SRD5A3

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 belongs to the steroid 5-alpha reductase family, and polyprenol reductase subfamily. It is involved in the production of androgen 5-alpha-dihydrotestosterone (DHT) from testosterone, and maintenance of the androgen-androgen receptor activation pathway. This protein is also necessary for the conversion of polyprenol into dolichol, which is required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-linked glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type Iq. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.39204721
2mitochondrial respiratory chain complex I assembly (GO:0032981)4.39204721
3NADH dehydrogenase complex assembly (GO:0010257)4.39204721
4mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.21186940
5protein complex biogenesis (GO:0070271)4.16627236
6DNA deamination (GO:0045006)4.11944730
7mitochondrial respiratory chain complex assembly (GO:0033108)3.99722081
8pseudouridine synthesis (GO:0001522)3.93290749
9respiratory chain complex IV assembly (GO:0008535)3.89059240
10regulation of mitochondrial translation (GO:0070129)3.81494889
11energy coupled proton transport, down electrochemical gradient (GO:0015985)3.72150542
12ATP synthesis coupled proton transport (GO:0015986)3.72150542
13response to peptidoglycan (GO:0032494)3.69294145
14purine nucleobase biosynthetic process (GO:0009113)3.67417387
15water-soluble vitamin biosynthetic process (GO:0042364)3.65601310
16cytochrome complex assembly (GO:0017004)3.60931222
17neutrophil activation involved in immune response (GO:0002283)3.58441442
18pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.51546639
19chaperone-mediated protein transport (GO:0072321)3.45195724
20mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.44460875
21electron transport chain (GO:0022900)3.43587345
22ubiquinone biosynthetic process (GO:0006744)3.42148674
23respiratory electron transport chain (GO:0022904)3.41725209
24purine nucleotide salvage (GO:0032261)3.41205813
25protein maturation by protein folding (GO:0022417)3.40472586
26facial nerve structural organization (GO:0021612)3.37310923
27lymphoid progenitor cell differentiation (GO:0002320)3.35818530
28antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.35615909
29proteasome assembly (GO:0043248)3.33649567
30mannosylation (GO:0097502)3.33621385
31regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.32720333
32superoxide anion generation (GO:0042554)3.29055718
33L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.27476778
34nucleobase biosynthetic process (GO:0046112)3.27386749
35pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.25643483
36oxidative phosphorylation (GO:0006119)3.25086671
37transcription elongation from RNA polymerase III promoter (GO:0006385)3.21940669
38termination of RNA polymerase III transcription (GO:0006386)3.21940669
39nucleobase-containing small molecule interconversion (GO:0015949)3.19945357
40protein targeting to mitochondrion (GO:0006626)3.18016324
41amino sugar catabolic process (GO:0046348)3.16245301
42regulation of pigment cell differentiation (GO:0050932)3.13736252
43mature B cell differentiation (GO:0002335)3.11863588
44deoxyribonucleoside triphosphate metabolic process (GO:0009200)3.11264052
45respiratory burst (GO:0045730)3.09061784
46ribosomal small subunit assembly (GO:0000028)3.09014614
47deoxyribose phosphate biosynthetic process (GO:0046385)3.07889388
482-deoxyribonucleotide biosynthetic process (GO:0009265)3.07889388
49immunoglobulin mediated immune response (GO:0016064)3.07211660
50polyketide metabolic process (GO:0030638)3.04266488
51doxorubicin metabolic process (GO:0044598)3.04266488
52daunorubicin metabolic process (GO:0044597)3.04266488
53regulation of B cell receptor signaling pathway (GO:0050855)3.02464523
54rRNA modification (GO:0000154)2.97474410
55negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.96072071
56maturation of 5.8S rRNA (GO:0000460)2.96028804
57signal peptide processing (GO:0006465)2.95167521
58mature B cell differentiation involved in immune response (GO:0002313)2.94668923
59ubiquinone metabolic process (GO:0006743)2.94031831
60mast cell activation (GO:0045576)2.92822110
61regulation of cellular amino acid metabolic process (GO:0006521)2.91956031
62establishment of protein localization to mitochondrion (GO:0072655)2.91370782
63GTP biosynthetic process (GO:0006183)2.90444754
64telomere maintenance via semi-conservative replication (GO:0032201)2.90399630
65pyrimidine nucleoside triphosphate metabolic process (GO:0009147)2.90141668
66base-excision repair, AP site formation (GO:0006285)2.89550520
67dendritic cell chemotaxis (GO:0002407)2.89131831
68establishment of protein localization to mitochondrial membrane (GO:0090151)2.88602410
69developmental pigmentation (GO:0048066)2.87328837
70negative regulation of transcription by competitive promoter binding (GO:0010944)2.86715486
71protein localization to mitochondrion (GO:0070585)2.85435659
72C-terminal protein lipidation (GO:0006501)2.85375254
73* dolichol-linked oligosaccharide biosynthetic process (GO:0006488)2.84906098
74omega-hydroxylase P450 pathway (GO:0097267)2.84343726
75mitochondrial RNA metabolic process (GO:0000959)2.83902542
76GPI anchor biosynthetic process (GO:0006506)2.82895075
77DNA double-strand break processing (GO:0000729)2.82818455
78cullin deneddylation (GO:0010388)2.81896183
79peptidyl-histidine modification (GO:0018202)2.81009319
80positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.80415574
81protein deneddylation (GO:0000338)2.79188138
82interferon-gamma production (GO:0032609)2.77442213
83positive regulation of prostaglandin secretion (GO:0032308)2.77045760
84ribosome assembly (GO:0042255)2.76744735
85deoxyribonucleotide catabolic process (GO:0009264)2.76295390
86deoxyribose phosphate catabolic process (GO:0046386)2.75926932
87neutrophil activation (GO:0042119)2.74717167
88mitochondrial calcium ion transport (GO:0006851)2.74631634
89myeloid leukocyte mediated immunity (GO:0002444)2.74156880
90neutrophil mediated immunity (GO:0002446)2.73262660
91regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.72835124
92cellular component biogenesis (GO:0044085)2.72454396
93L-methionine salvage (GO:0071267)2.71927625
94L-methionine biosynthetic process (GO:0071265)2.71927625
95amino acid salvage (GO:0043102)2.71927625
96lipopolysaccharide biosynthetic process (GO:0009103)2.71485995
