GEMIN6

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: GEMIN6 is part of a large macromolecular complex, localized to both the cytoplasm and the nucleus, that plays a role in the cytoplasmic assembly of small nuclear ribonucleoproteins (snRNPs). Other members of this complex include SMN (MIM 600354), GEMIN2 (SIP1; MIM 602595), GEMIN3 (DDX20; MIM 606168), GEMIN4 (MIM 606969), and GEMIN5 (MIM 607005). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1behavioral response to nicotine (GO:0035095)6.00667161
2DNA deamination (GO:0045006)5.25973507
3ribosomal small subunit assembly (GO:0000028)5.02608567
4DNA strand elongation involved in DNA replication (GO:0006271)4.84101498
5maturation of SSU-rRNA (GO:0030490)4.74049781
6telomere maintenance via semi-conservative replication (GO:0032201)4.60224594
7DNA strand elongation (GO:0022616)4.59747067
8L-fucose catabolic process (GO:0042355)4.57707302
9fucose catabolic process (GO:0019317)4.57707302
10L-fucose metabolic process (GO:0042354)4.57707302
11DNA replication initiation (GO:0006270)4.56549712
12nucleobase biosynthetic process (GO:0046112)4.42858693
13CENP-A containing nucleosome assembly (GO:0034080)4.39166452
14chromatin remodeling at centromere (GO:0031055)4.33627988
15purine nucleobase biosynthetic process (GO:0009113)4.32998660
16DNA replication checkpoint (GO:0000076)4.25600164
17ribosomal large subunit biogenesis (GO:0042273)4.23400924
18proteasome assembly (GO:0043248)4.21383912
19formation of translation preinitiation complex (GO:0001731)4.17685122
20telomere maintenance via recombination (GO:0000722)4.16627309
21viral transcription (GO:0019083)4.11489631
22translational termination (GO:0006415)4.09332259
23ribosomal small subunit biogenesis (GO:0042274)4.06123201
24mitochondrial respiratory chain complex I assembly (GO:0032981)3.99797086
25NADH dehydrogenase complex assembly (GO:0010257)3.99797086
26mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.99797086
27ribonucleoprotein complex biogenesis (GO:0022613)3.98065678
28mitotic metaphase plate congression (GO:0007080)3.97351285
29protein complex biogenesis (GO:0070271)3.95777566
30ribosome biogenesis (GO:0042254)3.93003414
31ribosome assembly (GO:0042255)3.88480776
32mitotic recombination (GO:0006312)3.85974617
33mitochondrial respiratory chain complex assembly (GO:0033108)3.85386349
34DNA replication-independent nucleosome assembly (GO:0006336)3.84834463
35DNA replication-independent nucleosome organization (GO:0034724)3.84834463
36tryptophan catabolic process (GO:0006569)3.83706763
37indole-containing compound catabolic process (GO:0042436)3.83706763
38indolalkylamine catabolic process (GO:0046218)3.83706763
39termination of RNA polymerase III transcription (GO:0006386)3.82108786
40transcription elongation from RNA polymerase III promoter (GO:0006385)3.82108786
41response to pheromone (GO:0019236)3.81330988
42kynurenine metabolic process (GO:0070189)3.80486149
43SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.76482631
44translational elongation (GO:0006414)3.75816186
45respiratory chain complex IV assembly (GO:0008535)3.70217414
46DNA unwinding involved in DNA replication (GO:0006268)3.69680997
47kinetochore organization (GO:0051383)3.69447206
48negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.68985902
49deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.68890629
50mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.68719532
51translational initiation (GO:0006413)3.68608729
52cotranslational protein targeting to membrane (GO:0006613)3.68109961
53telomere maintenance via telomere lengthening (GO:0010833)3.67067999
54protein targeting to ER (GO:0045047)3.65483157
55pseudouridine synthesis (GO:0001522)3.64485682
56rRNA processing (GO:0006364)3.64339342
57energy coupled proton transport, down electrochemical gradient (GO:0015985)3.63242181
58ATP synthesis coupled proton transport (GO:0015986)3.63242181
59rRNA modification (GO:0000154)3.61760506
60* spliceosomal snRNP assembly (GO:0000387)3.59601108
61anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.57496718
62folic acid-containing compound biosynthetic process (GO:0009396)3.55949981
63regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.55232275
64water-soluble vitamin biosynthetic process (GO:0042364)3.54488182
65positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.54380029
66kinetochore assembly (GO:0051382)3.53580571
67histone exchange (GO:0043486)3.53529666
68nucleotide-excision repair, DNA gap filling (GO:0006297)3.53476853
69IMP biosynthetic process (GO:0006188)3.53165230
70DNA replication-dependent nucleosome assembly (GO:0006335)3.52988801
71DNA replication-dependent nucleosome organization (GO:0034723)3.52988801
72protein localization to kinetochore (GO:0034501)3.52238991
73rRNA metabolic process (GO:0016072)3.50855165
74transcription-coupled nucleotide-excision repair (GO:0006283)3.50439440
75metaphase plate congression (GO:0051310)3.47730351
76protein localization to endoplasmic reticulum (GO:0070972)3.46558798
77establishment of protein localization to endoplasmic reticulum (GO:0072599)3.45626630
78translation (GO:0006412)3.43225285
79indolalkylamine metabolic process (GO:0006586)3.41126367
80negative regulation of telomere maintenance (GO:0032205)3.40200181
81regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.39437591
82cellular ketone body metabolic process (GO:0046950)3.37307049
83nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.37218346
847-methylguanosine mRNA capping (GO:0006370)3.37007037
85establishment of integrated proviral latency (GO:0075713)3.36528517
86negative regulation of ligase activity (GO:0051352)3.35764021
87negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.35764021
