PTRH1

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1behavioral response to nicotine (GO:0035095)5.49041094
2ribosome assembly (GO:0042255)4.83605549
3maturation of SSU-rRNA (GO:0030490)4.71736156
4purine nucleobase biosynthetic process (GO:0009113)4.62838912
5formation of translation preinitiation complex (GO:0001731)4.46447467
6DNA deamination (GO:0045006)4.35682013
7proteasome assembly (GO:0043248)4.32878336
8nucleobase biosynthetic process (GO:0046112)4.32613468
9epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.28969031
10cilium or flagellum-dependent cell motility (GO:0001539)4.28176228
11ribosome biogenesis (GO:0042254)4.21056131
12viral transcription (GO:0019083)4.18935207
13translational termination (GO:0006415)4.16865555
14translational initiation (GO:0006413)4.12004558
15ribosomal small subunit biogenesis (GO:0042274)4.11428383
16protein complex biogenesis (GO:0070271)4.08644685
17ribosomal large subunit biogenesis (GO:0042273)4.07935659
18ribonucleoprotein complex biogenesis (GO:0022613)4.07050300
19axoneme assembly (GO:0035082)4.02754651
20mannosylation (GO:0097502)4.02121855
21detection of light stimulus involved in sensory perception (GO:0050962)4.01696520
22detection of light stimulus involved in visual perception (GO:0050908)4.01696520
23folic acid transport (GO:0015884)4.00769216
24folic acid metabolic process (GO:0046655)3.99940373
25positive regulation of mitochondrial fission (GO:0090141)3.99871617
26regulation of cilium movement (GO:0003352)3.99172843
27mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.94877502
28mitochondrial respiratory chain complex I assembly (GO:0032981)3.94877502
29NADH dehydrogenase complex assembly (GO:0010257)3.94877502
30termination of RNA polymerase III transcription (GO:0006386)3.91843523
31transcription elongation from RNA polymerase III promoter (GO:0006385)3.91843523
32epithelial cilium movement (GO:0003351)3.91396167
33ubiquinone biosynthetic process (GO:0006744)3.90684032
34response to pheromone (GO:0019236)3.85426228
35translational elongation (GO:0006414)3.79615564
36mitochondrial respiratory chain complex assembly (GO:0033108)3.71007143
37cilium movement (GO:0003341)3.70987634
38regulation of G0 to G1 transition (GO:0070316)3.67552095
39axonemal dynein complex assembly (GO:0070286)3.67048169
40negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.63552455
41SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.61583594
42protein polyglutamylation (GO:0018095)3.59905413
43positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.58169645
44preassembly of GPI anchor in ER membrane (GO:0016254)3.56826780
45protein targeting to ER (GO:0045047)3.52892158
46respiratory chain complex IV assembly (GO:0008535)3.49981833
47cotranslational protein targeting to membrane (GO:0006613)3.49445629
48ubiquinone metabolic process (GO:0006743)3.48856465
49regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.47773224
50nucleobase-containing small molecule interconversion (GO:0015949)3.47522773
51anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.46169959
52termination of RNA polymerase I transcription (GO:0006363)3.45106142
53cellular protein complex disassembly (GO:0043624)3.44379791
54viral life cycle (GO:0019058)3.41232665
55detection of chemical stimulus involved in sensory perception of smell (GO:0050911)3.39615524
56platelet dense granule organization (GO:0060155)3.38475466
57energy coupled proton transport, down electrochemical gradient (GO:0015985)3.38144664
58ATP synthesis coupled proton transport (GO:0015986)3.38144664
59protein localization to endoplasmic reticulum (GO:0070972)3.38011422
60kynurenine metabolic process (GO:0070189)3.37960271
61negative regulation of ligase activity (GO:0051352)3.37740212
62negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.37740212
63rRNA processing (GO:0006364)3.36961801
64rRNA modification (GO:0000154)3.35675764
65translation (GO:0006412)3.35511821
66establishment of protein localization to endoplasmic reticulum (GO:0072599)3.35173901
67nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.33757805
68transcription from RNA polymerase I promoter (GO:0006360)3.33608342
69ribosomal small subunit assembly (GO:0000028)3.31050026
70positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.30270554
71cellular ketone body metabolic process (GO:0046950)3.30247851
72cytochrome complex assembly (GO:0017004)3.29967483
73mitotic metaphase plate congression (GO:0007080)3.28278627
74cornea development in camera-type eye (GO:0061303)3.26581855
75rRNA metabolic process (GO:0016072)3.24082861
767-methylguanosine mRNA capping (GO:0006370)3.21531949
77regulation of cellular amino acid metabolic process (GO:0006521)3.21385826
78protein K11-linked deubiquitination (GO:0035871)3.20482470
79DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.19918295
80regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.18053055
81response to misfolded protein (GO:0051788)3.17661491
82positive regulation of ligase activity (GO:0051351)3.17574864
83mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.16792468
84protein-cofactor linkage (GO:0018065)3.16640195
85signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.14568832
86signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.14568832
87signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.14568832
88signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.13143367
89intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.13143367
90signal transduction involved in DNA damage checkpoint (GO:0072422)3.12102228
91signal transduction involved in DNA integrity checkpoint (GO:0072401)3.12102228
92indolalkylamine metabolic process (GO:0006586)3.11401113
93blastocyst development (GO:0001824)3.10221122
94pseudouridine synthesis (GO:0001522)3.08710709
95estrogen biosynthetic process (GO:0006703)3.07552053
96RNA capping (GO:0036260)3.07173922
977-methylguanosine RNA capping (GO:0009452)3.07173922
98antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.06820543
99regulation of spindle organization (GO:0090224)3.05637320
100transcription elongation from RNA polymerase I promoter (GO:0006362)3.05616299
101guanosine-containing compound biosynthetic process (GO:1901070)3.05586587
102signal transduction involved in cell cycle checkpoint (GO:0072395)3.04498345
103quinone biosynthetic process (GO:1901663)3.04114796
104GDP-mannose metabolic process (GO:0019673)3.04085395
105regulation of histone phosphorylation (GO:0033127)3.03936771
106chondrocyte proliferation (GO:0035988)3.02645868
107regulation of translational termination (GO:0006449)3.01825630
108tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.01207169
109RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.01207169
110retinal cone cell development (GO:0046549)3.00825272