97quinone biosynthetic process (GO:1901663)2.70692006
98protein heterotetramerization (GO:0051290)2.69754542
99viral genome replication (GO:0019079)2.69194622
100membrane invagination (GO:0010324)2.69150134
101mitochondrial transport (GO:0006839)2.69141798
102negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.68952684
103negative regulation of ligase activity (GO:0051352)2.68952684
104ribosomal large subunit biogenesis (GO:0042273)2.68643467
105pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)2.68418385
106folic acid metabolic process (GO:0046655)2.67178871
107positive regulation of type I interferon-mediated signaling pathway (GO:0060340)2.66516609
108negative regulation of myeloid cell apoptotic process (GO:0033033)2.65991406
109response to interferon-beta (GO:0035456)2.64786849
110transcription from mitochondrial promoter (GO:0006390)2.64072095
111defense response to protozoan (GO:0042832)2.63449541
112cranial nerve morphogenesis (GO:0021602)2.62876394
113hydrogen ion transmembrane transport (GO:1902600)2.62625127
114response to muramyl dipeptide (GO:0032495)2.62467909
115pyrimidine nucleotide catabolic process (GO:0006244)2.62467179
116AMP metabolic process (GO:0046033)2.61698600
117heme biosynthetic process (GO:0006783)2.61679401
118leukocyte aggregation (GO:0070486)2.61095807
119mesonephros development (GO:0001823)2.61092698
120guanosine-containing compound biosynthetic process (GO:1901070)2.60629336
121pattern specification involved in kidney development (GO:0061004)2.60382452
122kynurenine metabolic process (GO:0070189)2.60012684
123CENP-A containing nucleosome assembly (GO:0034080)2.59519184
124UTP biosynthetic process (GO:0006228)2.59397515
125IMP biosynthetic process (GO:0006188)2.59227089
126chromatin remodeling at centromere (GO:0031055)2.58938124
127detection of other organism (GO:0098543)2.58858041
128response to folic acid (GO:0051593)2.58746143
129deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.58494313
130CTP metabolic process (GO:0046036)2.58020383
131CTP biosynthetic process (GO:0006241)2.58020383
132ADP metabolic process (GO:0046031)2.58017477
133regulation of metalloenzyme activity (GO:0048552)2.57307781
134CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)2.56920605
135purine-containing compound salvage (GO:0043101)2.56579140
136positive regulation of T cell mediated cytotoxicity (GO:0001916)2.56430486
137response to xenobiotic stimulus (GO:0009410)2.56388041
138DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.56316505
139regulation of cilium movement (GO:0003352)2.56079959
140negative regulation of granulocyte differentiation (GO:0030853)2.56006262
141deoxyribonucleotide biosynthetic process (GO:0009263)2.55971958
142nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.55443027
143SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.55385451
144negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class 2.55376237
145pteridine-containing compound biosynthetic process (GO:0042559)2.55071411
146positive regulation of macrophage differentiation (GO:0045651)2.54769648
147tRNA processing (GO:0008033)2.54750917
148myeloid dendritic cell activation (GO:0001773)2.54329845
149glutathione derivative metabolic process (GO:1901685)2.53571095
150glutathione derivative biosynthetic process (GO:1901687)2.53571095
151regulation of T cell receptor signaling pathway (GO:0050856)2.53009883
152dendritic cell migration (GO:0036336)2.52975699
153telomere maintenance via recombination (GO:0000722)2.50948362
154negative regulation of myotube differentiation (GO:0010832)2.49659743
155cotranslational protein targeting to membrane (GO:0006613)2.49597490
156regulation of growth of symbiont in host (GO:0044126)2.48912328
157negative regulation of growth of symbiont in host (GO:0044130)2.48912328
158negative regulation of growth of symbiont involved in interaction with host (GO:0044146)2.48912328
159modulation of growth of symbiont involved in interaction with host (GO:0044144)2.48912328
160positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.48703700
161viral transcription (GO:0019083)2.48248517
162mesenchymal cell differentiation involved in kidney development (GO:0072161)2.48023206
163mesenchymal cell differentiation involved in renal system development (GO:2001012)2.48023206
164positive regulation of cellular amine metabolic process (GO:0033240)2.47882579
165granulocyte activation (GO:0036230)2.47780413
166detection of bacterium (GO:0016045)2.47591884
167platelet dense granule organization (GO:0060155)2.47445927
168positive regulation of antigen processing and presentation (GO:0002579)2.47193802
169protein targeting to ER (GO:0045047)2.46639557
170Arp2/3 complex-mediated actin nucleation (GO:0034314)2.46224694
171sphingoid metabolic process (GO:0046519)2.45736327
172postsynaptic membrane organization (GO:0001941)2.44036536
173positive regulation of T cell migration (GO:2000406)2.43865047
174negative regulation of nitric oxide biosynthetic process (GO:0045019)2.43134606
175regulation of antigen processing and presentation (GO:0002577)2.40902733
176regulation of RIG-I signaling pathway (GO:0039535)2.40295628
177regulation of T cell migration (GO:2000404)2.40070200
178ribosomal small subunit biogenesis (GO:0042274)2.38204562
179regulation of interleukin-6 biosynthetic process (GO:0045408)2.38005723
180cellular response to exogenous dsRNA (GO:0071360)2.37162001
181response to protozoan (GO:0001562)2.36442155
182protein localization to endoplasmic reticulum (GO:0070972)2.36108784
183generation of neurons (GO:0048699)2.34287594
184negative regulation of metanephros development (GO:0072217)2.33825551
185GDP-mannose metabolic process (GO:0019673)2.33567268
186C-terminal protein amino acid modification (GO:0018410)2.32992855
187presynaptic membrane assembly (GO:0097105)2.32154032
188cellular response to type I interferon (GO:0071357)2.32095969
189type I interferon signaling pathway (GO:0060337)2.32095969
190B cell mediated immunity (GO:0019724)2.31722432
191N-acetylneuraminate metabolic process (GO:0006054)2.31700655
192cellular response to interferon-beta (GO:0035458)2.31308671

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1SOX9_22984422_ChIP-ChIP_TESTIS_Rat4.39561441
2BP1_19119308_ChIP-ChIP_Hs578T_Human3.89453003
3IRF8_22096565_ChIP-ChIP_GC-B_Human3.81339330
4MYC_18555785_ChIP-Seq_MESCs_Mouse3.70887202
5IRF8_21731497_ChIP-ChIP_J774_Mouse3.41492480