88tryptophan metabolic process (GO:0006568)3.34759661
89exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.30820273
90viral mRNA export from host cell nucleus (GO:0046784)3.30704534
91protein-cofactor linkage (GO:0018065)3.30625565
927-methylguanosine RNA capping (GO:0009452)3.30362113
93RNA capping (GO:0036260)3.30362113
94IMP metabolic process (GO:0046040)3.28731934
95ubiquinone biosynthetic process (GO:0006744)3.28487851
96cellular protein complex disassembly (GO:0043624)3.28045399
97mitotic nuclear envelope disassembly (GO:0007077)3.25886290
98deoxyribonucleotide biosynthetic process (GO:0009263)3.24730787
99cellular component biogenesis (GO:0044085)3.24470482
100viral life cycle (GO:0019058)3.23488174
101nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.23427072
102mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.22705262
103G1/S transition of mitotic cell cycle (GO:0000082)3.21962660
104cell cycle G1/S phase transition (GO:0044843)3.21962660
105detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.21736890
106cytochrome complex assembly (GO:0017004)3.21702165
107establishment of chromosome localization (GO:0051303)3.20925594
108attachment of spindle microtubules to kinetochore (GO:0008608)3.20363603
109maturation of 5.8S rRNA (GO:0000460)3.18379340
110platelet dense granule organization (GO:0060155)3.16158903
111ketone body metabolic process (GO:1902224)3.16130707
112* spliceosomal complex assembly (GO:0000245)3.15574460
113DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.14933566
114protein localization to chromosome, centromeric region (GO:0071459)3.14665418
115intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.12143722
116signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.12143722
117epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.12099403
118establishment of protein localization to mitochondrial membrane (GO:0090151)3.11408420
119signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.11205761
120signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.11205761
121signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.11205761
122termination of RNA polymerase I transcription (GO:0006363)3.11038994
123positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.09181652
124replication fork processing (GO:0031297)3.08665170
125transcription elongation from RNA polymerase I promoter (GO:0006362)3.07900626
126signal transduction involved in DNA integrity checkpoint (GO:0072401)3.07192032
127signal transduction involved in DNA damage checkpoint (GO:0072422)3.07192032
128ubiquinone metabolic process (GO:0006743)3.05356171
129deoxyribose phosphate biosynthetic process (GO:0046385)3.04641479
1302-deoxyribonucleotide biosynthetic process (GO:0009265)3.04641479
131dopamine transport (GO:0015872)3.04064612
132signal transduction involved in cell cycle checkpoint (GO:0072395)3.02965081
133nephron tubule morphogenesis (GO:0072078)3.02750624
134nephron epithelium morphogenesis (GO:0072088)3.02750624
135regulation of nuclear cell cycle DNA replication (GO:0033262)3.01514913
136regulation of cellular amino acid metabolic process (GO:0006521)3.01431716
137folic acid metabolic process (GO:0046655)3.00198683
138L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.00191554
139indole-containing compound metabolic process (GO:0042430)2.95489797
140neuronal action potential (GO:0019228)2.95305214
141negative regulation of DNA-dependent DNA replication (GO:2000104)2.95090281
142electron transport chain (GO:0022900)2.91993130
143nonmotile primary cilium assembly (GO:0035058)2.91145947
144sulfation (GO:0051923)2.88563284
145respiratory electron transport chain (GO:0022904)2.81428694
146epithelial cilium movement (GO:0003351)2.81022845
147regulation of mesoderm development (GO:2000380)2.75222146
148reciprocal DNA recombination (GO:0035825)2.73702033
149reciprocal meiotic recombination (GO:0007131)2.73702033
150peristalsis (GO:0030432)2.72362289
151piRNA metabolic process (GO:0034587)2.72068119
152protein polyglutamylation (GO:0018095)2.72067587
153primary amino compound metabolic process (GO:1901160)2.71947551
154RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.71504884
155RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.70438156
156tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.70438156
157intracellular protein transmembrane import (GO:0044743)2.70369902
158recombinational repair (GO:0000725)2.66112229
159rRNA catabolic process (GO:0016075)2.63127777
160double-strand break repair via homologous recombination (GO:0000724)2.63118791
161mitochondrial RNA metabolic process (GO:0000959)2.61857130
162fucosylation (GO:0036065)2.59907415
163mitochondrion morphogenesis (GO:0070584)2.59283120
164serotonin metabolic process (GO:0042428)2.59014290
165negative regulation of translation, ncRNA-mediated (GO:0040033)2.58267405
166regulation of translation, ncRNA-mediated (GO:0045974)2.58267405
167negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.58267405
168protein K6-linked ubiquitination (GO:0085020)2.56019329
169quinone biosynthetic process (GO:1901663)2.53501193
170cornea development in camera-type eye (GO:0061303)2.52861789
171histone-serine phosphorylation (GO:0035404)2.52428386
172synapsis (GO:0007129)2.52172766
173behavioral response to ethanol (GO:0048149)2.51499121
174preassembly of GPI anchor in ER membrane (GO:0016254)2.49585404
175mannosylation (GO:0097502)2.49198568
176regulation of hippo signaling (GO:0035330)2.48911842
177protein import into peroxisome matrix (GO:0016558)2.48100799
178hydrogen ion transmembrane transport (GO:1902600)2.47966659
179meiotic chromosome segregation (GO:0045132)2.47511878
180kidney morphogenesis (GO:0060993)2.46715136
181protein neddylation (GO:0045116)2.45736346
