:0000037)2.24320695
65Congenital primary aphakia (HP:0007707)2.20753684
66Increased IgM level (HP:0003496)2.19725060
67Agammaglobulinemia (HP:0004432)2.19622432
68Myositis (HP:0100614)2.19096513
69Supernumerary spleens (HP:0009799)2.18968881
70Depressed nasal tip (HP:0000437)2.18931222
71Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.17151981
72Spinal muscular atrophy (HP:0007269)2.16599635
73Amaurosis fugax (HP:0100576)2.12318794
74Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)2.10710643
75Hypoglycemic seizures (HP:0002173)2.10668528
76Asthma (HP:0002099)2.08751410
77Optic nerve coloboma (HP:0000588)2.08701954
78Increased CSF lactate (HP:0002490)2.08610334
79Abnormality of fatty-acid metabolism (HP:0004359)2.08268718
80Renal dysplasia (HP:0000110)2.07513168
81Abnormality of T cells (HP:0002843)2.07462620
82Aplasia/Hypoplasia of the tongue (HP:0010295)2.05097204
83Recurrent skin infections (HP:0001581)2.04246316
84Tachypnea (HP:0002789)2.03668068
85Gait imbalance (HP:0002141)2.03176326
86Methylmalonic acidemia (HP:0002912)2.02921047
87Cystic liver disease (HP:0006706)2.02905978
88Nephrogenic diabetes insipidus (HP:0009806)2.02729460
89Recurrent fungal infections (HP:0002841)2.02006966
90Hypothermia (HP:0002045)2.00538775
91Neutropenia (HP:0001875)2.00474714
92Abnormality of nucleobase metabolism (HP:0010932)1.99984491
93Abnormality of glycolysis (HP:0004366)1.98897188
94Symptomatic seizures (HP:0011145)1.98745994
95Limb hypertonia (HP:0002509)1.98182420
96Aplasia cutis congenita (HP:0001057)1.98073672
97Abnormal spermatogenesis (HP:0008669)1.97712510
98Erythema (HP:0010783)1.96866967
99Postaxial hand polydactyly (HP:0001162)1.96660167
100Optic nerve hypoplasia (HP:0000609)1.96615911
101Hepatocellular necrosis (HP:0001404)1.96447551
102Interstitial pulmonary disease (HP:0006530)1.95752673
103Follicular hyperkeratosis (HP:0007502)1.94584248
104Optic disc pallor (HP:0000543)1.93181836
105Vasculitis (HP:0002633)1.93035087
106IgA deficiency (HP:0002720)1.92978389
107Recurrent sinusitis (HP:0011108)1.91797457
108Ectropion (HP:0000656)1.90904711
109Panhypogammaglobulinemia (HP:0003139)1.90700049
110Portal hypertension (HP:0001409)1.89469563
111Oculomotor apraxia (HP:0000657)1.88986146
112Hypoplasia of the thymus (HP:0000778)1.88942666
113Recurrent pneumonia (HP:0006532)1.88170039
114Duplicated collecting system (HP:0000081)1.88126220
115Abnormal rod and cone electroretinograms (HP:0008323)1.87809713
116Abnormality of the hepatic vasculature (HP:0006707)1.87342802
117IgG deficiency (HP:0004315)1.86735571
118Erythroderma (HP:0001019)1.86634344
119Inability to walk (HP:0002540)1.86487685
120Ectopic kidney (HP:0000086)1.85889569
121Male infertility (HP:0003251)1.84514814
122Abnormal respiratory motile cilium physiology (HP:0012261)1.84509171
123Abnormality of DNA repair (HP:0003254)1.84466517
124Bile duct proliferation (HP:0001408)1.83792504
125Abnormal biliary tract physiology (HP:0012439)1.83792504
126Sloping forehead (HP:0000340)1.83602544
127Abnormality of the labia minora (HP:0012880)1.83591381
128Esophageal atresia (HP:0002032)1.83068231
129Stomatitis (HP:0010280)1.82787490
130Thyroiditis (HP:0100646)1.82081876
131Asplenia (HP:0001746)1.79901921
132Thyroid-stimulating hormone excess (HP:0002925)1.79614142
133Pancreatic cysts (HP:0001737)1.78620597
134Abnormality of the prostate (HP:0008775)1.78377537
135Narrow palate (HP:0000189)1.78120096