6ETS1_20019798_ChIP-Seq_JURKAT_Human3.38518791
7EZH2_22144423_ChIP-Seq_EOC_Human3.16232001
8ELF1_17652178_ChIP-ChIP_JURKAT_Human3.10078835
9IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.06985954
10EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.04835491
11CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.99466332
12CREB1_15753290_ChIP-ChIP_HEK293T_Human2.97381012
13MYC_18358816_ChIP-ChIP_MESCs_Mouse2.90971789
14CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.70671242
15* MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.70134904
16CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.64256970
17FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.60409628
18NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.59740588
19SCL_19346495_ChIP-Seq_HPC-7_Human2.59331488
20IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.57101272
21LYL1_20887958_ChIP-Seq_HPC-7_Mouse2.52036685
22DCP1A_22483619_ChIP-Seq_HELA_Human2.50718660
23RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.42964349
24NOTCH1_21737748_ChIP-Seq_TLL_Human2.42369092
25E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.41178392
26SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.40530264
27GABP_19822575_ChIP-Seq_HepG2_Human2.37482842
28MYC_19030024_ChIP-ChIP_MESCs_Mouse2.36867157
29FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.35364129
30* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.32947684
31E2F1_18555785_ChIP-Seq_MESCs_Mouse2.29511400
32FOXP3_21729870_ChIP-Seq_TREG_Human2.24074984
33PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.20577469
34STAT4_19710469_ChIP-ChIP_TH1__Mouse2.16799838
35THAP11_20581084_ChIP-Seq_MESCs_Mouse2.16382900
36IRF8_27001747_Chip-Seq_BMDM_Mouse2.15936497
37CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.13684121
38* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.11861036
39SPI1_23547873_ChIP-Seq_NB4_Human2.09357399
40PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.05291693
41HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.04694235
42MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.03907532
43KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.01170065
44NELFA_20434984_ChIP-Seq_ESCs_Mouse2.00324425
45MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.92462267
46GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.88818953
47PCGF2_27294783_Chip-Seq_ESCs_Mouse1.88510497
48IGF1R_20145208_ChIP-Seq_DFB_Human1.86105882
49GABP_17652178_ChIP-ChIP_JURKAT_Human1.85334130
50TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.82899508
51* MYB_21317192_ChIP-Seq_ERMYB_Mouse1.79521127
52MYC_19079543_ChIP-ChIP_MESCs_Mouse1.76163296
53* ERG_20887958_ChIP-Seq_HPC-7_Mouse1.71286842
54TTF2_22483619_ChIP-Seq_HELA_Human1.70397023
55E2F4_17652178_ChIP-ChIP_JURKAT_Human1.68361452
56* LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.68262637
57HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.66991924
58JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.66451424
59XRN2_22483619_ChIP-Seq_HELA_Human1.66369053
60STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.66329594
61* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.65286234
62TFEB_21752829_ChIP-Seq_HELA_Human1.65206963
63TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.61915611
64STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.61462938
65FLI1_27457419_Chip-Seq_LIVER_Mouse1.59803656
66IRF1_19129219_ChIP-ChIP_H3396_Human1.59381126
67SRF_21415370_ChIP-Seq_HL-1_Mouse1.57289128
68MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.53477574
69ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.51768782
70FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.51306640
71KDM5A_27292631_Chip-Seq_BREAST_Human1.49875349
72E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.48888358
73ZNF263_19887448_ChIP-Seq_K562_Human1.48163606
74ZFX_18555785_ChIP-Seq_MESCs_Mouse1.47894513
75HOXB4_20404135_ChIP-ChIP_EML_Mouse1.45924156
76YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.45314065
77NFE2_27457419_Chip-Seq_LIVER_Mouse1.44397047
78SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.44193353
79BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.42879151
80E2F1_21310950_ChIP-Seq_MCF-7_Human1.41971763
81FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.41896384
82MYCN_18555785_ChIP-Seq_MESCs_Mouse1.39877944
83TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.39453129
84SUZ12_27294783_Chip-Seq_NPCs_Mouse1.36892615
85VDR_24763502_ChIP-Seq_THP-1_Human1.35371411
86RUNX_20019798_ChIP-Seq_JUKART_Human1.32035042
87GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.31646576
88EZH2_27294783_Chip-Seq_NPCs_Mouse1.28805146
89CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.28641146
90AR_21909140_ChIP-Seq_LNCAP_Human1.28270214
91PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.28061634
92* MYB_26560356_Chip-Seq_TH2_Human1.26773185
93PADI4_21655091_ChIP-ChIP_MCF-7_Human1.25043746
94FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.21577219
95BMI1_23680149_ChIP-Seq_NPCS_Mouse1.21181580
96EST1_17652178_ChIP-ChIP_JURKAT_Human1.20913543
97PU_27001747_Chip-Seq_BMDM_Mouse1.20774181
98ZFP57_27257070_Chip-Seq_ESCs_Mouse1.19727050
99RUNX1_22412390_ChIP-Seq_EML_Mouse1.18427565
100STAT3_18555785_Chip-Seq_ESCs_Mouse1.17732572
101HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.15966574
102FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.15680594
103RUNX1_27457419_Chip-Seq_LIVER_Mouse1.15615201
104NMYC_18555785_Chip-Seq_ESCs_Mouse1.14794703
105CTCF_18555785_ChIP-Seq_MESCs_Mouse1.14218399
106PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.13733312
107ELF5_23300383_ChIP-Seq_T47D_Human1.13329927
108* VDR_23849224_ChIP-Seq_CD4+_Human1.12471066
109CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.11951387
110SUZ12_18555785_Chip-Seq_ESCs_Mouse1.11935197
111PCGF2_27294783_Chip-Seq_NPCs_Mouse1.11856493
112* GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.11772318
113CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.11626602
114HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.11524852
115TBX5_21415370_ChIP-Seq_HL-1_Mouse1.11472144
116E2F7_22180533_ChIP-Seq_HELA_Human1.09391522
117PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.08845927
118DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.08727433
119P53_22387025_ChIP-Seq_ESCs_Mouse1.08674704
120ZNF274_21170338_ChIP-Seq_K562_Hela1.08489837