182tRNA processing (GO:0008033)2.45338289
183regulation of gene silencing by RNA (GO:0060966)2.44900290
184regulation of posttranscriptional gene silencing (GO:0060147)2.44900290
185regulation of gene silencing by miRNA (GO:0060964)2.44900290
186negative regulation of synaptic transmission, GABAergic (GO:0032229)2.43783505
187cellular biogenic amine catabolic process (GO:0042402)2.43257358
188amine catabolic process (GO:0009310)2.43257358
189cilium movement (GO:0003341)2.42692505
190regulation of cilium movement (GO:0003352)2.42243044
191axoneme assembly (GO:0035082)2.42105807

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human7.61601414
2MYC_18555785_ChIP-Seq_MESCs_Mouse4.53677608
3ZNF274_21170338_ChIP-Seq_K562_Hela4.52326648
4KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.07691759
5EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.69518923
6* EST1_17652178_ChIP-ChIP_JURKAT_Human3.52969729
7GABP_17652178_ChIP-ChIP_JURKAT_Human3.52794640
8VDR_22108803_ChIP-Seq_LS180_Human3.47005752
9JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.41893322
10E2F4_17652178_ChIP-ChIP_JURKAT_Human3.40901805
11* ETS1_20019798_ChIP-Seq_JURKAT_Human3.20941091
12EZH2_22144423_ChIP-Seq_EOC_Human3.19780045
13* MYC_18358816_ChIP-ChIP_MESCs_Mouse3.08023629
14FOXM1_23109430_ChIP-Seq_U2OS_Human3.07879055
15CREB1_15753290_ChIP-ChIP_HEK293T_Human3.06096983
16MYC_19079543_ChIP-ChIP_MESCs_Mouse3.03435497
17FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.00026847
18* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.98059300
19HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.92471436
20NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.80952306
21GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.66445667
22CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.60172655
23* VDR_23849224_ChIP-Seq_CD4+_Human2.50216664
24E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.47304310
25ELF1_17652178_ChIP-ChIP_JURKAT_Human2.46428725
26XRN2_22483619_ChIP-Seq_HELA_Human2.40550025
27* NELFA_20434984_ChIP-Seq_ESCs_Mouse2.39686667
28GBX2_23144817_ChIP-Seq_PC3_Human2.39121735
29EWS_26573619_Chip-Seq_HEK293_Human2.29184201
30* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.28337690
31* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.24519143
32SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.21397859
33DCP1A_22483619_ChIP-Seq_HELA_Human2.20419588
34GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.15818023
35ZFP57_27257070_Chip-Seq_ESCs_Mouse2.14282158
36FOXP3_21729870_ChIP-Seq_TREG_Human2.13198341
37FLI1_27457419_Chip-Seq_LIVER_Mouse2.10250512
38GABP_19822575_ChIP-Seq_HepG2_Human2.01837350
39MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.01098376
40CTBP2_25329375_ChIP-Seq_LNCAP_Human2.00956404
41FUS_26573619_Chip-Seq_HEK293_Human2.00424820
42CTBP1_25329375_ChIP-Seq_LNCAP_Human1.98375533
43* THAP11_20581084_ChIP-Seq_MESCs_Mouse1.96147046
44EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.95932246
45* MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.94989906
46AR_21909140_ChIP-Seq_LNCAP_Human1.94181087
47CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.93633855
48TTF2_22483619_ChIP-Seq_HELA_Human1.93456572
49PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.90858030
50ELK1_19687146_ChIP-ChIP_HELA_Human1.89991708
51IRF1_19129219_ChIP-ChIP_H3396_Human1.89669738
52* SRF_21415370_ChIP-Seq_HL-1_Mouse1.87755496
53FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.86181276
54MYCN_18555785_ChIP-Seq_MESCs_Mouse1.85810412
55YY1_21170310_ChIP-Seq_MESCs_Mouse1.84998301
56POU3F2_20337985_ChIP-ChIP_501MEL_Human1.81409577
57* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.80444809
58POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.80311168
59E2F1_21310950_ChIP-Seq_MCF-7_Human1.77147570
60P300_19829295_ChIP-Seq_ESCs_Human1.76031617
61NANOG_18555785_ChIP-Seq_MESCs_Mouse1.74964956
62IGF1R_20145208_ChIP-Seq_DFB_Human1.73754182
63ER_23166858_ChIP-Seq_MCF-7_Human1.67680561
64MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.66568914
65PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.66451872
66TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.66411021
67NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.66363859
68PCGF2_27294783_Chip-Seq_ESCs_Mouse1.65421783
69YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.64760071
70* ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.64006806
71SALL1_21062744_ChIP-ChIP_HESCs_Human1.62459382
72HOXB4_20404135_ChIP-ChIP_EML_Mouse1.61660852
73TAF15_26573619_Chip-Seq_HEK293_Human1.61537213
74* TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.59083651
75ZFX_18555785_ChIP-Seq_MESCs_Mouse1.54939208
76TP53_22573176_ChIP-Seq_HFKS_Human1.54099390
77MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.53753213
78BMI1_23680149_ChIP-Seq_NPCS_Mouse1.52832112
79FOXA1_25329375_ChIP-Seq_VCAP_Human1.50181314
80FOXA1_27270436_Chip-Seq_PROSTATE_Human1.50181314
81CIITA_25753668_ChIP-Seq_RAJI_Human1.46743591
82RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.46203596
83KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.40577874
84ERG_20887958_ChIP-Seq_HPC-7_Mouse1.36283819
85* FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.36237877
86KDM5A_27292631_Chip-Seq_BREAST_Human1.33427307
87UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.33213229
88HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.31856023
89CBX2_27304074_Chip-Seq_ESCs_Mouse1.30600099
90POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.29660017
91NANOG_19829295_ChIP-Seq_ESCs_Human1.29320748
92SOX2_19829295_ChIP-Seq_ESCs_Human1.29320748
93REST_21632747_ChIP-Seq_MESCs_Mouse1.29027046
94SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.27994656