111transcription initiation from RNA polymerase I promoter (GO:0006361)3.00400672
112C-terminal protein lipidation (GO:0006501)2.98647879
113regulation of integrin-mediated signaling pathway (GO:2001044)2.98475067
114antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)2.97580357
115ketone body metabolic process (GO:1902224)2.96513165
116protein deneddylation (GO:0000338)2.96418604
117G1/S transition of mitotic cell cycle (GO:0000082)2.96031318
118cell cycle G1/S phase transition (GO:0044843)2.96031318
119positive regulation of prostaglandin secretion (GO:0032308)2.93692302
120skin morphogenesis (GO:0043589)2.92587871
121cellular component biogenesis (GO:0044085)2.92364893
122tRNA modification (GO:0006400)2.91853528
123regulation of mitochondrial fission (GO:0090140)2.91344052
124protein complex disassembly (GO:0043241)2.89683164
125regulation of ubiquitin-protein transferase activity (GO:0051438)2.89540079
126DNA replication checkpoint (GO:0000076)2.88593047
127histone-serine phosphorylation (GO:0035404)2.87803069
128spliceosomal snRNP assembly (GO:0000387)2.87066087
129indole-containing compound catabolic process (GO:0042436)2.86245382
130indolalkylamine catabolic process (GO:0046218)2.86245382
131tryptophan catabolic process (GO:0006569)2.86245382
132cellular biogenic amine catabolic process (GO:0042402)2.86188184
133amine catabolic process (GO:0009310)2.86188184
134C-terminal protein amino acid modification (GO:0018410)2.85464388
135peptidyl-histidine modification (GO:0018202)2.85170774
136tRNA processing (GO:0008033)2.83138672
137chaperone-mediated protein transport (GO:0072321)2.82999096
138phosphatidylinositol acyl-chain remodeling (GO:0036149)2.82824725
139sperm motility (GO:0030317)2.82528802
140cellular response to ATP (GO:0071318)2.81993615
141regulation of ligase activity (GO:0051340)2.80681968
142wound healing, spreading of epidermal cells (GO:0035313)2.80334593
143piRNA metabolic process (GO:0034587)2.80081994
144regulation of translation in response to stress (GO:0043555)2.79884418
145cilium morphogenesis (GO:0060271)2.79765355
146positive regulation of cell cycle arrest (GO:0071158)2.78231797
147water-soluble vitamin biosynthetic process (GO:0042364)2.78190078
148macromolecular complex disassembly (GO:0032984)2.77927831
149L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.77765356
150regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.76206965
151neural tube formation (GO:0001841)2.75456138
152detection of chemical stimulus involved in sensory perception (GO:0050907)2.73429189
153motile cilium assembly (GO:0044458)2.72965228
154multicellular organism reproduction (GO:0032504)2.72942259
155regulation of protein heterodimerization activity (GO:0043497)2.72215395
156synaptic transmission, cholinergic (GO:0007271)2.72164918
157mitotic nuclear envelope disassembly (GO:0007077)2.71539688
158photoreceptor cell maintenance (GO:0045494)2.71437448
159regulation of microtubule-based movement (GO:0060632)2.70695001
160electron transport chain (GO:0022900)2.70684078
161iron-sulfur cluster assembly (GO:0016226)2.70379991
162metallo-sulfur cluster assembly (GO:0031163)2.70379991
163establishment of protein localization to mitochondrial membrane (GO:0090151)2.70036257
164GTP biosynthetic process (GO:0006183)2.66123144
165regulation of mitotic spindle organization (GO:0060236)2.65527934
166membrane disassembly (GO:0030397)2.64647269
167nuclear envelope disassembly (GO:0051081)2.64647269
168purine nucleotide salvage (GO:0032261)2.64496857
169photoreceptor cell development (GO:0042461)2.64026927
170nonmotile primary cilium assembly (GO:0035058)2.63827535
171peptidyl-proline hydroxylation (GO:0019511)2.63200704
172membrane budding (GO:0006900)2.63148347
173respiratory electron transport chain (GO:0022904)2.63119624
174mitotic G1 DNA damage checkpoint (GO:0031571)2.61945652
175GMP metabolic process (GO:0046037)2.60630993
176tryptophan metabolic process (GO:0006568)2.60496117
177retinal rod cell development (GO:0046548)2.58805835
178DNA methylation involved in gamete generation (GO:0043046)2.58700414
179cullin deneddylation (GO:0010388)2.58315921
180base-excision repair, AP site formation (GO:0006285)2.57826984
181mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.57274684
182ATP hydrolysis coupled proton transport (GO:0015991)2.56060307
183energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)2.56060307
184cilium organization (GO:0044782)2.55473098
185NAD biosynthetic process (GO:0009435)2.54895002
186GPI anchor metabolic process (GO:0006505)2.53217585
187regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:00033392.53083449
188protein localization to cilium (GO:0061512)2.51191872
189fucose catabolic process (GO:0019317)2.50415231
190L-fucose metabolic process (GO:0042354)2.50415231
191L-fucose catabolic process (GO:0042355)2.50415231
192negative regulation of telomere maintenance (GO:0032205)2.48976019
193tachykinin receptor signaling pathway (GO:0007217)2.47271438

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1MYC_18555785_ChIP-Seq_MESCs_Mouse4.02456169
2EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.72275107
3ZNF274_21170338_ChIP-Seq_K562_Hela3.46505566
4E2F7_22180533_ChIP-Seq_HELA_Human3.45268809
5TP63_17297297_ChIP-ChIP_HaCaT_Human3.25232016
6VDR_22108803_ChIP-Seq_LS180_Human3.21333118
7ETS1_20019798_ChIP-Seq_JURKAT_Human3.10131408
8GABP_17652178_ChIP-ChIP_JURKAT_Human3.06435923
9MYC_19079543_ChIP-ChIP_MESCs_Mouse2.95262206
10JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.94456569
11CREB1_15753290_ChIP-ChIP_HEK293T_Human2.90760581
12IGF1R_20145208_ChIP-Seq_DFB_Human2.79991190
13KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.75023466
14MYC_18358816_ChIP-ChIP_MESCs_Mouse2.68779313
15EST1_17652178_ChIP-ChIP_JURKAT_Human2.59448799
16MYC_19030024_ChIP-ChIP_MESCs_Mouse2.48082701
17RARG_19884340_ChIP-ChIP_MEFs_Mouse2.31486076
18XRN2_22483619_ChIP-Seq_HELA_Human2.17931741
19TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.14698707
20NELFA_20434984_ChIP-Seq_ESCs_Mouse2.14108077
21DCP1A_22483619_ChIP-Seq_HELA_Human2.07330313
22EZH2_22144423_ChIP-Seq_EOC_Human2.06084641
23CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human2.05520849
24VDR_23849224_ChIP-Seq_CD4+_Human2.03991242
25CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.03904762
26FOXM1_23109430_ChIP-Seq_U2OS_Human2.02196063
27ZNF263_19887448_ChIP-Seq_K562_Human1.97594764
28EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.97007168
29NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.96503065
30EGR1_19374776_ChIP-ChIP_THP-1_Human1.94568971
31CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.94556876
32GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.90953042
33E2F1_18555785_ChIP-Seq_MESCs_Mouse1.90096352
34ELK1_22589737_ChIP-Seq_MCF10A_Human1.88760094
35TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.87645053
36FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.84075182
37TP53_22573176_ChIP-Seq_HFKS_Human1.83288315
38GABP_19822575_ChIP-Seq_HepG2_Human1.80724387
39YY1_22570637_ChIP-Seq_MALME-3M_Human1.80648379
40ERA_21632823_ChIP-Seq_H3396_Human1.79769782
41STAT3_1855785_ChIP-Seq_MESCs_Mouse1.77817519
42PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.71325976
43CTBP1_25329375_ChIP-Seq_LNCAP_Human1.69847889
44EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.69796111
45GBX2_23144817_ChIP-Seq_PC3_Human1.69028364
46FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.68891353
47ELK1_19687146_ChIP-ChIP_HELA_Human1.68326707
48KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.64734162
49HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.63937633
50MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.63768216
51AR_21909140_ChIP-Seq_LNCAP_Human1.63592793
52TTF2_22483619_ChIP-Seq_HELA_Human1.63590696
53NANOG_18555785_ChIP-Seq_MESCs_Mouse1.63222110
54ATF3_27146783_Chip-Seq_COLON_Human1.60653925
55ZFP57_27257070_Chip-Seq_ESCs_Mouse1.60201942
56RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.59878481
57POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.56530107
58BCL6_27268052_Chip-Seq_Bcells_Human1.55093440
59NANOG_20526341_ChIP-Seq_ESCs_Human1.55055762
60E2F1_20622854_ChIP-Seq_HELA_Human1.54257879
61KLF4_18555785_ChIP-Seq_MESCs_Mouse1.53244359
62HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.52335373
63SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.51595562
64MYCN_18555785_ChIP-Seq_MESCs_Mouse1.50425355
65TFEB_21752829_ChIP-Seq_HELA_Human1.48322208
66SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.47008111
67SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.46048344
68TAF2_19829295_ChIP-Seq_ESCs_Human1.46016576
69CTBP2_25329375_ChIP-Seq_LNCAP_Human1.45655179
70P53_21459846_ChIP-Seq_SAOS-2_Human1.45627456
71HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.44604917
72GATA3_21878914_ChIP-Seq_MCF-7_Human1.44170258
73GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.42819277
74EGR1_23403033_ChIP-Seq_LIVER_Mouse1.42696436
75* MYC_19829295_ChIP-Seq_ESCs_Human1.42263064
76FOXP3_21729870_ChIP-Seq_TREG_Human1.42258841
77MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.42222252
78ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.41650112
79TRIM28_21343339_ChIP-Seq_HEK293_Human1.41435128
80E2F4_17652178_ChIP-ChIP_JURKAT_Human1.40847748
81PHF8_20622854_ChIP-Seq_HELA_Human1.40406367
82PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.40358450
83* CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.36416211
84CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.33845209
85DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.33449672
86ZFX_18555785_ChIP-Seq_MESCs_Mouse1.32693626
87ELK3_25401928_ChIP-Seq_HUVEC_Human1.32356979
88REST_21632747_ChIP-Seq_MESCs_Mouse1.32286997
89POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.32055540
90PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.31644537
91AR_21572438_ChIP-Seq_LNCaP_Human1.29910687
92E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.28959853
93ETV2_25802403_ChIP-Seq_MESCs_Mouse1.27391291
94MYC_18940864_ChIP-ChIP_HL60_Human1.26366164
95RAC3_21632823_ChIP-Seq_H3396_Human1.26157704
96ER_23166858_ChIP-Seq_MCF-7_Human1.25145948
97FOXA1_27270436_Chip-Seq_PROSTATE_Human1.24372037
98FOXA1_25329375_ChIP-Seq_VCAP_Human1.24372037
99BCAT_22108803_ChIP-Seq_LS180_Human1.24273045
100EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.23921215
101NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.23710261
102NCOR_22424771_ChIP-Seq_293T_Human1.23663586
103OCT4_20526341_ChIP-Seq_ESCs_Human1.23388813
104TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.22609386
105CTCF_20526341_ChIP-Seq_ESCs_Human1.22285652
106EZH2_27294783_Chip-Seq_ESCs_Mouse1.21924445
107ELF1_20517297_ChIP-Seq_JURKAT_Human1.21887277
108MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.21848210
109AR_20517297_ChIP-Seq_VCAP_Human1.21504544
110LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.20210004
111SRF_21415370_ChIP-Seq_HL-1_Mouse1.20135935
112IKZF1_21737484_ChIP-ChIP_HCT116_Human1.19533764
113REST_18959480_ChIP-ChIP_MESCs_Mouse1.18819441
114P68_20966046_ChIP-Seq_HELA_Human1.18546490
115PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.18174831
116BMI1_23680149_ChIP-Seq_NPCS_Mouse1.17804209
117THAP11_20581084_ChIP-Seq_MESCs_Mouse1.17389869
118NANOG_19829295_ChIP-Seq_ESCs_Human1.17240676
119SOX2_19829295_ChIP-Seq_ESCs_Human1.17240676
120MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.17072675
121CBX2_27304074_Chip-Seq_ESCs_Mouse1.16712154
122* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.16559552
123FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.15857275
124TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.15363841
125CBP_20019798_ChIP-Seq_JUKART_Human1.14489178
126IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.14489178
127NOTCH1_21737748_ChIP-Seq_TLL_Human1.13794921
128SRY_22984422_ChIP-ChIP_TESTIS_Rat1.13372107
129HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.13368601
130SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.12482743
131STAT1_20625510_ChIP-Seq_HELA_Human1.11995975
132* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.10087821
133* SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.09684204
134HOXB7_26014856_ChIP-Seq_BT474_Human1.09296474
135IRF1_19129219_ChIP-ChIP_H3396_Human1.08757027
136BCOR_27268052_Chip-Seq_Bcells_Human1.08324258
137SUZ12_27294783_Chip-Seq_ESCs_Mouse1.08094585
138* YY1_21170310_ChIP-Seq_MESCs_Mouse1.07889239
139HIF1A_21447827_ChIP-Seq_MCF-7_Human1.07603493
140CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.07111026
141SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.07023426
142EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.06266096
143FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.06012276
144CLOCK_20551151_ChIP-Seq_293T_Human1.05450764
145ELF1_17652178_ChIP-ChIP_JURKAT_Human1.05278093
146TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.05227006
147TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.04712718
148ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.04372998
149KDM5A_27292631_Chip-Seq_BREAST_Human1.04005528
150MYB_21317192_ChIP-Seq_ERMYB_Mouse1.03995572
151P300_27268052_Chip-Seq_Bcells_Human1.03635567
152NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.02367887
153NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.02259005
154* CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.01765116
155FOXH1_21741376_ChIP-Seq_EPCs_Human1.01602873
156RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human1.01489220
157RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.01130807
158SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.00469926
159SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.00469926
160FLI1_27457419_Chip-Seq_LIVER_Mouse1.00427591
161E2F1_21310950_ChIP-Seq_MCF-7_Human1.00410928
162EWS_26573619_Chip-Seq_HEK293_Human1.00234085
163HOXB4_20404135_ChIP-ChIP_EML_Mouse0.99949358
164NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.99508873
165CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.99121349
166CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.98745271
167TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.98044872
168FUS_26573619_Chip-Seq_HEK293_Human0.96954019
169MYC_22102868_ChIP-Seq_BL_Human0.96567273
170* SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.96294673
171FOXP1_21924763_ChIP-Seq_HESCs_Human0.96155932
172FOXH1_21741376_ChIP-Seq_ESCs_Human0.94378400
173ERG_20517297_ChIP-Seq_VCAP_Human0.94316653
174SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.93632980
175TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.93328892
176CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.93040012
177SPI1_23547873_ChIP-Seq_NB4_Human0.92790010
178RACK7_27058665_Chip-Seq_MCF-7_Human0.91092184
179OCT4_18692474_ChIP-Seq_MEFs_Mouse0.91044540
180KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.90429222
181BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.90348964
182PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.90093548
183TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.89214933

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching4.54816248
2MP0008438_abnormal_cutaneous_collagen4.14053580
3MP0003136_yellow_coat_color3.46091672
4MP0005275_abnormal_skin_tensile3.43712631
5MP0003705_abnormal_hypodermis_morpholog3.43174321
6MP0005084_abnormal_gallbladder_morpholo3.35530734
7MP0008875_abnormal_xenobiotic_pharmacok3.16540121
8MP0010352_gastrointestinal_tract_polyps2.75711154
9MP0001968_abnormal_touch/_nociception2.74504193
10MP0004957_abnormal_blastocyst_morpholog2.74502926
11MP0005551_abnormal_eye_electrophysiolog2.57601821
12MP0001542_abnormal_bone_strength2.56201652
13MP0003195_calcinosis2.41091011
14MP0000372_irregular_coat_pigmentation2.37570238
15MP0002638_abnormal_pupillary_reflex2.30971623
16MP0002736_abnormal_nociception_after2.26065479
17MP0003111_abnormal_nucleus_morphology2.25993850
18MP0003279_aneurysm2.25108873
19MP0001986_abnormal_taste_sensitivity2.22848654
20MP0002653_abnormal_ependyma_morphology2.18107483
21MP0005253_abnormal_eye_physiology2.08316625
22MP0003566_abnormal_cell_adhesion2.05946798
23MP0001905_abnormal_dopamine_level2.05346712
24MP0006072_abnormal_retinal_apoptosis2.04679967
25MP0002837_dystrophic_cardiac_calcinosis2.03397824
26MP0005503_abnormal_tendon_morphology2.02111152
27MP0005257_abnormal_intraocular_pressure1.99660249
28MP0003077_abnormal_cell_cycle1.98737382
29MP0000750_abnormal_muscle_regeneration1.96104749
30MP0005023_abnormal_wound_healing1.95919600
31MP0005451_abnormal_body_composition1.94935028
32MP0005171_absent_coat_pigmentation1.90081345
33MP0002796_impaired_skin_barrier1.89673296
34MP0003011_delayed_dark_adaptation1.89347234
35MP0005423_abnormal_somatic_nervous1.85055484
36MP0009333_abnormal_splenocyte_physiolog1.83925997
37MP0003941_abnormal_skin_development1.83746451
38MP0008932_abnormal_embryonic_tissue1.83197153
39MP0003718_maternal_effect1.82818348
40MP0001529_abnormal_vocalization1.82405612
41MP0005410_abnormal_fertilization1.81825236
42MP0010307_abnormal_tumor_latency1.79968226
43MP0005645_abnormal_hypothalamus_physiol1.78480440
44MP0002060_abnormal_skin_morphology1.75967425
45MP0010030_abnormal_orbit_morphology1.73725918
46MP0002877_abnormal_melanocyte_morpholog1.72073165
47MP0000858_altered_metastatic_potential1.71808379
48MP0006292_abnormal_olfactory_placode1.71529017
49MP0009046_muscle_twitch1.70498202
50MP0003646_muscle_fatigue1.69798281
51MP0008872_abnormal_physiological_respon1.68379233
52MP0002102_abnormal_ear_morphology1.67481532
53MP0002876_abnormal_thyroid_physiology1.66550104
54MP0001958_emphysema1.64470547
55MP0005623_abnormal_meninges_morphology1.64160623
56MP0002928_abnormal_bile_duct1.63173435
57MP0002396_abnormal_hematopoietic_system1.62245715
58MP0008007_abnormal_cellular_replicative1.61441662
59MP0004133_heterotaxia1.61284580
60MP0005174_abnormal_tail_pigmentation1.58951124
61MP0005083_abnormal_biliary_tract1.58444592
62MP0005379_endocrine/exocrine_gland_phen1.57435558
63MP0005501_abnormal_skin_physiology1.56001635
64MP0006276_abnormal_autonomic_nervous1.55229885
65MP0006054_spinal_hemorrhage1.53181897
66MP0005377_hearing/vestibular/ear_phenot1.51744811
67MP0003878_abnormal_ear_physiology1.51744811
68MP0010386_abnormal_urinary_bladder1.47196468
69MP0000350_abnormal_cell_proliferation1.47195986
70MP0001730_embryonic_growth_arrest1.46842281
71MP0009745_abnormal_behavioral_response1.45927355
72MP0004142_abnormal_muscle_tone1.45588826
73MP0010094_abnormal_chromosome_stability1.44537013
74MP0001243_abnormal_dermal_layer1.44046650
75MP0008260_abnormal_autophagy1.41361107
76MP0003786_premature_aging1.40220075
77MP0004043_abnormal_pH_regulation1.40072815
78MP0000358_abnormal_cell_content/1.39753765
79MP0009840_abnormal_foam_cell1.38344701
80MP0005508_abnormal_skeleton_morphology1.38194555
81MP0010234_abnormal_vibrissa_follicle1.35138998
82MP0003880_abnormal_central_pattern1.33095895
83MP0005646_abnormal_pituitary_gland1.32676273
84MP0000490_abnormal_crypts_of1.28008773
85MP0002572_abnormal_emotion/affect_behav1.26226656
86MP0003091_abnormal_cell_migration1.25574831
87MP0002272_abnormal_nervous_system1.25347348
88MP0006036_abnormal_mitochondrial_physio1.25201473
89MP0005389_reproductive_system_phenotype1.24366678
90MP0008877_abnormal_DNA_methylation1.22306825
91MP0001485_abnormal_pinna_reflex1.22154962
92MP0001970_abnormal_pain_threshold1.19998506
93MP0003950_abnormal_plasma_membrane1.18820148
94MP0003806_abnormal_nucleotide_metabolis1.17062879
95MP0002735_abnormal_chemical_nociception1.16495378
96MP0004947_skin_inflammation1.15910443
97MP0001501_abnormal_sleep_pattern1.15909674
98MP0000733_abnormal_muscle_development1.13245228
99MP0002909_abnormal_adrenal_gland1.11824616
100MP0008961_abnormal_basal_metabolism1.10934781
101MP0002557_abnormal_social/conspecific_i1.10108575
102MP0003186_abnormal_redox_activity1.09916110
103MP0001545_abnormal_hematopoietic_system1.07906273
104MP0005397_hematopoietic_system_phenotyp1.07906273
105MP0001764_abnormal_homeostasis1.07257586
106MP0003448_altered_tumor_morphology1.06910517
107MP0000026_abnormal_inner_ear1.06564906
108MP0005076_abnormal_cell_differentiation1.04779657
109MP0002733_abnormal_thermal_nociception1.04416830
110MP0005332_abnormal_amino_acid1.03437501
111MP0004808_abnormal_hematopoietic_stem1.03431924
112MP0000538_abnormal_urinary_bladder1.03209110
113MP0005390_skeleton_phenotype1.02987873