121GBX2_23144817_ChIP-Seq_PC3_Human1.08001694
122EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.06612064
123ELK1_19687146_ChIP-ChIP_HELA_Human1.06343428
124CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.06208075
125SMAD_19615063_ChIP-ChIP_OVARY_Human1.04966112
126CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.04319092
127EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.03060319
128P300_18555785_Chip-Seq_ESCs_Mouse1.01260511
129SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.01259330
130POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.99462272
131STAT1_20625510_ChIP-Seq_HELA_Human0.98696056
132CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.97615652
133Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.97584478
134ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.95687269
135* STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.95385908
136ZFX_18555785_Chip-Seq_ESCs_Mouse0.95221927
137OCT4_18555785_Chip-Seq_ESCs_Mouse0.94140717
138POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.93994067
139GATA2_22383799_ChIP-Seq_G1ME_Mouse0.93126592
140PU1_27457419_Chip-Seq_LIVER_Mouse0.92926805
141PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.92709434
142ESRRB_18555785_Chip-Seq_ESCs_Mouse0.92278753
143MYB_26560356_Chip-Seq_TH1_Human0.92193976
144* ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.91956225
145CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.91469794
146NANOG_18555785_Chip-Seq_ESCs_Mouse0.91045967
147* EWS_26573619_Chip-Seq_HEK293_Human0.90944707
148PU.1_20513432_ChIP-Seq_Bcells_Mouse0.90887428
149SMAD1_18555785_Chip-Seq_ESCs_Mouse0.90780820
150SOX2_18555785_Chip-Seq_ESCs_Mouse0.90558731
151SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.89557039
152MYC_18940864_ChIP-ChIP_HL60_Human0.89374846
153YY1_21170310_ChIP-Seq_MESCs_Mouse0.89198413
154AR_20517297_ChIP-Seq_VCAP_Human0.88926953
155RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.88716842
156VDR_22108803_ChIP-Seq_LS180_Human0.88328778
157* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.86748500
158PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.84538766
159TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.83507566
160FOXP1_21924763_ChIP-Seq_HESCs_Human0.83031906
161EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.82408513
162CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.81551283
163MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.78691681
164EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.75296951
165ELK1_22589737_ChIP-Seq_MCF10A_Human0.75143793
166CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.73629810
167TP53_22573176_ChIP-Seq_HFKS_Human0.70148109

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003806_abnormal_nucleotide_metabolis5.31321766
2MP0009697_abnormal_copulation3.78627285
3MP0002837_dystrophic_cardiac_calcinosis3.46021140
4MP0009379_abnormal_foot_pigmentation3.38612285
5MP0003136_yellow_coat_color3.34762243
6MP0003724_increased_susceptibility_to3.14484036
7MP0001835_abnormal_antigen_presentation3.08777015
8MP0006292_abnormal_olfactory_placode3.02178915
9MP0001188_hyperpigmentation3.01110246
10MP0005174_abnormal_tail_pigmentation2.96415482
11MP0005409_darkened_coat_color2.88232549
12MP0009785_altered_susceptibility_to2.83221538
13MP0006036_abnormal_mitochondrial_physio2.82295375
14MP0000015_abnormal_ear_pigmentation2.81034365
15MP0008875_abnormal_xenobiotic_pharmacok2.75747113
16MP0002148_abnormal_hypersensitivity_rea2.66694209
17MP0008260_abnormal_autophagy2.61863744
18MP0004381_abnormal_hair_follicle2.58255460
19MP0005671_abnormal_response_to2.51582343
20MP0001764_abnormal_homeostasis2.47957745
21MP0003718_maternal_effect2.44903285
22MP0010094_abnormal_chromosome_stability2.41517848
23MP0001986_abnormal_taste_sensitivity2.31784765
24MP0003195_calcinosis2.28898111
25MP0005075_abnormal_melanosome_morpholog2.27765561
26MP0003436_decreased_susceptibility_to2.26538897
27MP0005025_abnormal_response_to2.23643128
28MP0005000_abnormal_immune_tolerance2.23510758
29MP0002419_abnormal_innate_immunity2.18249451
30MP0003763_abnormal_thymus_physiology2.14956247
31MP0003656_abnormal_erythrocyte_physiolo2.13843824
32MP0006035_abnormal_mitochondrial_morpho2.11416444
33MP0000372_irregular_coat_pigmentation2.07073385
34MP0000685_abnormal_immune_system2.04102566
35MP0002723_abnormal_immune_serum1.88939399
36MP0002452_abnormal_antigen_presenting1.87469249
37MP0009333_abnormal_splenocyte_physiolog1.87378487
38MP0001800_abnormal_humoral_immune1.87352651
39MP0005646_abnormal_pituitary_gland1.84844016
40MP0002420_abnormal_adaptive_immunity1.83809094
41MP0001819_abnormal_immune_cell1.82650740
42MP0004957_abnormal_blastocyst_morpholog1.82543132
43MP0008057_abnormal_DNA_replication1.82343523
44MP0005387_immune_system_phenotype1.78829946
45MP0001790_abnormal_immune_system1.78829946
46MP0008007_abnormal_cellular_replicative1.74284557
47MP0002160_abnormal_reproductive_system1.72989263
48MP0002095_abnormal_skin_pigmentation1.71976585
49MP0000358_abnormal_cell_content/1.63657374
50MP0002277_abnormal_respiratory_mucosa1.62846074
51MP0002876_abnormal_thyroid_physiology1.59770961
52MP0000490_abnormal_crypts_of1.57520941
53MP0000681_abnormal_thyroid_gland1.56090353
54MP0001529_abnormal_vocalization1.54659611
55MP0002139_abnormal_hepatobiliary_system1.48743202
56MP0005464_abnormal_platelet_physiology1.46560430
57MP0000465_gastrointestinal_hemorrhage1.46503778
58MP0005410_abnormal_fertilization1.45593945
59MP0006082_CNS_inflammation1.43065270
60MP0008932_abnormal_embryonic_tissue1.42064582
61MP0002132_abnormal_respiratory_system1.41849525
62MP0009840_abnormal_foam_cell1.40785278
63MP0001545_abnormal_hematopoietic_system1.40118251
64MP0003111_abnormal_nucleus_morphology1.40079404
65MP0000716_abnormal_immune_system1.39613571
66MP0001853_heart_inflammation1.38847000
67MP0001727_abnormal_embryo_implantation1.38121800
68MP0002405_respiratory_system_inflammati1.38050646
69MP0003075_altered_response_to1.37362796
70MP0002398_abnormal_bone_marrow1.36363013
71MP0002877_abnormal_melanocyte_morpholog1.35546124
72MP0000566_synostosis1.34418488
73MP0002933_joint_inflammation1.31448999
74MP0005636_abnormal_mineral_homeostasis1.31441186
75MP0002638_abnormal_pupillary_reflex1.29109892
76MP0005165_increased_susceptibility_to1.27273889
77MP0003077_abnormal_cell_cycle1.24469869
78MP0002396_abnormal_hematopoietic_system1.22243074