136Abnormality of male internal genitalia (HP:0000022)1.77902931
137Lymphopenia (HP:0001888)1.77762294
138Abnormal ciliary motility (HP:0012262)1.77388793
139Chronic mucocutaneous candidiasis (HP:0002728)1.77211409
140Recurrent cutaneous fungal infections (HP:0011370)1.77211409
141Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.77207982
142Clubbing of toes (HP:0100760)1.77091560
143Abnormality of midbrain morphology (HP:0002418)1.76306667
144Molar tooth sign on MRI (HP:0002419)1.76306667
145Bony spicule pigmentary retinopathy (HP:0007737)1.76183748
146Meningitis (HP:0001287)1.75819139
147Leukopenia (HP:0001882)1.75405482
148Occipital encephalocele (HP:0002085)1.75345076
149Recurrent gram-negative bacterial infections (HP:0005420)1.75246497
150Gingival bleeding (HP:0000225)1.74671258
151Lymphoma (HP:0002665)1.74305817
152Aplasia/Hypoplasia of the spleen (HP:0010451)1.73836026
153Long eyelashes (HP:0000527)1.73822765
154Eczematoid dermatitis (HP:0000976)1.73623561
155Mitochondrial inheritance (HP:0001427)1.73219464
156Abnormality of cells of the lymphoid lineage (HP:0012140)1.72081618
157Syringomyelia (HP:0003396)1.71889782
158Spinal cord lesions (HP:0100561)1.71889782
159Hyperglycinemia (HP:0002154)1.71843597
160Prolonged partial thromboplastin time (HP:0003645)1.70418126
161Absent rod-and cone-mediated responses on ERG (HP:0007688)1.70162833
162Abnormal hair whorl (HP:0010721)1.70031144
163Delayed myelination (HP:0012448)1.69970935
164Hepatic necrosis (HP:0002605)1.69969748
165Submucous cleft hard palate (HP:0000176)1.69634445
166Chronic diarrhea (HP:0002028)1.69538743
167Abnormality of the renal collecting system (HP:0004742)1.69339256
168Tubulointerstitial abnormality (HP:0001969)1.69278838
169Intestinal atresia (HP:0011100)1.68288141
170Myelodysplasia (HP:0002863)1.68028126
171Ketosis (HP:0001946)1.67842569
172Febrile seizures (HP:0002373)1.67440669
173Fair hair (HP:0002286)1.67374789
174Spondylolisthesis (HP:0003302)1.67202596
175Abnormal respiratory epithelium morphology (HP:0012253)1.66678326
176Abnormal respiratory motile cilium morphology (HP:0005938)1.66678326
177Diaphragmatic weakness (HP:0009113)1.65542298
178Acute lymphatic leukemia (HP:0006721)1.65365273
179Nausea (HP:0002018)1.64992393
180Dynein arm defect of respiratory motile cilia (HP:0012255)1.64429534
181Absent/shortened dynein arms (HP:0200106)1.64429534
182Attenuation of retinal blood vessels (HP:0007843)1.63866104

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TAOK25.19961470
2MAP4K23.93146856
3MAP2K63.88404223
4PTK2B3.56505757
5BRD43.17529062
6FRK2.94251497
7INSRR2.82753632
8CDK122.80867542
9ZAK2.75806043
10IKBKE2.60804836
11MAP3K142.49286789
12MAP4K12.36162437
13FLT32.35833715
14TYK22.32710576
15JAK32.30679354
16SIK12.20719698
17CAMK1D2.20267953
18WNK42.09425323
19EPHA41.93698330
20PNCK1.89321300
21STK391.88003055
22IRAK31.86502367
23KIT1.77393052
24YES11.75077299
25CSF1R1.73173957
26MAP3K71.72075831
27SIK31.68315774
28SGK21.64327855
29MST41.62146218
30IRAK41.60134085
31TEC1.57661176
32STK161.57137131
33MAP3K51.54802349
34MAPK71.47934624
35EIF2AK31.47887105
36SRPK11.46007713
37TAOK31.42912892
38GRK11.41617951
39TXK1.41071049
40CAMK1G1.40197546
41BTK1.38051432
42IKBKB1.37958488
43BRSK21.31601012
44ATR1.30200307
45TLK11.29456410
46JAK11.23588509
47AKT31.22668546
48PIK3CG1.19802933
49NEK11.19546543
50BCKDK1.18810199
51SGK31.17959929
52TNIK1.17590214
53BMPR1B1.16945849
54STK41.10316623
55TRIM281.08709595
56EPHA21.08123114