95GATA3_21878914_ChIP-Seq_MCF-7_Human1.27794525
96BCAT_22108803_ChIP-Seq_LS180_Human1.26910968
97PCGF2_27294783_Chip-Seq_NPCs_Mouse1.26157977
98PIAS1_25552417_ChIP-Seq_VCAP_Human1.26051132
99AR_25329375_ChIP-Seq_VCAP_Human1.25366661
100CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.25276969
101PADI4_21655091_ChIP-ChIP_MCF-7_Human1.24650898
102AR_20517297_ChIP-Seq_VCAP_Human1.22393165
103GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.20794184
104POU5F1_16153702_ChIP-ChIP_HESCs_Human1.20324528
105TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.19532116
106POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.19532116
107STAT3_23295773_ChIP-Seq_U87_Human1.17888100
108ETV2_25802403_ChIP-Seq_MESCs_Mouse1.16728110
109HOXB7_26014856_ChIP-Seq_BT474_Human1.16087027
110IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.15920373
111CBP_20019798_ChIP-Seq_JUKART_Human1.15920373
112NCOR_22424771_ChIP-Seq_293T_Human1.14198340
113POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.13814468
114AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.13479618
115* ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.13375959
116BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.10795729
117E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.10794971
118NOTCH1_21737748_ChIP-Seq_TLL_Human1.09560013
119FOXA1_21572438_ChIP-Seq_LNCaP_Human1.09369492
120TCF4_23295773_ChIP-Seq_U87_Human1.09330659
121ELK1_22589737_ChIP-Seq_MCF10A_Human1.09226949
122SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.09081262
123NR3C1_21868756_ChIP-Seq_MCF10A_Human1.08718463
124NFE2_27457419_Chip-Seq_LIVER_Mouse1.08704467
125RNF2_27304074_Chip-Seq_NSC_Mouse1.06735422
126CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.06682014
127TFEB_21752829_ChIP-Seq_HELA_Human1.06623526
128SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.06412201
129MYC_18940864_ChIP-ChIP_HL60_Human1.06336337
130* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.06050079
131TCF4_22108803_ChIP-Seq_LS180_Human1.05948830
132SUZ12_27294783_Chip-Seq_NPCs_Mouse1.05797555
133MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.05498003
134STAT3_1855785_ChIP-Seq_MESCs_Mouse1.04557564
135CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.03920925
136KLF4_18555785_ChIP-Seq_MESCs_Mouse1.03738722
137ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.02420621
138EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.02354684
139ERA_21632823_ChIP-Seq_H3396_Human1.02201309
140SMAD3_21741376_ChIP-Seq_EPCs_Human1.00991514
141RUNX2_22187159_ChIP-Seq_PCA_Human1.00153197
142SMAD4_21799915_ChIP-Seq_A2780_Human0.99344000
143SMAD4_21741376_ChIP-Seq_EPCs_Human0.99309446
144CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.98501412
145SOX2_18555785_ChIP-Seq_MESCs_Mouse0.98179819
146KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.97193858
147RBPJ_22232070_ChIP-Seq_NCS_Mouse0.96739157
148EZH2_27294783_Chip-Seq_NPCs_Mouse0.95931024
149AR_21572438_ChIP-Seq_LNCaP_Human0.95736348
150DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.95672825
151SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.93619949
152FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.93177364
153KLF5_20875108_ChIP-Seq_MESCs_Mouse0.92610688
154PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.91889261
155* CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.91865709
156NANOG_20526341_ChIP-Seq_ESCs_Human0.90648993
157LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse0.90258640
158FOXH1_21741376_ChIP-Seq_EPCs_Human0.90114864
159* GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.89716281
160JUN_21703547_ChIP-Seq_K562_Human0.89701536
161EGR1_23403033_ChIP-Seq_LIVER_Mouse0.89659288
162PRDM14_20953172_ChIP-Seq_ESCs_Human0.89177452
163EGR1_19374776_ChIP-ChIP_THP-1_Human0.88835040
164CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.88654570
165CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.88050756
166* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.87829875
167CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.87596089
168MYC_22102868_ChIP-Seq_BL_Human0.87084426
169SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.86045588
170SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.85588088
171DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.85219227
172SPI1_23547873_ChIP-Seq_NB4_Human0.84689096
173HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.80012188
174* CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.77808806
175FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.76181981
176TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.75884167
177SOX17_20123909_ChIP-Seq_XEN_Mouse0.75281249
178TP63_19390658_ChIP-ChIP_HaCaT_Human0.73834870
179HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.72510992
180* CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.71521150
181NANOG_21062744_ChIP-ChIP_HESCs_Human0.70797608

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching6.49260310
2MP0004957_abnormal_blastocyst_morpholog5.12618724
3MP0010094_abnormal_chromosome_stability5.06471214
4MP0003111_abnormal_nucleus_morphology4.63507634
5MP0003077_abnormal_cell_cycle4.25838828
6MP0008057_abnormal_DNA_replication3.99640648
7MP0008058_abnormal_DNA_repair3.95002826
8MP0003136_yellow_coat_color3.23050244
9MP0008932_abnormal_embryonic_tissue3.03368233
10MP0008007_abnormal_cellular_replicative3.02686523
11MP0003806_abnormal_nucleotide_metabolis2.78073025
12MP0003195_calcinosis2.76259030
13MP0003123_paternal_imprinting2.61079230
14MP0001730_embryonic_growth_arrest2.40621635
15MP0003880_abnormal_central_pattern2.31215341
16MP0003786_premature_aging2.30038788
17MP0003718_maternal_effect2.27985942