79MP0003303_peritoneal_inflammation1.20924962
80MP0008789_abnormal_olfactory_epithelium1.20147377
81MP0001845_abnormal_inflammatory_respons1.18861124
82MP0004043_abnormal_pH_regulation1.18586348
83MP0010155_abnormal_intestine_physiology1.17774722
84MP0003646_muscle_fatigue1.17643605
85MP0001881_abnormal_mammary_gland1.16694920
86MP0002102_abnormal_ear_morphology1.16188371
87MP0000689_abnormal_spleen_morphology1.15761775
88MP0001873_stomach_inflammation1.15059291
89MP0010307_abnormal_tumor_latency1.14601736
90MP0000858_altered_metastatic_potential1.14469552
91MP0002006_tumorigenesis1.13567045
92MP0002166_altered_tumor_susceptibility1.13377902
93MP0002429_abnormal_blood_cell1.12298110
94MP0001533_abnormal_skeleton_physiology1.11821823
95MP0000613_abnormal_salivary_gland1.09854021
96MP0002254_reproductive_system_inflammat1.09724416
97MP0002009_preneoplasia1.09529370
98MP0002722_abnormal_immune_system1.08749364
99MP0005171_absent_coat_pigmentation1.07630322
100MP0005501_abnormal_skin_physiology1.05812864
101MP0008469_abnormal_protein_level1.01887828
102MP0002177_abnormal_outer_ear1.01707864
103MP0003172_abnormal_lysosome_physiology1.01659994
104MP0005084_abnormal_gallbladder_morpholo1.01361870
105MP0005395_other_phenotype1.01280130
106MP0005647_abnormal_sex_gland1.00459584
107MP0005389_reproductive_system_phenotype0.99631899
108MP0005332_abnormal_amino_acid0.99118428
109MP0009764_decreased_sensitivity_to0.98024601
110MP0005058_abnormal_lysosome_morphology0.97817655
111MP0004782_abnormal_surfactant_physiolog0.97141088
112MP0000678_abnormal_parathyroid_gland0.95997748
113MP0002796_impaired_skin_barrier0.95968312
114MP0005379_endocrine/exocrine_gland_phen0.95597633
115MP0001984_abnormal_olfaction0.93226959
116MP0002938_white_spotting0.92338202
117MP0001542_abnormal_bone_strength0.91580267
118MP0008058_abnormal_DNA_repair0.91029329
119MP0002751_abnormal_autonomic_nervous0.89798821
120MP0000049_abnormal_middle_ear0.89187640
121MP0005257_abnormal_intraocular_pressure0.88168637
122MP0005310_abnormal_salivary_gland0.88097681
123MP0002998_abnormal_bone_remodeling0.87813067
124MP0002090_abnormal_vision0.87574858
125MP0005365_abnormal_bile_salt0.86782200
126MP0008004_abnormal_stomach_pH0.85513450
127MP0000313_abnormal_cell_death0.84796016
128MP0002163_abnormal_gland_morphology0.84562501
129MP0004133_heterotaxia0.84204125
130MP0003866_abnormal_defecation0.83054304
131MP0005376_homeostasis/metabolism_phenot0.83033047
132MP0000604_amyloidosis0.82255875
133MP0003011_delayed_dark_adaptation0.81833292
134MP0005319_abnormal_enzyme/_coenzyme0.81647001
135MP0001663_abnormal_digestive_system0.81517802
136MP0001346_abnormal_lacrimal_gland0.80987246
137MP0003786_premature_aging0.80853652
138MP0001186_pigmentation_phenotype0.80118379
139MP0001905_abnormal_dopamine_level0.79924281
140MP0003880_abnormal_central_pattern0.79832038
141MP0005330_cardiomyopathy0.77835624
142MP0005645_abnormal_hypothalamus_physiol0.77231623
143MP0009278_abnormal_bone_marrow0.77092771
144MP0000343_altered_response_to0.76981192
145MP0003315_abnormal_perineum_morphology0.76222711
146MP0005266_abnormal_metabolism0.75730901
147MP0003186_abnormal_redox_activity0.73698882
148MP0005584_abnormal_enzyme/coenzyme_acti0.71537304
149MP0004147_increased_porphyrin_level0.71482125
150MP0001919_abnormal_reproductive_system0.70998517
151MP0008873_increased_physiological_sensi0.70883306
152MP0003693_abnormal_embryo_hatching0.70513586
153MP0003183_abnormal_peptide_metabolism0.70360425
154MP0003828_pulmonary_edema0.70277457
155MP0000703_abnormal_thymus_morphology0.70125938
156MP0002075_abnormal_coat/hair_pigmentati0.69744675
157MP0001485_abnormal_pinna_reflex0.69697842
158MP0005220_abnormal_exocrine_pancreas0.68101125
159MP0001929_abnormal_gametogenesis0.67650742
160MP0010386_abnormal_urinary_bladder0.67402925
161MP0003448_altered_tumor_morphology0.66346607
162MP0001851_eye_inflammation0.65812194
163MP0005397_hematopoietic_system_phenotyp0.65768685
164MP0000427_abnormal_hair_cycle0.63694304
165MP0002019_abnormal_tumor_incidence0.63427322
166MP0000647_abnormal_sebaceous_gland0.61871422
167MP0001191_abnormal_skin_condition0.61034468
168MP0000627_abnormal_mammary_gland0.58433012
169MP0006072_abnormal_retinal_apoptosis0.58239224
170MP0004215_abnormal_myocardial_fiber0.57822172
171MP0008872_abnormal_physiological_respon0.56908738
172MP0000598_abnormal_liver_morphology0.55743716

Predicted human phenotypes

RankGene SetZ-score
1Acute necrotizing encephalopathy (HP:0006965)4.45175756
2* Type I transferrin isoform profile (HP:0003642)4.41484842
3Abnormality of liposaccharide metabolism (HP:0010968)4.31888600
4Abnormality of glycosphingolipid metabolism (HP:0004343)4.31888600
5Abnormality of glycolipid metabolism (HP:0010969)4.31888600
6Abnormal mitochondria in muscle tissue (HP:0008316)4.27468826
7Acute encephalopathy (HP:0006846)4.21630320
8Mitochondrial inheritance (HP:0001427)4.11400524
9Recurrent abscess formation (HP:0002722)4.03493698
10Increased CSF lactate (HP:0002490)3.95829340
11Progressive macrocephaly (HP:0004481)3.54084850
12Chronic obstructive pulmonary disease (HP:0006510)3.47009890
13Obstructive lung disease (HP:0006536)3.47009890
14Elevated erythrocyte sedimentation rate (HP:0003565)3.40560423
15Hyperglycinemia (HP:0002154)3.39482999
16Hypothermia (HP:0002045)3.37715020
17Recurrent bacterial skin infections (HP:0005406)3.31502376
18* Reduced antithrombin III activity (HP:0001976)3.29338618
19Eczematoid dermatitis (HP:0000976)3.26608138
20Myositis (HP:0100614)3.25220306
21Stomatitis (HP:0010280)3.14792630
22Absent rod-and cone-mediated responses on ERG (HP:0007688)3.14595278
23Mediastinal lymphadenopathy (HP:0100721)3.11928766
24* Abnormal protein glycosylation (HP:0012346)3.07800256
25* Abnormal glycosylation (HP:0012345)3.07800256
26* Abnormal isoelectric focusing of serum transferrin (HP:0003160)3.07800256
27* Abnormal protein N-linked glycosylation (HP:0012347)3.07800256
28Meningitis (HP:0001287)3.06902952
29Cerebral edema (HP:0002181)2.98960259
30Thyroid-stimulating hormone excess (HP:0002925)2.92956983
31Respiratory failure (HP:0002878)2.92349286
32Lactic acidosis (HP:0003128)2.90889447
33Increased neuronal autofluorescent lipopigment (HP:0002074)2.89292784
34Increased serum lactate (HP:0002151)2.89062226
35Abnormality of dicarboxylic acid metabolism (HP:0010995)2.87534402
36Dicarboxylic aciduria (HP:0003215)2.87534402
37Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.82543599
38Increased cerebral lipofuscin (HP:0011813)2.82492721
39Vacuolated lymphocytes (HP:0001922)2.80704930
40Renal Fanconi syndrome (HP:0001994)2.79921255
41Decreased activity of mitochondrial respiratory chain (HP:0008972)2.77391890
42Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.77391890
43Retrobulbar optic neuritis (HP:0100654)2.77377351
44Optic neuritis (HP:0100653)2.77377351
45Exertional dyspnea (HP:0002875)2.77141513
46Chronic mucocutaneous candidiasis (HP:0002728)2.73190178
47Recurrent cutaneous fungal infections (HP:0011370)2.73190178
48Increased hepatocellular lipid droplets (HP:0006565)2.71861578
49Abnormality of the prostate (HP:0008775)2.68504247
50Methylmalonic aciduria (HP:0012120)2.65665627
51Recurrent skin infections (HP:0001581)2.63787929
52Aplastic anemia (HP:0001915)2.63355474
53Abnormality of macrophages (HP:0004311)2.62869114
54Reticulocytopenia (HP:0001896)2.62617829
55Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.62140282
56Abnormality of alanine metabolism (HP:0010916)2.62140282
57Hyperalaninemia (HP:0003348)2.62140282
58Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.61435920
59Generalized aminoaciduria (HP:0002909)2.60501224
60Multiple enchondromatosis (HP:0005701)2.58132401
61Lethargy (HP:0001254)2.56939026
62Aplasia/Hypoplasia of the sacrum (HP:0008517)2.55565218
63Orchitis (HP:0100796)2.55342001
64Chromosomal breakage induced by crosslinking agents (HP:0003221)2.51119480
653-Methylglutaconic aciduria (HP:0003535)2.48733130
66Dry hair (HP:0011359)2.48526183
67Nonprogressive disorder (HP:0003680)2.46344388
68Petechiae (HP:0000967)2.45283563
69Abnormal number of erythroid precursors (HP:0012131)2.44757699
70Methylmalonic acidemia (HP:0002912)2.44423813
71CNS demyelination (HP:0007305)2.43457585
72Parakeratosis (HP:0001036)2.43255093
73Increased serum pyruvate (HP:0003542)2.39825533
74Nausea (HP:0002018)2.39230505
75Opisthotonus (HP:0002179)2.38975139
76Increased muscle lipid content (HP:0009058)2.38223276
77Hyperammonemia (HP:0001987)2.36502065
78Abnormality of cells of the erythroid lineage (HP:0012130)2.35801929
79Abnormality of magnesium homeostasis (HP:0004921)2.34263284
80True hermaphroditism (HP:0010459)2.32726254
81Recurrent fungal infections (HP:0002841)2.31499584
82Loss of speech (HP:0002371)2.30703302
83Increased intramyocellular lipid droplets (HP:0012240)2.30056969
84Cheilitis (HP:0100825)2.28458371
85Mutism (HP:0002300)2.28394263
86Vasculitis (HP:0002633)2.26169869
87Abnormality of serum amino acid levels (HP:0003112)2.26070237
88Severe visual impairment (HP:0001141)2.24884947
89Abnormal rod and cone electroretinograms (HP:0008323)2.24210034
90Recurrent gram-negative bacterial infections (HP:0005420)2.23750986
91Microretrognathia (HP:0000308)2.23471621
92Dysostosis multiplex (HP:0000943)2.23074978
93Abnormality of serine family amino acid metabolism (HP:0010894)2.23023742
94Abnormality of glycine metabolism (HP:0010895)2.23023742
95Lipid accumulation in hepatocytes (HP:0006561)2.22734981
96Hemoptysis (HP:0002105)2.22196091
97Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.21648046
98Chromsome breakage (HP:0040012)2.21547001
99Testicular atrophy (HP:0000029)2.18567059
100IgM deficiency (HP:0002850)2.17857239
101Tubulointerstitial nephritis (HP:0001970)2.17520259
102Abnormal sex determination (HP:0012244)2.16425446
103Sex reversal (HP:0012245)2.16425446
104Medial flaring of the eyebrow (HP:0010747)2.16341838
105Basal ganglia calcification (HP:0002135)2.16104799
106Prolonged bleeding time (HP:0003010)2.15416446
107Aplasia/Hypoplasia of the fovea (HP:0008060)2.14636845
108Hypoplasia of the fovea (HP:0007750)2.14636845
109Exercise intolerance (HP:0003546)2.14256359
110Hepatocellular necrosis (HP:0001404)2.13337512
111Clubbing of toes (HP:0100760)2.12856133
112Abnormality of the axillary hair (HP:0100134)2.12804468
113Abnormality of secondary sexual hair (HP:0009888)2.12804468
114Patchy hypopigmentation of hair (HP:0011365)2.12320091
115Attenuation of retinal blood vessels (HP:0007843)2.11980506
116Ketosis (HP:0001946)2.09704716
117Recurrent pneumonia (HP:0006532)2.09394110
118Congenital primary aphakia (HP:0007707)2.08649776
119Agammaglobulinemia (HP:0004432)2.08366845
120Chronic otitis media (HP:0000389)2.06105211
121Microvesicular hepatic steatosis (HP:0001414)2.04703900
122Abnormality of renal resorption (HP:0011038)2.02539438
123Abnormality of mucopolysaccharide metabolism (HP:0011020)2.01022308
124Abnormality of polysaccharide metabolism (HP:0011012)2.01022308
125Abnormality of glycosaminoglycan metabolism (HP:0004371)2.01022308
126Abnormal delayed hypersensitivity skin test (HP:0002963)2.00754955
127Pulmonary fibrosis (HP:0002206)2.00466145
128Type 2 muscle fiber atrophy (HP:0003554)2.00274283
129Pulmonary infiltrates (HP:0002113)1.98639930
130Decreased electroretinogram (ERG) amplitude (HP:0000654)1.98066808
131Abnormality of the preputium (HP:0100587)1.97846481
132Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.97549551
133White forelock (HP:0002211)1.96404265
134Abnormality of glycolysis (HP:0004366)1.95192444
135Metaphyseal dysplasia (HP:0100255)1.94687482
136Gait imbalance (HP:0002141)1.93008615
137Thrombocytosis (HP:0001894)1.92585545
138Progressive neurologic deterioration (HP:0002344)1.90965925
139Nephrogenic diabetes insipidus (HP:0009806)1.88659673
140Epistaxis (HP:0000421)1.88400244
141Hyperglycinuria (HP:0003108)1.86965237
142Optic disc pallor (HP:0000543)1.85770051
143B lymphocytopenia (HP:0010976)1.83137088
144Muscle fiber atrophy (HP:0100295)1.82939499
145Gliosis (HP:0002171)1.82803268
146Abnormality of dental color (HP:0011073)1.82387809
147Prostate neoplasm (HP:0100787)1.82107014
148Mucopolysacchariduria (HP:0008155)1.81589726
149Urinary glycosaminoglycan excretion (HP:0003541)1.81589726
150Increased IgM level (HP:0003496)1.81351817
151Pancytopenia (HP:0001876)1.81265532
152Metabolic acidosis (HP:0001942)1.81108557
153Encephalitis (HP:0002383)1.80961673
154Vomiting (HP:0002013)1.80403091
155Hypoplasia of the uterus (HP:0000013)1.80253484
156Beaking of vertebral bodies (HP:0004568)1.79680861
157Prolonged neonatal jaundice (HP:0006579)1.78990743
158Recurrent lower respiratory tract infections (HP:0002783)1.78807536
159Abnormality of T cell physiology (HP:0011840)1.78785229
160Aplasia/Hypoplasia of the uvula (HP:0010293)1.78722483
161Meckel diverticulum (HP:0002245)1.78614309