57PDK21.08059697
58PINK11.04709155
59GSK3A1.04628857
60MAP3K131.04043017
61BMPR21.03915095
62ERN11.01006610
63MAP3K121.00640754
64PIM10.99316354
65MAPK150.98698606
66PIK3CA0.98409568
67NEK20.98266088
68TBK10.95435915
69SGK4940.91007519
70SGK2230.91007519
71ACVR1B0.90880112
72FGFR30.88627726
73SYK0.87413934
74PRKG20.82350939
75SIK20.82210984
76EIF2AK20.81764835
77CHUK0.81043726
78CDK190.79551432
79CASK0.78192034
80PRKD20.77875471
81ZAP700.77015218
82TRPM70.75992711
83ERBB30.75616359
84ITK0.74345484
85NME10.74213378
86GRK70.72943846
87STK38L0.72927498
88PRKAA20.72295121
89RPS6KB10.70096230
90FGFR20.69906021
91PLK30.69542589
92MARK30.69082194
93CDK70.68733948
94DYRK30.68292843
95MAPK130.66129035
96PLK40.65342738
97PHKG20.65296718
98PHKG10.65296718
99MAPK110.64750712
100WNK10.63457381
101VRK10.63197063
102EIF2AK10.63109690
103NUAK10.62832693
104TIE10.61749417
105ADRBK20.61277766
106FGFR40.59909207
107PRKCH0.59823689
108LYN0.58792715
109BCR0.58687357
110LCK0.56596786
111VRK20.55206694
112STK240.55162759
113CDC42BPA0.54807788
114NEK60.54524231
115EPHA30.54334929
116CDK90.54227588
117CSNK1A10.53972754
118TNK20.53226228
119MELK0.52737033
120WNK30.52212525
121CAMK40.52163319
122ATM0.51426842
123RPS6KA40.50456642
124PDGFRB0.50093856
125RPS6KA60.48906759
126PLK10.48735264
127TESK20.46042626
128MAPK30.44634731
129HCK0.44277792
130NLK0.44044501
131PRKCZ0.43389956
132CDK40.42946637
133MAP3K40.42619361
134PRKCE0.42378358
135IRAK10.42344981
136RPS6KC10.42271681
137RPS6KL10.42271681
138TTK0.42112665
139CHEK20.41737744
140MAP2K70.41225444
141JAK20.40772339
142OXSR10.40736984
143CSNK1A1L0.40148716
144PASK0.39941288
145HIPK20.39453470
146ERBB40.39240742
147PRKAA10.39124544
148PRKD30.38647688
149EEF2K0.38021160
150MKNK10.37782785
151OBSCN0.37574864
152SGK10.37565533
153PLK20.36272551
154WEE10.35567970
155CDC70.35228251
156MAP3K80.32829912
157PRKCQ0.32044507
158TGFBR10.30247706
159FER0.29250144
160NME20.28819915

Predicted pathways (KEGG)

RankGene SetZ-score
1Caffeine metabolism_Homo sapiens_hsa002323.99934543
2Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.22369832
3Non-homologous end-joining_Homo sapiens_hsa034503.12131875
4Oxidative phosphorylation_Homo sapiens_hsa001902.47740664
5Ribosome_Homo sapiens_hsa030102.32525524
6Fanconi anemia pathway_Homo sapiens_hsa034602.25849990
7ABC transporters_Homo sapiens_hsa020102.23358496
8Primary immunodeficiency_Homo sapiens_hsa053402.21454988
9Peroxisome_Homo sapiens_hsa041462.16562879
10Fatty acid degradation_Homo sapiens_hsa000712.13968049
11Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.13629311
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.10148054
13Propanoate metabolism_Homo sapiens_hsa006402.01811214
14Mismatch repair_Homo sapiens_hsa034302.01369656
15Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.98686102
16Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.97406726
17Maturity onset diabetes of the young_Homo sapiens_hsa049501.97052623
18Parkinsons disease_Homo sapiens_hsa050121.90401326
19Homologous recombination_Homo sapiens_hsa034401.89112190
20RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.87396506
21Fatty acid metabolism_Homo sapiens_hsa012121.86040897
22Herpes simplex infection_Homo sapiens_hsa051681.85835844
23Tryptophan metabolism_Homo sapiens_hsa003801.85768445
24NF-kappa B signaling pathway_Homo sapiens_hsa040641.85681307
25Nucleotide excision repair_Homo sapiens_hsa034201.79883778