18MP0005551_abnormal_eye_electrophysiolog2.15314702
19MP0001485_abnormal_pinna_reflex2.15076026
20MP0000350_abnormal_cell_proliferation2.14151483
21MP0008877_abnormal_DNA_methylation2.11256991
22MP0000569_abnormal_digit_pigmentation2.10636536
23MP0002396_abnormal_hematopoietic_system2.07513515
24MP0008875_abnormal_xenobiotic_pharmacok2.07464463
25MP0008872_abnormal_physiological_respon2.06857401
26MP0004142_abnormal_muscle_tone1.97494373
27MP0009379_abnormal_foot_pigmentation1.92970075
28MP0009046_muscle_twitch1.91473761
29MP0000490_abnormal_crypts_of1.85468001
30MP0001968_abnormal_touch/_nociception1.84196991
31MP0002653_abnormal_ependyma_morphology1.83345427
32MP0009745_abnormal_behavioral_response1.77292079
33MP0003011_delayed_dark_adaptation1.76431280
34MP0005084_abnormal_gallbladder_morpholo1.71791314
35MP0004885_abnormal_endolymph1.70367759
36MP0003646_muscle_fatigue1.69359764
37MP0003186_abnormal_redox_activity1.68162818
38MP0002837_dystrophic_cardiac_calcinosis1.68019853
39MP0000427_abnormal_hair_cycle1.63033550
40MP0002876_abnormal_thyroid_physiology1.60926688
41MP0001697_abnormal_embryo_size1.60777715
42MP0004043_abnormal_pH_regulation1.59041529
43MP0002736_abnormal_nociception_after1.57162229
44MP0002080_prenatal_lethality1.53984048
45MP0001672_abnormal_embryogenesis/_devel1.53813457
46MP0005380_embryogenesis_phenotype1.53813457
47MP0000313_abnormal_cell_death1.53131099
48MP0004742_abnormal_vestibular_system1.52602056
49MP0005253_abnormal_eye_physiology1.52537714
50MP0006036_abnormal_mitochondrial_physio1.52204158
51MP0006292_abnormal_olfactory_placode1.51675935
52MP0005377_hearing/vestibular/ear_phenot1.51423009
53MP0003878_abnormal_ear_physiology1.51423009
54MP0005174_abnormal_tail_pigmentation1.50861409
55MP0000631_abnormal_neuroendocrine_gland1.46721329
56MP0002272_abnormal_nervous_system1.46104190
57MP0010352_gastrointestinal_tract_polyps1.43660682
58MP0010307_abnormal_tumor_latency1.40403246
59MP0009697_abnormal_copulation1.38162426
60MP0002019_abnormal_tumor_incidence1.37572370
61MP0004147_increased_porphyrin_level1.36627110
62MP0003984_embryonic_growth_retardation1.35791011
63MP0003283_abnormal_digestive_organ1.35591004
64MP0002234_abnormal_pharynx_morphology1.33575961
65MP0002928_abnormal_bile_duct1.32763900
66MP0003315_abnormal_perineum_morphology1.32202924
67MP0005645_abnormal_hypothalamus_physiol1.32133928
68MP0005646_abnormal_pituitary_gland1.32099990
69MP0002088_abnormal_embryonic_growth/wei1.31009012
70MP0009333_abnormal_splenocyte_physiolog1.29419424
71MP0002085_abnormal_embryonic_tissue1.28004627
72MP0002210_abnormal_sex_determination1.26620684
73MP0006054_spinal_hemorrhage1.24896980
74MP0002277_abnormal_respiratory_mucosa1.24099807
75MP0004133_heterotaxia1.23611603
76MP0005075_abnormal_melanosome_morpholog1.21611649
77MP0002735_abnormal_chemical_nociception1.21388545
78MP0004808_abnormal_hematopoietic_stem1.20988621
79MP0006035_abnormal_mitochondrial_morpho1.19495324
80MP0002160_abnormal_reproductive_system1.18209331
81MP0003567_abnormal_fetal_cardiomyocyte1.15989855
82MP0002064_seizures1.15181847
83MP0001145_abnormal_male_reproductive1.13775561
84MP0000358_abnormal_cell_content/1.13619678
85MP0004145_abnormal_muscle_electrophysio1.12929133
86MP0005195_abnormal_posterior_eye1.11512155
87MP0002084_abnormal_developmental_patter1.10146151
88MP0002572_abnormal_emotion/affect_behav1.09679192
89MP0002067_abnormal_sensory_capabilities1.09330111
90MP0006276_abnormal_autonomic_nervous1.08825860
91MP0003787_abnormal_imprinting1.08777708
92MP0001929_abnormal_gametogenesis1.08714823
93MP0002086_abnormal_extraembryonic_tissu1.07361139
94MP0003890_abnormal_embryonic-extraembry1.05999281
95MP0000026_abnormal_inner_ear1.04990200
96MP0005389_reproductive_system_phenotype1.04840429
97MP0001486_abnormal_startle_reflex1.04274150
98MP0001970_abnormal_pain_threshold1.03072309
99MP0002733_abnormal_thermal_nociception1.02975105
100MP0004215_abnormal_myocardial_fiber1.01964214
101MP0001324_abnormal_eye_pigmentation1.01839595
102MP0003121_genomic_imprinting1.00579730
103MP0000653_abnormal_sex_gland1.00007355
104MP0005379_endocrine/exocrine_gland_phen0.99346632
105MP0001293_anophthalmia0.96111620
106MP0001905_abnormal_dopamine_level0.95880649
107MP0004197_abnormal_fetal_growth/weight/0.95328938
108MP0003937_abnormal_limbs/digits/tail_de0.95083279
109MP0001501_abnormal_sleep_pattern0.94839810
110MP0005408_hypopigmentation0.94727216
111MP0005171_absent_coat_pigmentation0.94555386
112MP0002557_abnormal_social/conspecific_i0.94295204
113MP0005332_abnormal_amino_acid0.93017147
114MP0000778_abnormal_nervous_system0.92775863
115MP0001545_abnormal_hematopoietic_system0.91307039
116MP0005397_hematopoietic_system_phenotyp0.91307039
117MP0000647_abnormal_sebaceous_gland0.89920543
118MP0001984_abnormal_olfaction0.89650112
119MP0003137_abnormal_impulse_conducting0.89557999
120MP0000703_abnormal_thymus_morphology0.89385034
121MP0002398_abnormal_bone_marrow0.89301185
122MP0002752_abnormal_somatic_nervous0.89122227
123MP0002132_abnormal_respiratory_system0.88916063
124MP0003763_abnormal_thymus_physiology0.88552178
125MP0000383_abnormal_hair_follicle0.87799194
126MP0005410_abnormal_fertilization0.87210527
127MP0002722_abnormal_immune_system0.86544515
128MP0000689_abnormal_spleen_morphology0.86341960
129MP0005085_abnormal_gallbladder_physiolo0.86124583
130MP0005386_behavior/neurological_phenoty0.84778388
131MP0004924_abnormal_behavior0.84778388
132MP0001727_abnormal_embryo_implantation0.84621582
133MP0005266_abnormal_metabolism0.84122999
134MP0002184_abnormal_innervation0.82709908
135MP0002063_abnormal_learning/memory/cond0.82688024
136MP0010386_abnormal_urinary_bladder0.82326529
137MP0001764_abnormal_homeostasis0.81715980
138MP0000230_abnormal_systemic_arterial0.81531173