114MP0004147_increased_porphyrin_level1.02063084
115MP0004742_abnormal_vestibular_system1.01949733
116MP0009379_abnormal_foot_pigmentation1.01857932
117MP0009384_cardiac_valve_regurgitation1.01773638
118MP0002751_abnormal_autonomic_nervous1.01586492
119MP0001216_abnormal_epidermal_layer1.00520748
120MP0008789_abnormal_olfactory_epithelium1.00460045
121MP0002080_prenatal_lethality0.99837207
122MP0004885_abnormal_endolymph0.99671437
123MP0005195_abnormal_posterior_eye0.98241965
124MP0002163_abnormal_gland_morphology0.97604286
125MP0005621_abnormal_cell_physiology0.96832773
126MP0005058_abnormal_lysosome_morphology0.96643426
127MP0005395_other_phenotype0.96586907
128MP0001919_abnormal_reproductive_system0.96376443
129MP0010771_integument_phenotype0.94325108
130MP0005380_embryogenesis_phenotype0.94087569
131MP0001672_abnormal_embryogenesis/_devel0.94087569
132MP0003698_abnormal_male_reproductive0.93985147
133MP0002938_white_spotting0.93227259
134MP0001697_abnormal_embryo_size0.92797752
135MP0001299_abnormal_eye_distance/0.92323054
136MP0005636_abnormal_mineral_homeostasis0.91992562
137MP0001533_abnormal_skeleton_physiology0.91515455
138MP0000427_abnormal_hair_cycle0.91316270
139MP0003787_abnormal_imprinting0.90871710
140MP0001984_abnormal_olfaction0.89552975
141MP0002064_seizures0.89151922
142MP0000631_abnormal_neuroendocrine_gland0.88954090
143MP0002229_neurodegeneration0.88633720
144MP0002019_abnormal_tumor_incidence0.88429415
145MP0002067_abnormal_sensory_capabilities0.87633207
146MP0008058_abnormal_DNA_repair0.87631814
147MP0002138_abnormal_hepatobiliary_system0.87397758
148MP0003436_decreased_susceptibility_to0.86498891
149MP0005365_abnormal_bile_salt0.86073789
150MP0001486_abnormal_startle_reflex0.85249975
151MP0001502_abnormal_circadian_rhythm0.85199047
152MP0006035_abnormal_mitochondrial_morpho0.84972745
153MP0003984_embryonic_growth_retardation0.82784666
154MP0003635_abnormal_synaptic_transmissio0.82577710
155MP0004858_abnormal_nervous_system0.82432427
156MP0002234_abnormal_pharynx_morphology0.81295385
157MP0005384_cellular_phenotype0.81276935
158MP0000647_abnormal_sebaceous_gland0.81143093
159MP0002210_abnormal_sex_determination0.80939441
160MP0001756_abnormal_urination0.80508666
161MP0002088_abnormal_embryonic_growth/wei0.80415014
162MP0009931_abnormal_skin_appearance0.79940601
163MP0004019_abnormal_vitamin_homeostasis0.79260869
164MP0002160_abnormal_reproductive_system0.79109812
165MP0001963_abnormal_hearing_physiology0.79026442
166MP0002752_abnormal_somatic_nervous0.78583659
167MP0000428_abnormal_craniofacial_morphol0.78150803
168MP0001324_abnormal_eye_pigmentation0.77957102
169MP0002693_abnormal_pancreas_physiology0.77796082
170MP0000627_abnormal_mammary_gland0.77624095
171MP0002295_abnormal_pulmonary_circulatio0.77504970
172MP0005386_behavior/neurological_phenoty0.77466530
173MP0004924_abnormal_behavior0.77466530
174MP0000230_abnormal_systemic_arterial0.77098495
175MP0003879_abnormal_hair_cell0.76102645
176MP0001929_abnormal_gametogenesis0.75900270
177MP0001727_abnormal_embryo_implantation0.73660711
178MP0002086_abnormal_extraembryonic_tissu0.72618768
179MP0004185_abnormal_adipocyte_glucose0.71092357
180MP0004272_abnormal_basement_membrane0.70843595
181MP0000313_abnormal_cell_death0.69791540
182MP0003453_abnormal_keratinocyte_physiol0.69765569
183MP0009250_abnormal_appendicular_skeleto0.69746498
184MP0003567_abnormal_fetal_cardiomyocyte0.68780268
185MP0002132_abnormal_respiratory_system0.67116935
186MP0000377_abnormal_hair_follicle0.66264466
187MP0003795_abnormal_bone_structure0.66031064
188MP0002085_abnormal_embryonic_tissue0.65214994
189MP0004197_abnormal_fetal_growth/weight/0.63935102
190MP0003221_abnormal_cardiomyocyte_apopto0.63201730
191MP0000747_muscle_weakness0.62821980
192MP0002405_respiratory_system_inflammati0.62615354
193MP0009053_abnormal_anal_canal0.62204544
194MP0002089_abnormal_postnatal_growth/wei0.60215204
195MP0000013_abnormal_adipose_tissue0.58145221

Predicted human phenotypes

RankGene SetZ-score
1Premature rupture of membranes (HP:0001788)6.80938415
2Protrusio acetabuli (HP:0003179)5.82218882
3Congenital stationary night blindness (HP:0007642)4.13588012
4Abnormality of midbrain morphology (HP:0002418)3.94659024
5Molar tooth sign on MRI (HP:0002419)3.94659024
6Pancreatic fibrosis (HP:0100732)3.79002024
7Cervical subluxation (HP:0003308)3.78037965
8Absent/shortened dynein arms (HP:0200106)3.77644559
9Dynein arm defect of respiratory motile cilia (HP:0012255)3.77644559
10Vertebral compression fractures (HP:0002953)3.71265226
11Pancreatic cysts (HP:0001737)3.71208789
12Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.68591837
13Mitochondrial inheritance (HP:0001427)3.67981073
14Ankle contracture (HP:0006466)3.64307095
15Acute necrotizing encephalopathy (HP:0006965)3.60045889
16Carpal bone hypoplasia (HP:0001498)3.50409613
17True hermaphroditism (HP:0010459)3.47110072
18Abnormal rod and cone electroretinograms (HP:0008323)3.43741054
19Breast hypoplasia (HP:0003187)3.41270797
20Attenuation of retinal blood vessels (HP:0007843)3.41235702
21Peritonitis (HP:0002586)3.35123596
22Short nail (HP:0001799)3.32758773
23Osteolytic defects of the hand bones (HP:0009699)3.32708646
24Osteolytic defects of the phalanges of the hand (HP:0009771)3.32708646
25Abnormal mitochondria in muscle tissue (HP:0008316)3.30802745
26Increased CSF lactate (HP:0002490)3.30634228
27Rough bone trabeculation (HP:0100670)3.30135504
28Absent rod-and cone-mediated responses on ERG (HP:0007688)3.29702383
29Nephronophthisis (HP:0000090)3.29111510
30Hepatocellular necrosis (HP:0001404)3.27406500
31Soft skin (HP:0000977)3.21598364
32Decreased electroretinogram (ERG) amplitude (HP:0000654)3.21214885
33Abnormality of the umbilical cord (HP:0010881)3.20055497
34Acute encephalopathy (HP:0006846)3.15934932
35Lipid accumulation in hepatocytes (HP:0006561)3.15716359
36Polydipsia (HP:0001959)3.13863178
37Abnormal drinking behavior (HP:0030082)3.13863178
38Polyuria (HP:0000103)3.13361542
39Trismus (HP:0000211)3.07438028
40Abnormal respiratory motile cilium physiology (HP:0012261)3.07267495
41Abnormal respiratory epithelium morphology (HP:0012253)3.06663116
42Abnormal respiratory motile cilium morphology (HP:0005938)3.06663116
43Multiple enchondromatosis (HP:0005701)2.96968263
44Abnormality of cells of the erythroid lineage (HP:0012130)2.95611958
45Hepatic necrosis (HP:0002605)2.94922296
46Genu recurvatum (HP:0002816)2.92945212
47Progressive macrocephaly (HP:0004481)2.91052358
48Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.90441533
49Increased hepatocellular lipid droplets (HP:0006565)2.89689099
50Dilatation of the ascending aorta (HP:0005111)2.85811953
51Renal Fanconi syndrome (HP:0001994)2.84026602
52Abnormal ciliary motility (HP:0012262)2.83550657
53Bony spicule pigmentary retinopathy (HP:0007737)2.80193306