26RNA polymerase_Homo sapiens_hsa030201.77872272
27Intestinal immune network for IgA production_Homo sapiens_hsa046721.76530909
28Lysine degradation_Homo sapiens_hsa003101.73760790
29Primary bile acid biosynthesis_Homo sapiens_hsa001201.71633601
30Measles_Homo sapiens_hsa051621.67087289
31Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.66853331
32beta-Alanine metabolism_Homo sapiens_hsa004101.63792508
33Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.60155170
34Huntingtons disease_Homo sapiens_hsa050161.58014806
35Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.56667525
36Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.46254790
37RNA transport_Homo sapiens_hsa030131.45498289
38One carbon pool by folate_Homo sapiens_hsa006701.44326412
39Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.34710962
40Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.30725786
41Allograft rejection_Homo sapiens_hsa053301.30055636
42Fatty acid elongation_Homo sapiens_hsa000621.28132844
43Drug metabolism - other enzymes_Homo sapiens_hsa009831.27714088
44Spliceosome_Homo sapiens_hsa030401.23052959
45Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.20337435
46Base excision repair_Homo sapiens_hsa034101.19320883
47Fatty acid biosynthesis_Homo sapiens_hsa000611.17270922
48Influenza A_Homo sapiens_hsa051641.15529892
49PPAR signaling pathway_Homo sapiens_hsa033201.11396109
50Alzheimers disease_Homo sapiens_hsa050101.08189280
51Fructose and mannose metabolism_Homo sapiens_hsa000511.05155498
52Glutathione metabolism_Homo sapiens_hsa004801.04295428
53Selenocompound metabolism_Homo sapiens_hsa004501.03039853
54Jak-STAT signaling pathway_Homo sapiens_hsa046301.03013379
55Ether lipid metabolism_Homo sapiens_hsa005651.02253780
56Histidine metabolism_Homo sapiens_hsa003401.00052810
57Systemic lupus erythematosus_Homo sapiens_hsa053220.97803640
58Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.97575747
59Toll-like receptor signaling pathway_Homo sapiens_hsa046200.95371139
60Linoleic acid metabolism_Homo sapiens_hsa005910.95069727
61RNA degradation_Homo sapiens_hsa030180.92174257
62Phenylalanine metabolism_Homo sapiens_hsa003600.91512086
63Transcriptional misregulation in cancer_Homo sapiens_hsa052020.91499946
64Pentose and glucuronate interconversions_Homo sapiens_hsa000400.87873342
65SNARE interactions in vesicular transport_Homo sapiens_hsa041300.87769691
66Graft-versus-host disease_Homo sapiens_hsa053320.87604926
67Regulation of autophagy_Homo sapiens_hsa041400.85435687
68Folate biosynthesis_Homo sapiens_hsa007900.85239322
69Purine metabolism_Homo sapiens_hsa002300.82507335
70Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.82264671
71Hepatitis C_Homo sapiens_hsa051600.81769564
72Staphylococcus aureus infection_Homo sapiens_hsa051500.80769589
73Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.79862448
74Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.79292189
75Basal transcription factors_Homo sapiens_hsa030220.74186712
76Sulfur relay system_Homo sapiens_hsa041220.73532804
77Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.72708328
78Vitamin digestion and absorption_Homo sapiens_hsa049770.72686498
79Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.71562132
80Metabolic pathways_Homo sapiens_hsa011000.71537607
81Hematopoietic cell lineage_Homo sapiens_hsa046400.70626576
82Antigen processing and presentation_Homo sapiens_hsa046120.70367166
83DNA replication_Homo sapiens_hsa030300.70194832