139MP0001119_abnormal_female_reproductive0.80097488
140MP0001853_heart_inflammation0.79094709
141MP0003221_abnormal_cardiomyocyte_apopto0.78651737
142MP0005384_cellular_phenotype0.77554959
143MP0001529_abnormal_vocalization0.74769357
144MP0002429_abnormal_blood_cell0.73078698
145MP0003656_abnormal_erythrocyte_physiolo0.71992320
146MP0000858_altered_metastatic_potential0.70693390
147MP0001919_abnormal_reproductive_system0.69889696
148MP0010030_abnormal_orbit_morphology0.66392212
149MP0009672_abnormal_birth_weight0.65533718
150MP0002095_abnormal_skin_pigmentation0.65247184
151MP0001986_abnormal_taste_sensitivity0.64220346
152MP0002938_white_spotting0.62812114
153MP0005621_abnormal_cell_physiology0.60362300
154MP0005395_other_phenotype0.58082037
155MP0001186_pigmentation_phenotype0.57631366
156MP0006072_abnormal_retinal_apoptosis0.56925092
157MP0003119_abnormal_digestive_system0.56740394
158MP0002163_abnormal_gland_morphology0.56580159
159MP0002638_abnormal_pupillary_reflex0.54602004
160MP0000716_abnormal_immune_system0.54398891
161MP0002751_abnormal_autonomic_nervous0.52954765
162MP0005220_abnormal_exocrine_pancreas0.51785107
163MP0003941_abnormal_skin_development0.51535474
164MP0003698_abnormal_male_reproductive0.50840561
165MP0000477_abnormal_intestine_morphology0.49993509
166MP0001188_hyperpigmentation0.49615580
167MP0000678_abnormal_parathyroid_gland0.48824493
168MP0000372_irregular_coat_pigmentation0.48628005
169MP0002111_abnormal_tail_morphology0.47204773
170MP0002102_abnormal_ear_morphology0.47076880

Predicted human phenotypes

RankGene SetZ-score
1Birth length less than 3rd percentile (HP:0003561)5.79114456
2Abnormality of cells of the erythroid lineage (HP:0012130)5.39065440
3Abnormal number of erythroid precursors (HP:0012131)5.31508362
4Reticulocytopenia (HP:0001896)4.72410641
5Breast hypoplasia (HP:0003187)4.47350599
6Molar tooth sign on MRI (HP:0002419)4.24027650
7Abnormality of midbrain morphology (HP:0002418)4.24027650
8Oral leukoplakia (HP:0002745)3.87421441
9Abnormality of pyruvate family amino acid metabolism (HP:0010915)3.85006888
10Abnormality of alanine metabolism (HP:0010916)3.85006888
11Hyperalaninemia (HP:0003348)3.85006888
12Pancreatic fibrosis (HP:0100732)3.76699969
13Congenital stationary night blindness (HP:0007642)3.63513152
14True hermaphroditism (HP:0010459)3.62955280
15Aplastic anemia (HP:0001915)3.56780066
16Carpal bone hypoplasia (HP:0001498)3.53260380
17Rough bone trabeculation (HP:0100670)3.48239643
18Macrocytic anemia (HP:0001972)3.41979521
19Cerebral hypomyelination (HP:0006808)3.40246959
20Nephronophthisis (HP:0000090)3.30329077
21Patellar aplasia (HP:0006443)3.25345435
22Pallor (HP:0000980)3.24568756
23Chromsome breakage (HP:0040012)3.15151079
24Type II lissencephaly (HP:0007260)3.15055515
25Acute necrotizing encephalopathy (HP:0006965)3.13091795
26Abnormality of the preputium (HP:0100587)3.10221664
27Colon cancer (HP:0003003)3.03632886
28Aplasia/Hypoplasia of the patella (HP:0006498)3.01498188
29Chromosomal breakage induced by crosslinking agents (HP:0003221)2.99486287
30Aplasia/Hypoplasia of the sacrum (HP:0008517)2.98270246
31Meckel diverticulum (HP:0002245)2.98071311
32Large for gestational age (HP:0001520)2.98016418
33Abnormality of chromosome stability (HP:0003220)2.97120995
34Congenital, generalized hypertrichosis (HP:0004540)2.95768296
35Absent thumb (HP:0009777)2.93947813
36Degeneration of anterior horn cells (HP:0002398)2.93034511
37Abnormality of the anterior horn cell (HP:0006802)2.93034511
38Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.91400790
39Decreased activity of mitochondrial respiratory chain (HP:0008972)2.91400790
40Abnormal mitochondria in muscle tissue (HP:0008316)2.88364303
4111 pairs of ribs (HP:0000878)2.84269764
42Increased CSF lactate (HP:0002490)2.83779720
43Mitochondrial inheritance (HP:0001427)2.82814949
44Abnormality of the ileum (HP:0001549)2.82802892
45Type I transferrin isoform profile (HP:0003642)2.82371029
46Premature graying of hair (HP:0002216)2.81753459
47Abnormality of the renal medulla (HP:0100957)2.79912706
48Increased serum lactate (HP:0002151)2.78140244
49Microretrognathia (HP:0000308)2.77161185
50Increased hepatocellular lipid droplets (HP:0006565)2.71885511
51Abnormal trabecular bone morphology (HP:0100671)2.70557903
523-Methylglutaconic aciduria (HP:0003535)2.67538358
53Agnosia (HP:0010524)2.65986344
54Inability to walk (HP:0002540)2.65889399
55Medulloblastoma (HP:0002885)2.64944351
56Aplasia/Hypoplasia of the uvula (HP:0010293)2.64167101
57Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.63930768
58Abnormality of the renal cortex (HP:0011035)2.62854713
59Bone marrow hypocellularity (HP:0005528)2.58594961
60Pendular nystagmus (HP:0012043)2.57128751
61Hepatocellular necrosis (HP:0001404)2.56153015
62Microvesicular hepatic steatosis (HP:0001414)2.56139120
63Sclerocornea (HP:0000647)2.56074313
64Selective tooth agenesis (HP:0001592)2.54536280
65Cystic liver disease (HP:0006706)2.52174359
66Horseshoe kidney (HP:0000085)2.52004413
67Abnormality of the heme biosynthetic pathway (HP:0010472)2.51821115
68Myelodysplasia (HP:0002863)2.49707641
69Attenuation of retinal blood vessels (HP:0007843)2.49607705
70Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.48532841
71Acute encephalopathy (HP:0006846)2.46164516
72Furrowed tongue (HP:0000221)2.45568138
73Lipid accumulation in hepatocytes (HP:0006561)2.44582096
74Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.44184554
75Absent radius (HP:0003974)2.42273531
76Poor head control (HP:0002421)2.42072906
77Medial flaring of the eyebrow (HP:0010747)2.40649623
78Progressive inability to walk (HP:0002505)2.40456281
79Hepatic necrosis (HP:0002605)2.40117924
80Abnormality of the pons (HP:0007361)2.39362722