54Chronic hepatic failure (HP:0100626)2.78522290
55Decreased central vision (HP:0007663)2.74205502
56Biconcave vertebral bodies (HP:0004586)2.72927185
57Abnormality of the renal medulla (HP:0100957)2.72456109
58Type II lissencephaly (HP:0007260)2.70982234
59Difficulty climbing stairs (HP:0003551)2.70915221
60Thoracolumbar scoliosis (HP:0002944)2.70517942
61Atrophic scars (HP:0001075)2.69498045
62Achilles tendon contracture (HP:0001771)2.68681096
63Abnormality of the distal phalanges of the toes (HP:0010182)2.67488346
64Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.64638228
65Abnormality of renal resorption (HP:0011038)2.61176876
66Optic disc pallor (HP:0000543)2.59951698
67Shallow orbits (HP:0000586)2.54970880
68Fragile skin (HP:0001030)2.54834095
69Increased connective tissue (HP:0009025)2.52743538
70Abnormal urine output (HP:0012590)2.51409792
71Pustule (HP:0200039)2.51064365
723-Methylglutaconic aciduria (HP:0003535)2.50699103
73Mesangial abnormality (HP:0001966)2.49616204
74Birth length less than 3rd percentile (HP:0003561)2.49440738
75Entropion (HP:0000621)2.48381419
76Beaking of vertebral bodies (HP:0004568)2.48332002
77Microretrognathia (HP:0000308)2.48326000
78Abnormal trabecular bone morphology (HP:0100671)2.46286306
79Sparse lateral eyebrow (HP:0005338)2.45686205
80Congenital ichthyosiform erythroderma (HP:0007431)2.44774233
81Cerebral hypomyelination (HP:0006808)2.44757872
82Cystic liver disease (HP:0006706)2.41638602
83Medial flaring of the eyebrow (HP:0010747)2.41620434
84Increased serum lactate (HP:0002151)2.40452056
85Wormian bones (HP:0002645)2.38777682
86Abnormal delivery (HP:0001787)2.37443917
87Abnormal number of erythroid precursors (HP:0012131)2.36794872
88Sparse eyelashes (HP:0000653)2.35654083
89Type 2 muscle fiber atrophy (HP:0003554)2.32903995
90Lactic acidosis (HP:0003128)2.32633764
91Tubular atrophy (HP:0000092)2.32144916
92Cerebellar dysplasia (HP:0007033)2.29230128
93Distal arthrogryposis (HP:0005684)2.27474782
94Abnormality of the Achilles tendon (HP:0005109)2.26206890
95Abnormal biliary tract physiology (HP:0012439)2.25795717
96Bile duct proliferation (HP:0001408)2.25795717
97Rhinitis (HP:0012384)2.25342304
98Increased intramyocellular lipid droplets (HP:0012240)2.24868266
99Amelogenesis imperfecta (HP:0000705)2.24596165
100Aortic aneurysm (HP:0004942)2.23763223
101Abnormality of the acetabulum (HP:0003170)2.23293190
102Glossoptosis (HP:0000162)2.22433144
103Sclerocornea (HP:0000647)2.21582254
104Retinal dysplasia (HP:0007973)2.20503741
105Rib fusion (HP:0000902)2.20103480
106Abnormality of dental color (HP:0011073)2.20075387
107Wrist flexion contracture (HP:0001239)2.19819502
108Abnormality of renal excretion (HP:0011036)2.18759131
109Spinal rigidity (HP:0003306)2.18631719
110Degeneration of anterior horn cells (HP:0002398)2.18267596
111Abnormality of the anterior horn cell (HP:0006802)2.18267596
112Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.17992975
113Cerebral edema (HP:0002181)2.17743637
114Increased muscle lipid content (HP:0009058)2.15802138
115Ureteral duplication (HP:0000073)2.15760726
116Abnormality of dentin (HP:0010299)2.15656440
117Macrocytic anemia (HP:0001972)2.15067103
118Aortic dissection (HP:0002647)2.14567402
119Spinal cord compression (HP:0002176)2.13590480
120Elbow flexion contracture (HP:0002987)2.11101010
121Natal tooth (HP:0000695)2.10557683
122Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.08369176
123Secondary amenorrhea (HP:0000869)2.06492291
124Blue sclerae (HP:0000592)2.06031707
125Muscle fiber atrophy (HP:0100295)2.05780476
126Severe muscular hypotonia (HP:0006829)2.05522453
127Reduced subcutaneous adipose tissue (HP:0003758)2.05384717
128Occipital encephalocele (HP:0002085)2.05087373
129Ileus (HP:0002595)2.04913263
130Chronic bronchitis (HP:0004469)2.04093734
131Abnormality of the renal cortex (HP:0011035)2.03825019
132Gait imbalance (HP:0002141)2.03784188
133Pendular nystagmus (HP:0012043)2.03687955
134Congenital hepatic fibrosis (HP:0002612)2.03379176
135Abnormalities of placenta or umbilical cord (HP:0001194)2.03305616
136Pallor (HP:0000980)2.01882545
137Breech presentation (HP:0001623)2.00996333
138Selective tooth agenesis (HP:0001592)2.00846997
139Ketosis (HP:0001946)2.00778676
140Abolished electroretinogram (ERG) (HP:0000550)2.00324120
141Areflexia of lower limbs (HP:0002522)1.99311872
142Abnormal cartilage morphology (HP:0002763)1.99208498
143Abnormality of macular pigmentation (HP:0008002)1.98023085
144Abnormal protein glycosylation (HP:0012346)1.97933797
145Abnormal glycosylation (HP:0012345)1.97933797
146Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.97933797
147Abnormal protein N-linked glycosylation (HP:0012347)1.97933797
148Exertional dyspnea (HP:0002875)1.97507051
149Abnormality of the calcaneus (HP:0008364)1.96869912
150Large for gestational age (HP:0001520)1.96599404
151Abnormality of subcutaneous fat tissue (HP:0001001)1.96340431
152Slender long bone (HP:0003100)1.96204457
153Coxa vara (HP:0002812)1.95471726
154Chorioretinal atrophy (HP:0000533)1.94718557
155Progressive microcephaly (HP:0000253)1.94547603
156Anencephaly (HP:0002323)1.93980332
157Congenital primary aphakia (HP:0007707)1.93814449
158Cerebral aneurysm (HP:0004944)1.92986073
159Reticulocytopenia (HP:0001896)1.92965637
160Male pseudohermaphroditism (HP:0000037)1.92816731
161Aplasia/Hypoplasia of the tongue (HP:0010295)1.92465380
162Retinitis pigmentosa (HP:0000510)1.91879962
163Lack of skin elasticity (HP:0100679)1.91786751
164Patellar aplasia (HP:0006443)1.91643166
165Decreased circulating renin level (HP:0003351)1.91365217
166Nonimmune hydrops fetalis (HP:0001790)1.91286788
167Methylmalonic aciduria (HP:0012120)1.91102434
168Ketoacidosis (HP:0001993)1.90570347
169Opisthotonus (HP:0002179)1.90456038
170Aplasia/Hypoplasia of the patella (HP:0006498)1.89983974
171Joint stiffness (HP:0001387)1.88917216
172Abnormality of alanine metabolism (HP:0010916)1.88235539
173Hyperalaninemia (HP:0003348)1.88235539
174Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.88235539
175Decreased subcutaneous fat (HP:0001002)1.88205138
176Patent foramen ovale (HP:0001655)1.87974388
177Premature ovarian failure (HP:0008209)1.87477653
178Broad face (HP:0000283)1.86967827
179Hyperventilation (HP:0002883)1.85206321
180Testicular atrophy (HP:0000029)1.85052652
181Muscle fiber splitting (HP:0003555)1.82901078
182Type I transferrin isoform profile (HP:0003642)1.82613405
183Neonatal short-limb short stature (HP:0008921)1.82496597
184Glycosuria (HP:0003076)1.82329402
185Progressive muscle weakness (HP:0003323)1.82105312
186Increased IgE level (HP:0003212)1.81834210
187Calcaneovalgus deformity (HP:0001848)1.81653192
188Fused cervical vertebrae (HP:0002949)1.78651045
189Gastrointestinal dysmotility (HP:0002579)1.78343345
190Stillbirth (HP:0003826)1.77267660