84Cysteine and methionine metabolism_Homo sapiens_hsa002700.69172535
85Insulin resistance_Homo sapiens_hsa049310.68691488
86Retinol metabolism_Homo sapiens_hsa008300.66868272
87Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.66600925
88NOD-like receptor signaling pathway_Homo sapiens_hsa046210.65545115
89Chemical carcinogenesis_Homo sapiens_hsa052040.65154775
90Leishmaniasis_Homo sapiens_hsa051400.64938453
91Starch and sucrose metabolism_Homo sapiens_hsa005000.62368310
92Notch signaling pathway_Homo sapiens_hsa043300.61468030
93Asthma_Homo sapiens_hsa053100.61241305
94Complement and coagulation cascades_Homo sapiens_hsa046100.60551870
95Proteasome_Homo sapiens_hsa030500.58957543
96Viral myocarditis_Homo sapiens_hsa054160.57454331
97Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.57391922
98Other glycan degradation_Homo sapiens_hsa005110.56587240
99Inositol phosphate metabolism_Homo sapiens_hsa005620.55942467
100Autoimmune thyroid disease_Homo sapiens_hsa053200.55342880
101Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.54943506
102African trypanosomiasis_Homo sapiens_hsa051430.54629262
103Protein export_Homo sapiens_hsa030600.54011553
104Glycerolipid metabolism_Homo sapiens_hsa005610.53058911
105Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.51413124
106B cell receptor signaling pathway_Homo sapiens_hsa046620.51230033
107Phototransduction_Homo sapiens_hsa047440.50895075
108Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.49167450
109Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.49060720
110Sphingolipid metabolism_Homo sapiens_hsa006000.47613058
111Butanoate metabolism_Homo sapiens_hsa006500.47132029
112Arachidonic acid metabolism_Homo sapiens_hsa005900.45186400
113Type II diabetes mellitus_Homo sapiens_hsa049300.45083022
114Circadian rhythm_Homo sapiens_hsa047100.44492247
115Glucagon signaling pathway_Homo sapiens_hsa049220.44223775
116Phosphatidylinositol signaling system_Homo sapiens_hsa040700.43851228
117mRNA surveillance pathway_Homo sapiens_hsa030150.43709201
118Steroid biosynthesis_Homo sapiens_hsa001000.43167999
119Type I diabetes mellitus_Homo sapiens_hsa049400.42435684
120Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.42421983
121Steroid hormone biosynthesis_Homo sapiens_hsa001400.41894275
122Pyrimidine metabolism_Homo sapiens_hsa002400.41606458
123Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.40758021
124Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.40623395
125Cardiac muscle contraction_Homo sapiens_hsa042600.40511718
1262-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.39037749
127Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.37230871
128Tyrosine metabolism_Homo sapiens_hsa003500.35872200
129Arginine biosynthesis_Homo sapiens_hsa002200.35673698
130p53 signaling pathway_Homo sapiens_hsa041150.35558160
131Pyruvate metabolism_Homo sapiens_hsa006200.35146819
132Lysosome_Homo sapiens_hsa041420.35133414
133Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.32724182
134Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.31913193
135Epstein-Barr virus infection_Homo sapiens_hsa051690.30501718
136Malaria_Homo sapiens_hsa051440.30136199
137Olfactory transduction_Homo sapiens_hsa047400.29045644
138T cell receptor signaling pathway_Homo sapiens_hsa046600.26198536
139Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.24023932

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