162Poor head control (HP:0002421)1.78545801
163Death in infancy (HP:0001522)1.77549312
164Abnormality of DNA repair (HP:0003254)1.77430981
165Renal tubular dysfunction (HP:0000124)1.77082513
166Hepatic necrosis (HP:0002605)1.76618971
167Abnormality of fatty-acid metabolism (HP:0004359)1.76540059
168Pancreatic fibrosis (HP:0100732)1.76136063
169Abnormality of B cell number (HP:0010975)1.75824710
170Congenital ichthyosiform erythroderma (HP:0007431)1.74816349
171Abnormality of the fovea (HP:0000493)1.73965617
172Abnormality of the anterior horn cell (HP:0006802)1.73732915
173Degeneration of anterior horn cells (HP:0002398)1.73732915
174Albinism (HP:0001022)1.73134998
175Ocular albinism (HP:0001107)1.72385144
176Panhypogammaglobulinemia (HP:0003139)1.71931524
177Pallor (HP:0000980)1.71914866

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TNIK5.44121690
2VRK24.56794617
3EIF2AK33.71006092
4BUB13.33371540
5NLK3.22225091
6SCYL23.14779348
7NME22.99321316
8IRAK42.99132833
9STK162.90191236
10CASK2.72429706
11MKNK22.66295257
12IRAK32.58781278
13BCKDK2.54889783
14MUSK2.33724293
15TEC2.14252004
16BLK2.08839911
17NUAK11.99890169
18TLK11.98900733
19TXK1.98576666
20EIF2AK11.88755721
21MAP3K141.82362459
22CSNK1G31.81758395
23EIF2AK21.78520101
24PIM21.78253076
25KIT1.76288807
26MKNK11.61671706
27CSNK1A1L1.59408587
28CLK11.59288831
29FES1.55440162
30ABL21.50189706
31TAF11.46837912
32BTK1.42266237
33YES11.41221017
34TTK1.40509959
35CAMKK21.39790104
36PRPF4B1.39464075
37IKBKE1.34641309
38MAP4K11.33278537
39IRAK11.32830888
40CDK191.32266629
41CSNK1G21.32237987
42FRK1.29189640
43IKBKB1.27143554
44ZAP701.24757787
45MAPKAPK31.18630966
46NME11.17027196
47CDC71.17006205
48MAP4K21.16681498
49DAPK11.15428279
50ADRBK21.14392904
51VRK11.14352791
52BMPR21.14224816
53MAP3K121.10159722
54IRAK21.06954037
55SRPK11.05545540
56TESK11.04432007
57LIMK11.04291167
58TBK11.04053261
59RIPK41.02782143
60TESK21.01403482
61SIK31.01053095
62CDK81.00205561
63AURKA0.98883476
64MAP2K70.97446888
65JAK30.96534473
66SYK0.95489163
67PRKD20.93679030
68TAOK20.93637245
69CHEK20.93331708
70TYK20.93247021
71PLK10.91361918
72LYN0.89957812
73BMPR1B0.83230062
74ATR0.82928464
75MAP3K30.82006051
76MAPK130.73016938
77MAP3K50.72847335
78DAPK30.72834338
79GRK70.72247494
80ZAK0.72194473
81MAPK150.71595102
82LCK0.71378702
83KDR0.70260989
84TAOK30.69442032
85PLK30.66839711
86MST40.66805365
87TGFBR20.65177115
88TNK20.64889666
89MAP2K30.64146212
90CAMK10.63863574
91PIM10.63841002
92NEK10.63490480
93PBK0.62611633
94CSK0.62518780
95CSF1R0.62328342
96CDK30.62222273
97PRKG20.62108039
98CSNK2A10.61854980
99WEE10.61551295
100HIPK20.60948759
101ERN10.58839887
102MAP3K110.57510104
103TGFBR10.57459220
104CSNK1G10.53435979
105HCK0.53432883
106BRSK20.51576983
107FLT30.51067899
108STK38L0.50587249
109PLK40.50232512
110GRK10.49850547
111EPHA30.49496236
112MAP3K130.49056437
113RPS6KB20.49025982
114CSNK2A20.48842320
115MAPKAPK50.48018462
116OXSR10.46826807
117PAK40.44816470
118ATM0.43845225
119TRIM280.42481524
120CDK70.42462989
121DYRK30.42178482
122CSNK1A10.42017878
123CAMK1D0.41688045
124SMG10.40687220
125MATK0.40653118
126ARAF0.40116416
127MAP2K60.39954559
128ITK0.39535905
129AURKB0.39465198
130RPS6KA50.38188719
131GRK50.36948603
132NEK60.36549345
133PIK3CG0.35629402
134MAP3K10.35581780
135TIE10.34814662
136STK240.34298507
137INSRR0.34169635
138TRPM70.34147572
139MAPK40.33933068
140WNK30.33228289
141STK100.33055063
142STK390.32130143
143BRAF0.31972795
144RPS6KA40.31074604
145PINK10.30818369
146PRKCD0.30292583
147PAK10.29840351
148ILK0.29826040
149EPHA20.29717111
150ADRBK10.29597076
151ACVR1B0.29253360
152DYRK20.27311530
153ABL10.27197023
154MOS0.26081944
155RPS6KA60.25649765
156CHUK0.25498933

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030102.88364117
2Protein export_Homo sapiens_hsa030602.83683741
3DNA replication_Homo sapiens_hsa030302.60693947
4Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.51398230
5Other glycan degradation_Homo sapiens_hsa005112.39976993
6Homologous recombination_Homo sapiens_hsa034402.23758858
7One carbon pool by folate_Homo sapiens_hsa006702.11302564
8Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.06299321
9Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.05722795
10Primary immunodeficiency_Homo sapiens_hsa053401.97119876
11Glutathione metabolism_Homo sapiens_hsa004801.88976992
12NF-kappa B signaling pathway_Homo sapiens_hsa040641.85695496
13Leishmaniasis_Homo sapiens_hsa051401.85525053
14Intestinal immune network for IgA production_Homo sapiens_hsa046721.83334552
15Huntingtons disease_Homo sapiens_hsa050161.82633665
16Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.81104003
17Graft-versus-host disease_Homo sapiens_hsa053321.80482888
18Fanconi anemia pathway_Homo sapiens_hsa034601.75966158
19Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.70825818
20RNA polymerase_Homo sapiens_hsa030201.69623326
21Allograft rejection_Homo sapiens_hsa053301.68429053
22Fatty acid elongation_Homo sapiens_hsa000621.63377761
23Alzheimers disease_Homo sapiens_hsa050101.62171046
24Asthma_Homo sapiens_hsa053101.61331133
25Hematopoietic cell lineage_Homo sapiens_hsa046401.61298319
26RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.60258401
27Base excision repair_Homo sapiens_hsa034101.55228227
28Sulfur metabolism_Homo sapiens_hsa009201.52906818
29Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.51466190
30Measles_Homo sapiens_hsa051621.50523575
31Sphingolipid metabolism_Homo sapiens_hsa006001.50034858
32Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.47832039
33Mismatch repair_Homo sapiens_hsa034301.46619661
34Cysteine and methionine metabolism_Homo sapiens_hsa002701.46100913
35Pyrimidine metabolism_Homo sapiens_hsa002401.45162581
36N-Glycan biosynthesis_Homo sapiens_hsa005101.42325827
37Basal transcription factors_Homo sapiens_hsa030221.42217273
38Selenocompound metabolism_Homo sapiens_hsa004501.40718531
39Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.40321679
40Malaria_Homo sapiens_hsa051441.36835667
41Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.34681584
42Toll-like receptor signaling pathway_Homo sapiens_hsa046201.30439986
43Nucleotide excision repair_Homo sapiens_hsa034201.28913764
44Arachidonic acid metabolism_Homo sapiens_hsa005901.28016704
45Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.27981664
46Butanoate metabolism_Homo sapiens_hsa006501.27962703
47Proteasome_Homo sapiens_hsa030501.27891852