191Submucous cleft hard palate (HP:0000176)1.76754162
192Delayed cranial suture closure (HP:0000270)1.75857503
193Abnormal hemoglobin (HP:0011902)1.71272442
194Deformed tarsal bones (HP:0008119)1.68941137
195Concave nail (HP:0001598)1.68893679
196Alopecia of scalp (HP:0002293)1.68358959
197Pterygium (HP:0001059)1.67930413
198Single umbilical artery (HP:0001195)1.67791080

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NME25.39698046
2FRK3.84324469
3PIM23.81386035
4BUB13.66777540
5ADRBK22.99734816
6WEE12.98904096
7MAP4K22.98426661
8PINK12.97436965
9WNK42.80961431
10TESK22.75941423
11EPHA22.75289942
12LATS22.72251284
13MAPK152.62085380
14EIF2AK12.59922181
15TESK12.55594024
16ARAF2.50350597
17NTRK22.50038425
18VRK22.41468540
19BCKDK2.27325112
20WNK32.11939018
21LIMK12.11262858
22MUSK2.06017562
23INSRR1.95730580
24RPS6KA41.88067321
25MAP2K71.79152212
26EIF2AK31.76186535
27MAPKAPK31.75330368
28TAOK31.74624638
29NEK21.72841445
30GRK11.69129816
31BRSK21.60493993
32DDR21.58339866
33IRAK31.54524022
34TRIB31.53903460
35ERN11.50443755
36MAPK131.49359624
37LRRK21.49276525
38STK391.46536100
39NUAK11.46075030
40TRIM281.45953132
41BMPR1B1.45302727
42ADRBK11.42801207
43MAP3K41.42735038
44PBK1.38439424
45TXK1.38030723
46DYRK31.35883956
47PAK41.34923226
48TTN1.31050038
49CASK1.30643244
50DYRK21.29197728
51MAP3K31.28081038
52BRAF1.23886540
53ACVR1B1.22582008
54SRPK11.21182375
55TSSK61.21060954
56RPS6KB21.18424506
57MAP3K111.18391580
58ABL21.17785748
59GRK51.15109799
60PLK41.14443044
61MAP3K81.14049998
62PAK11.12575483
63MOS1.12070416
64LATS11.10807271
65NEK11.10774503
66PAK21.09421011
67ILK1.07901810
68PLK11.06844974
69STK101.06573757
70SIK21.04976216
71TTK1.04005389
72CSNK1G31.02088405
73STK38L1.01186969
74NME11.00103481
75PLK20.99732182
76NEK90.98494095
77AURKB0.98159276
78PRKCG0.97886281
79PHKG10.95838804
80PHKG20.95838804
81AURKA0.95211856
82STK30.94897380
83ZAK0.93127004
84EEF2K0.91180260
85CSNK1A1L0.90052003
86SCYL20.89602027
87BCR0.88472244
88PAK30.87960432
89PLK30.85230876
90CSNK1G20.85081769
91CAMKK20.84796196
92MAP2K60.83809257
93MARK30.81846606
94PRKCE0.81778845
95RAF10.81001454
96MARK10.80726524
97GRK70.80026710
98MST40.78459690
99PRKCQ0.77863320
100OXSR10.77329822
101TAOK10.77288717
102BRSK10.74307863
103CDK70.71986912
104TRPM70.70666419
105DAPK20.70662417
106PRKCI0.70570846
107TIE10.70550209
108KDR0.69732146
109MAP3K100.69616600
110EPHB20.68798795
111EPHA30.66181071
112MAP2K30.66111528
113PDGFRA0.65585327
114PTK2B0.64823980
115MAP2K20.60937470
116PIM10.60895476
117CSNK1G10.60368456
118AKT30.60107320
119DAPK30.59808315
120CHEK20.57440290
121PTK20.57141642
122PKN10.57139779
123MAP2K10.56739311
124CDC70.55215861
125MAP4K10.54404517
126TNK20.54188006
127MAP3K20.54139133
128PKN20.54016135
129TNIK0.53157386
130PDK20.50833238
131KSR20.48468512
132IKBKB0.47357572
133MST1R0.45959477
134PRKACA0.45861456
135CSNK1A10.45418716
136CAMK2A0.42906576
137PRKCH0.42354814
138TAOK20.42123783
139MET0.41127863
140PRKCA0.40944413
141ZAP700.40312276
142RPS6KA50.40283256
143VRK10.39512232
144TLK10.39159842
145CDK80.38930346
146DAPK10.36261590
147CAMK2D0.35814221
148ERBB30.34680513
149PRKG20.33759635
150GRK60.32833021
151CSNK2A20.32243482
152MKNK10.32089452
153MTOR0.31980307
154CCNB10.31041905
155ALK0.29974600
156TBK10.29344801
157PRKCZ0.29321589
158MAPKAPK50.29061553
159MATK0.28939289
160PRKCD0.28559149
161MAPKAPK20.28295021
162CSNK2A10.28293987
163RPS6KA60.27723949
164BMX0.27600953
165STK160.27187019
166CAMK2G0.26011758
167MYLK0.25985935
168BLK0.25219406

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.46440826
2Ribosome_Homo sapiens_hsa030104.14161589
3RNA polymerase_Homo sapiens_hsa030203.94558149
4Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.70162934
5Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001303.52191918
6Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005633.04622751
7Vitamin B6 metabolism_Homo sapiens_hsa007502.85447995
8RNA transport_Homo sapiens_hsa030132.65931593
9DNA replication_Homo sapiens_hsa030302.45097805
10alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.39593903
11Pyrimidine metabolism_Homo sapiens_hsa002402.35115680
12Linoleic acid metabolism_Homo sapiens_hsa005912.32930327
13p53 signaling pathway_Homo sapiens_hsa041152.23939546
14Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006042.15873238
15Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.12410159
16Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005202.08513056
17Phototransduction_Homo sapiens_hsa047442.06452990
18Spliceosome_Homo sapiens_hsa030401.98940263
19Cell cycle_Homo sapiens_hsa041101.91728485
20Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.82765786
21Nucleotide excision repair_Homo sapiens_hsa034201.80056498
22Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.68093254
23Alzheimers disease_Homo sapiens_hsa050101.67876044
24Butanoate metabolism_Homo sapiens_hsa006501.66889171
25Base excision repair_Homo sapiens_hsa034101.61744184
26Olfactory transduction_Homo sapiens_hsa047401.61619951
27Sulfur metabolism_Homo sapiens_hsa009201.58426973
28Mismatch repair_Homo sapiens_hsa034301.57866681
29Collecting duct acid secretion_Homo sapiens_hsa049661.55336292
30Nicotine addiction_Homo sapiens_hsa050331.48635855
31Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.48411472
32Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.44857239
33Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.43534470
34Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.43217185
35Homologous recombination_Homo sapiens_hsa034401.42470581
36Tryptophan metabolism_Homo sapiens_hsa003801.40796806
37Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.39833001
38Folate biosynthesis_Homo sapiens_hsa007901.39807308
39Nitrogen metabolism_Homo sapiens_hsa009101.36919376
40Epstein-Barr virus infection_Homo sapiens_hsa051691.36359391
41Maturity onset diabetes of the young_Homo sapiens_hsa049501.36091846
42Primary bile acid biosynthesis_Homo sapiens_hsa001201.34230915
43Ether lipid metabolism_Homo sapiens_hsa005651.29911244
44Cardiac muscle contraction_Homo sapiens_hsa042601.29190485
45Bladder cancer_Homo sapiens_hsa052191.27569253
46Regulation of autophagy_Homo sapiens_hsa041401.26741857
47Basal transcription factors_Homo sapiens_hsa030221.25942953
48Sulfur relay system_Homo sapiens_hsa041221.23386855
49Shigellosis_Homo sapiens_hsa051311.22486760
50One carbon pool by folate_Homo sapiens_hsa006701.21862485
51Taste transduction_Homo sapiens_hsa047421.21576778
52Steroid hormone biosynthesis_Homo sapiens_hsa001401.21455079
53Peroxisome_Homo sapiens_hsa041461.21384035
54Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.21165097
55Purine metabolism_Homo sapiens_hsa002301.20700941
56Pentose phosphate pathway_Homo sapiens_hsa000301.16617420
57Chemical carcinogenesis_Homo sapiens_hsa052041.14965101
58Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.13717283
59Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.13077226
60Caffeine metabolism_Homo sapiens_hsa002321.09436439
61Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.06500750
62Apoptosis_Homo sapiens_hsa042101.05593290
63Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.03142727
64Thyroid cancer_Homo sapiens_hsa052161.02931343
65Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.02922904
66Fatty acid elongation_Homo sapiens_hsa000620.96416942
67Protein export_Homo sapiens_hsa030600.94930141
68Propanoate metabolism_Homo sapiens_hsa006400.92489474
69Cyanoamino acid metabolism_Homo sapiens_hsa004600.90860524
70Metabolic pathways_Homo sapiens_hsa011000.89881543
71ECM-receptor interaction_Homo sapiens_hsa045120.89625318
72Ovarian steroidogenesis_Homo sapiens_hsa049130.89466294
73Intestinal immune network for IgA production_Homo sapiens_hsa046720.89127570
74Morphine addiction_Homo sapiens_hsa050320.88068279
75Lysosome_Homo sapiens_hsa041420.85834689
76Fat digestion and absorption_Homo sapiens_hsa049750.85799679
77Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.85430505
78Renin-angiotensin system_Homo sapiens_hsa046140.85118538
79Glutathione metabolism_Homo sapiens_hsa004800.84658296
80Sphingolipid metabolism_Homo sapiens_hsa006000.83574176
81Viral carcinogenesis_Homo sapiens_hsa052030.80658516
82Primary immunodeficiency_Homo sapiens_hsa053400.80152832
83Antigen processing and presentation_Homo sapiens_hsa046120.80128164
84Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.78896402
85Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.76585780
86Small cell lung cancer_Homo sapiens_hsa052220.76215825
87Synaptic vesicle cycle_Homo sapiens_hsa047210.75601637
88Phagosome_Homo sapiens_hsa041450.74549248
89Fructose and mannose metabolism_Homo sapiens_hsa000510.74129923
90beta-Alanine metabolism_Homo sapiens_hsa004100.73255812
91Legionellosis_Homo sapiens_hsa051340.72913968
92Huntingtons disease_Homo sapiens_hsa050160.72685569
93Rheumatoid arthritis_Homo sapiens_hsa053230.70736421
94TGF-beta signaling pathway_Homo sapiens_hsa043500.70626034
95Vitamin digestion and absorption_Homo sapiens_hsa049770.69897678
96RNA degradation_Homo sapiens_hsa030180.69358999
97Drug metabolism - other enzymes_Homo sapiens_hsa009830.68791736
98GABAergic synapse_Homo sapiens_hsa047270.68133534
99Proteoglycans in cancer_Homo sapiens_hsa052050.68045957
100Arachidonic acid metabolism_Homo sapiens_hsa005900.65986095
101Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.65811419
102Retinol metabolism_Homo sapiens_hsa008300.64279777
103HIF-1 signaling pathway_Homo sapiens_hsa040660.64111484
104ABC transporters_Homo sapiens_hsa020100.63765127
105Oxidative phosphorylation_Homo sapiens_hsa001900.63534809
106Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.63405521
107MicroRNAs in cancer_Homo sapiens_hsa052060.62156886
108Focal adhesion_Homo sapiens_hsa045100.61774551
109AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.60406932
110Salivary secretion_Homo sapiens_hsa049700.60038158
111Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.59819939
112Malaria_Homo sapiens_hsa051440.59783819
113HTLV-I infection_Homo sapiens_hsa051660.58753582
114Selenocompound metabolism_Homo sapiens_hsa004500.58115566
115Chronic myeloid leukemia_Homo sapiens_hsa052200.56021812
116Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.55162463
117SNARE interactions in vesicular transport_Homo sapiens_hsa041300.54680284
118Fatty acid metabolism_Homo sapiens_hsa012120.54647832
119Cysteine and methionine metabolism_Homo sapiens_hsa002700.54491907
120Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.53907761
121Adherens junction_Homo sapiens_hsa045200.52696489
122Parkinsons disease_Homo sapiens_hsa050120.51661847
123Insulin secretion_Homo sapiens_hsa049110.51061257
124Fatty acid degradation_Homo sapiens_hsa000710.50125250
125Hippo signaling pathway_Homo sapiens_hsa043900.49669051
126Oocyte meiosis_Homo sapiens_hsa041140.49591352
127Melanoma_Homo sapiens_hsa052180.49084831
128Protein digestion and absorption_Homo sapiens_hsa049740.47947460
129Arginine and proline metabolism_Homo sapiens_hsa003300.47906577
130Hepatitis B_Homo sapiens_hsa051610.47549377
131Calcium signaling pathway_Homo sapiens_hsa040200.47462869
132Salmonella infection_Homo sapiens_hsa051320.47339939
133Asthma_Homo sapiens_hsa053100.47242252
134Fanconi anemia pathway_Homo sapiens_hsa034600.47126911
135Glycerolipid metabolism_Homo sapiens_hsa005610.47109223
136Tight junction_Homo sapiens_hsa045300.47096638
137Serotonergic synapse_Homo sapiens_hsa047260.46882194
138Tuberculosis_Homo sapiens_hsa051520.46750489
139Glycerophospholipid metabolism_Homo sapiens_hsa005640.46536269
140Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.46398244
141Circadian entrainment_Homo sapiens_hsa047130.45654951
142Leukocyte transendothelial migration_Homo sapiens_hsa046700.45244839
143Cocaine addiction_Homo sapiens_hsa050300.44837407
144Pyruvate metabolism_Homo sapiens_hsa006200.44587465
145NOD-like receptor signaling pathway_Homo sapiens_hsa046210.44015259
146Mineral absorption_Homo sapiens_hsa049780.43864967
147Glutamatergic synapse_Homo sapiens_hsa047240.43678749
148Galactose metabolism_Homo sapiens_hsa000520.42790463
149Other glycan degradation_Homo sapiens_hsa005110.42516419
150Hematopoietic cell lineage_Homo sapiens_hsa046400.42200493
151Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.42008297
152NF-kappa B signaling pathway_Homo sapiens_hsa040640.41198797
153Glycosaminoglycan degradation_Homo sapiens_hsa005310.40796872
154TNF signaling pathway_Homo sapiens_hsa046680.40235858
155Herpes simplex infection_Homo sapiens_hsa051680.40176350
156Prostate cancer_Homo sapiens_hsa052150.39027968
157Amoebiasis_Homo sapiens_hsa051460.38494669
158Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.38321594
159Fatty acid biosynthesis_Homo sapiens_hsa000610.38315500
160Leishmaniasis_Homo sapiens_hsa051400.38282142
161Pentose and glucuronate interconversions_Homo sapiens_hsa000400.38275223
162Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.37887774
163Acute myeloid leukemia_Homo sapiens_hsa052210.37140441
164Tyrosine metabolism_Homo sapiens_hsa003500.36913095
165Vibrio cholerae infection_Homo sapiens_hsa051100.36724882
166PI3K-Akt signaling pathway_Homo sapiens_hsa041510.35825139
167mRNA surveillance pathway_Homo sapiens_hsa030150.35514256
168VEGF signaling pathway_Homo sapiens_hsa043700.35402555
169Regulation of actin cytoskeleton_Homo sapiens_hsa048100.34593117
170N-Glycan biosynthesis_Homo sapiens_hsa005100.33288655
171Steroid biosynthesis_Homo sapiens_hsa001000.32572993
172Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.31237579
173Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.30449733

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