81Abolished electroretinogram (ERG) (HP:0000550)2.39216351
82Pancytopenia (HP:0001876)2.39206216
83Progressive macrocephaly (HP:0004481)2.38937122
84Tubular atrophy (HP:0000092)2.37642906
85Duplicated collecting system (HP:0000081)2.36591623
86Chronic hepatic failure (HP:0100626)2.32326809
87Progressive muscle weakness (HP:0003323)2.31966009
88Dynein arm defect of respiratory motile cilia (HP:0012255)2.31477014
89Absent/shortened dynein arms (HP:0200106)2.31477014
90Neoplasm of the pancreas (HP:0002894)2.30756726
91Secondary amenorrhea (HP:0000869)2.30065040
92Duodenal stenosis (HP:0100867)2.29810163
93Small intestinal stenosis (HP:0012848)2.29810163
94Aplasia/hypoplasia of the uterus (HP:0008684)2.28963841
95CNS hypomyelination (HP:0003429)2.27977479
96Hypoplasia of the pons (HP:0012110)2.27096430
97Cellular immunodeficiency (HP:0005374)2.26996005
98Concave nail (HP:0001598)2.26458897
99Aplasia involving forearm bones (HP:0009822)2.23126059
100Absent forearm bone (HP:0003953)2.23126059
101Optic disc pallor (HP:0000543)2.22895561
102Lissencephaly (HP:0001339)2.21910401
103Trismus (HP:0000211)2.20584309
104Premature ovarian failure (HP:0008209)2.20561463
105Multiple enchondromatosis (HP:0005701)2.20107826
106Exercise intolerance (HP:0003546)2.19448402
107Impulsivity (HP:0100710)2.19301931
108Thrombocytosis (HP:0001894)2.15073220
109Hyperventilation (HP:0002883)2.12126817
110Ependymoma (HP:0002888)2.11877647
111Hypoplasia of the capital femoral epiphysis (HP:0003090)2.11237546
112Sloping forehead (HP:0000340)2.10381232
113Sparse eyelashes (HP:0000653)2.09898322
114Exertional dyspnea (HP:0002875)2.09643159
115Triphalangeal thumb (HP:0001199)2.08343443
116Cerebellar dysplasia (HP:0007033)2.08079865
117Oligodactyly (hands) (HP:0001180)2.07533818
118Chorioretinal atrophy (HP:0000533)2.04451688
119Lactic acidosis (HP:0003128)2.04380881
120Aplasia/Hypoplasia of the tongue (HP:0010295)2.03956356
121Supernumerary spleens (HP:0009799)2.03668859
122Cleft eyelid (HP:0000625)2.01921758
123Abnormal protein glycosylation (HP:0012346)2.01672751
124Abnormal glycosylation (HP:0012345)2.01672751
125Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.01672751
126Abnormal protein N-linked glycosylation (HP:0012347)2.01672751
127Bilateral microphthalmos (HP:0007633)2.01604165
128Abnormal drinking behavior (HP:0030082)2.00442968
129Polydipsia (HP:0001959)2.00442968
130Abnormal rod and cone electroretinograms (HP:0008323)1.99039471
131Reduced antithrombin III activity (HP:0001976)1.98563543
132Abnormality of the renal collecting system (HP:0004742)1.98527141
133Anencephaly (HP:0002323)1.98141505
134Male pseudohermaphroditism (HP:0000037)1.97541533
135Abnormal ciliary motility (HP:0012262)1.95511664
136Rhabdomyosarcoma (HP:0002859)1.95094807
137Methylmalonic acidemia (HP:0002912)1.94979692
138Abnormal respiratory motile cilium morphology (HP:0005938)1.94725734
139Abnormal respiratory epithelium morphology (HP:0012253)1.94725734
140Pancreatic cysts (HP:0001737)1.93027885
141Megaloblastic anemia (HP:0001889)1.92830892
142Abnormal lung lobation (HP:0002101)1.91700625
143Slender long bone (HP:0003100)1.91562276
144Abnormality of the labia minora (HP:0012880)1.91063234
145Bile duct proliferation (HP:0001408)1.91036086
146Abnormal biliary tract physiology (HP:0012439)1.91036086
147Irregular epiphyses (HP:0010582)1.90845760
148Optic nerve coloboma (HP:0000588)1.89704053
149Tracheoesophageal fistula (HP:0002575)1.89300322
150Abnormality of the duodenum (HP:0002246)1.88456887
151Respiratory difficulties (HP:0002880)1.87897273
152Progressive cerebellar ataxia (HP:0002073)1.87070832
153Decreased electroretinogram (ERG) amplitude (HP:0000654)1.86574911
154Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.85977982
155Severe muscular hypotonia (HP:0006829)1.85467508
156Gait imbalance (HP:0002141)1.83762714
157Decreased circulating renin level (HP:0003351)1.82291202
158Anophthalmia (HP:0000528)1.81265235
159Congenital hepatic fibrosis (HP:0002612)1.81195215
160Aplasia/Hypoplasia of the tibia (HP:0005772)1.80591945
161Congenital primary aphakia (HP:0007707)1.79032503
162Abnormality of serum amino acid levels (HP:0003112)1.78823888
163Protruding tongue (HP:0010808)1.78698115
164Increased corneal curvature (HP:0100692)1.78358811
165Keratoconus (HP:0000563)1.78358811
166Renal cortical cysts (HP:0000803)1.78187221
167Tachypnea (HP:0002789)1.77601964
168Hyperglycinuria (HP:0003108)1.76884617
169Broad-based gait (HP:0002136)1.75472703
170Clumsiness (HP:0002312)1.73755160
171Partial agenesis of the corpus callosum (HP:0001338)1.70856350
172Methylmalonic aciduria (HP:0012120)1.70226275
173Decreased central vision (HP:0007663)1.68988588
174Renal Fanconi syndrome (HP:0001994)1.67846176

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB14.74064390
2WEE14.52029062
3FRK4.26153598
4EIF2AK13.63634967
5BMPR1B3.62619993
6CDC73.46262892
7ADRBK23.38924137
8STK163.16774321
9WNK42.91087112
10BRSK22.85624685
11SRPK12.84015188
12NME22.82025921
13EIF2AK32.74711323
14PLK42.72210410
15INSRR2.67240186
16VRK12.55315323
17TNIK2.39348829
18NEK22.29375180
19GRK12.27530241
20TSSK62.20254914
21NME12.09597716
22NUAK12.08935086
23ACVR1B2.08207944
24NEK12.06578537
25TESK22.05898270
26PLK12.01168033
27TTK1.97882712
28PASK1.79155933
29CCNB11.78079921
30PINK11.77835968
31BRSK11.69542038
32PLK31.67667865
33MAP4K21.67598888
34DYRK31.67361464
35AURKB1.67289993
36TLK11.58466682
37MKNK11.55204282
38ATR1.55132206
39PBK1.50154957
40RPS6KA41.47541168
41CDK71.44537802
42OXSR11.40564778
43CASK1.40406284
44MAPK131.32345086
45ADRBK11.30203324
46MAP3K41.29934587
47ZAK1.28110862
48AURKA1.27520013
49VRK21.25766687
50TAOK31.21163215
51CHEK21.20404603
52EPHA21.20186323
53PIM21.20138528
54MAPK151.19780308
55MKNK21.16513554