48Autoimmune thyroid disease_Homo sapiens_hsa053201.26083196
49Collecting duct acid secretion_Homo sapiens_hsa049661.25949384
50Peroxisome_Homo sapiens_hsa041461.20595098
51Pertussis_Homo sapiens_hsa051331.15774094
52Herpes simplex infection_Homo sapiens_hsa051681.15334213
53Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.14941099
54SNARE interactions in vesicular transport_Homo sapiens_hsa041301.10882318
552-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.10705733
56Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.10136495
57NOD-like receptor signaling pathway_Homo sapiens_hsa046211.09042585
58Propanoate metabolism_Homo sapiens_hsa006401.08066314
59Jak-STAT signaling pathway_Homo sapiens_hsa046301.08036765
60Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.05288044
61Osteoclast differentiation_Homo sapiens_hsa043801.04766725
62RNA transport_Homo sapiens_hsa030131.04563720
63Metabolic pathways_Homo sapiens_hsa011001.04008274
64Rheumatoid arthritis_Homo sapiens_hsa053231.03768727
65Non-homologous end-joining_Homo sapiens_hsa034501.02214071
66Glycosaminoglycan degradation_Homo sapiens_hsa005310.99598592
67Chemical carcinogenesis_Homo sapiens_hsa052040.96894930
68Purine metabolism_Homo sapiens_hsa002300.96662033
69Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.95891592
70Drug metabolism - other enzymes_Homo sapiens_hsa009830.92478253
71Tuberculosis_Homo sapiens_hsa051520.91872944
72Regulation of autophagy_Homo sapiens_hsa041400.91830339
73Pyruvate metabolism_Homo sapiens_hsa006200.91340391
74Primary bile acid biosynthesis_Homo sapiens_hsa001200.91237554
75Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.89858025
76Transcriptional misregulation in cancer_Homo sapiens_hsa052020.88411864
77Folate biosynthesis_Homo sapiens_hsa007900.88208409
78Fatty acid metabolism_Homo sapiens_hsa012120.87660844
79Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.86768609
80Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.86759741
81Tryptophan metabolism_Homo sapiens_hsa003800.85657969
82Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.84762621
83Spliceosome_Homo sapiens_hsa030400.84149426
84beta-Alanine metabolism_Homo sapiens_hsa004100.80767998
85Staphylococcus aureus infection_Homo sapiens_hsa051500.80760809
86Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.80087602
87Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.80035887
88Antigen processing and presentation_Homo sapiens_hsa046120.79848088
89Oxidative phosphorylation_Homo sapiens_hsa001900.77925804
90Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.74744122
91Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.74440354
92Thyroid cancer_Homo sapiens_hsa052160.74175178
93Influenza A_Homo sapiens_hsa051640.73263749
94Cyanoamino acid metabolism_Homo sapiens_hsa004600.71655269
95Ether lipid metabolism_Homo sapiens_hsa005650.71067326
96Lysosome_Homo sapiens_hsa041420.70679424
97Tyrosine metabolism_Homo sapiens_hsa003500.70567113
98B cell receptor signaling pathway_Homo sapiens_hsa046620.70544087
99Fatty acid degradation_Homo sapiens_hsa000710.70501200
100RNA degradation_Homo sapiens_hsa030180.69712400
101Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.68851317
102Salmonella infection_Homo sapiens_hsa051320.66914475
103* Steroid hormone biosynthesis_Homo sapiens_hsa001400.66858504
104Phenylalanine metabolism_Homo sapiens_hsa003600.66029536
105Sulfur relay system_Homo sapiens_hsa041220.65930046
106Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.64543475
107Phagosome_Homo sapiens_hsa041450.64369980
108Legionellosis_Homo sapiens_hsa051340.63721123
109African trypanosomiasis_Homo sapiens_hsa051430.63668244
110Hepatitis B_Homo sapiens_hsa051610.63134056
111Cardiac muscle contraction_Homo sapiens_hsa042600.63054277
112Acute myeloid leukemia_Homo sapiens_hsa052210.62664292
113TNF signaling pathway_Homo sapiens_hsa046680.61806947
114p53 signaling pathway_Homo sapiens_hsa041150.61118650
115Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.60661885
116Apoptosis_Homo sapiens_hsa042100.58940092
117Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.58324693
118Carbon metabolism_Homo sapiens_hsa012000.57541196
119Shigellosis_Homo sapiens_hsa051310.57124988
120Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.56229354
121Chemokine signaling pathway_Homo sapiens_hsa040620.55505502
122Maturity onset diabetes of the young_Homo sapiens_hsa049500.55324166
123alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.53811135
124Arginine and proline metabolism_Homo sapiens_hsa003300.53796509
125Phototransduction_Homo sapiens_hsa047440.53165561
126T cell receptor signaling pathway_Homo sapiens_hsa046600.52661349
127Cell cycle_Homo sapiens_hsa041100.50967754
128Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.49750252
129Vibrio cholerae infection_Homo sapiens_hsa051100.48898482
130Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.48021454
131Toxoplasmosis_Homo sapiens_hsa051450.47046335
132Linoleic acid metabolism_Homo sapiens_hsa005910.46290035
133Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.45000970
134Type I diabetes mellitus_Homo sapiens_hsa049400.43604090
135Epstein-Barr virus infection_Homo sapiens_hsa051690.41963763
136Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.41598892
137Retinol metabolism_Homo sapiens_hsa008300.40903976
138Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.39873699
139Biosynthesis of amino acids_Homo sapiens_hsa012300.39556704
140Vitamin digestion and absorption_Homo sapiens_hsa049770.38867445
141Leukocyte transendothelial migration_Homo sapiens_hsa046700.38265485
142Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.37905273
143Pentose and glucuronate interconversions_Homo sapiens_hsa000400.37877348
144Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.36836226
145Hepatitis C_Homo sapiens_hsa051600.36580549
146Mineral absorption_Homo sapiens_hsa049780.36556901
147Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.35682890
148Systemic lupus erythematosus_Homo sapiens_hsa053220.32403944
149Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.31841171
150Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.31587015
151Nitrogen metabolism_Homo sapiens_hsa009100.31068097
152Steroid biosynthesis_Homo sapiens_hsa001000.30696838
153Parkinsons disease_Homo sapiens_hsa050120.30320388

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