56DAPK21.14812475
57STK391.14591491
58RPS6KB21.13665689
59SCYL21.12857143
60CAMKK21.12713646
61BRAF1.09276041
62MAP3K81.02062724
63EIF2AK20.97952781
64SIK20.97461989
65PRKCG0.95658668
66CHEK10.95423741
67MAP2K70.91387223
68TESK10.90509937
69CDK40.86057410
70STK40.85418462
71BCKDK0.84495065
72PAK40.83751732
73CSNK2A10.79964384
74CSNK2A20.78073614
75CDK80.77724771
76KDR0.75000324
77TRIM280.74497814
78PIK3CA0.72782016
79FLT30.72424804
80RPS6KA50.72011450
81PIM10.71909168
82TAF10.71360948
83TIE10.71173013
84TXK0.70870950
85PRKCE0.68942900
86ATM0.68880033
87NTRK30.68336646
88STK100.66609196
89MAPKAPK50.66592631
90PAK30.64431607
91PAK10.63877539
92DYRK20.63779597
93CDK20.63640055
94MARK10.61097603
95PNCK0.60557059
96TEC0.57771723
97ABL20.57559660
98TGFBR10.55907647
99CSNK1G20.55446961
100ARAF0.54906624
101PHKG10.54656044
102PHKG20.54656044
103MAP2K60.53798221
104NTRK20.51810240
105IRAK30.51254547
106PRKCI0.49394513
107PKN10.49336921
108CDK10.47968823
109PRKCQ0.47841758
110PTK2B0.47776700
111MAP3K110.46919623
112AKT30.45908551
113STK38L0.43971255
114CSNK1G10.43865385
115MST40.42895223
116STK110.42274167
117PLK20.41665332
118CAMK2A0.41033120
119LIMK10.39606791
120RPS6KA60.36082688
121PRKACA0.35827559
122CSNK1D0.35200616
123STK30.35089900
124LRRK20.33028953
125IRAK40.32849208
126MELK0.31694095
127MAP2K10.30864138
128MAP4K10.30701345
129DAPK10.29666987
130CSNK1A10.29574778
131CAMK10.29441225
132MAP2K20.29198041
133ILK0.28451447
134YES10.28261159
135NLK0.27519198
136CHUK0.27110799
137PRKCA0.26734468
138CDK60.25733799
139WNK30.25291356
140RAF10.25246240
141IKBKB0.23249490
142ALK0.23205412
143CSNK1E0.23086777
144BTK0.23027746
145PIK3CG0.22193594
146CSNK1G30.20727130
147MUSK0.20676818
148MAP3K30.19928173
149PRKDC0.19589929
150PDK40.19420380
151PDK30.19420380
152CDK190.19088523
153BRD40.17429470
154MAPKAPK30.17421517
155LYN0.15720551
156AKT20.10250256
157MAP2K30.09673253

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030304.82871026
2Mismatch repair_Homo sapiens_hsa034304.17798748
3Ribosome_Homo sapiens_hsa030104.16669693
4RNA polymerase_Homo sapiens_hsa030204.07428973
5Proteasome_Homo sapiens_hsa030503.97398205
6Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.49807361
7Spliceosome_Homo sapiens_hsa030403.17396020
8Homologous recombination_Homo sapiens_hsa034402.99589920
9Pyrimidine metabolism_Homo sapiens_hsa002402.89011387
10* RNA transport_Homo sapiens_hsa030132.80227564
11Nucleotide excision repair_Homo sapiens_hsa034202.78494556
12Base excision repair_Homo sapiens_hsa034102.77209071
13Nitrogen metabolism_Homo sapiens_hsa009102.45044691
14Cell cycle_Homo sapiens_hsa041102.33212892
15One carbon pool by folate_Homo sapiens_hsa006702.30657082
16Phototransduction_Homo sapiens_hsa047442.25174168
17Fanconi anemia pathway_Homo sapiens_hsa034602.21674194
18Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.18311251
19Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.17136872
20Protein export_Homo sapiens_hsa030602.06110592
21Non-homologous end-joining_Homo sapiens_hsa034502.05939589
22Basal transcription factors_Homo sapiens_hsa030222.04109971
23Butanoate metabolism_Homo sapiens_hsa006502.03012414
24RNA degradation_Homo sapiens_hsa030181.95770566
25Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.85817081
26Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.82651194
27Nicotine addiction_Homo sapiens_hsa050331.75806226
28Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.70987558
29Tryptophan metabolism_Homo sapiens_hsa003801.68085372
30Purine metabolism_Homo sapiens_hsa002301.66402087
31Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.63030270
32Caffeine metabolism_Homo sapiens_hsa002321.53838114
33Parkinsons disease_Homo sapiens_hsa050121.47160017
34Folate biosynthesis_Homo sapiens_hsa007901.46861283
35Oxidative phosphorylation_Homo sapiens_hsa001901.40445274
36Ether lipid metabolism_Homo sapiens_hsa005651.39875274
37Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.38324124
38Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.35273786
39Huntingtons disease_Homo sapiens_hsa050161.34107213
40Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.27887082
41p53 signaling pathway_Homo sapiens_hsa041151.27574797
42mRNA surveillance pathway_Homo sapiens_hsa030151.26476361
43Epstein-Barr virus infection_Homo sapiens_hsa051691.12600170
44Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.12019349
45Chemical carcinogenesis_Homo sapiens_hsa052041.09801612
46Olfactory transduction_Homo sapiens_hsa047401.08639899
47Peroxisome_Homo sapiens_hsa041461.07548923
48Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.05412784
49Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.04015564
50Systemic lupus erythematosus_Homo sapiens_hsa053221.01978637
51Propanoate metabolism_Homo sapiens_hsa006401.00582094
52Taste transduction_Homo sapiens_hsa047421.00433792
53Morphine addiction_Homo sapiens_hsa050321.00132200
54Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.98036625
55Cysteine and methionine metabolism_Homo sapiens_hsa002700.96199334
56Primary bile acid biosynthesis_Homo sapiens_hsa001200.95123102
57Steroid hormone biosynthesis_Homo sapiens_hsa001400.92800221
58Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.91855234
59Pentose phosphate pathway_Homo sapiens_hsa000300.91774082
60Cyanoamino acid metabolism_Homo sapiens_hsa004600.84877584
61Drug metabolism - other enzymes_Homo sapiens_hsa009830.81829459
62Glutathione metabolism_Homo sapiens_hsa004800.81207029
63Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.81183728
64Sulfur relay system_Homo sapiens_hsa041220.79031672
65Vitamin digestion and absorption_Homo sapiens_hsa049770.78457891
66Sulfur metabolism_Homo sapiens_hsa009200.77819415
67Retinol metabolism_Homo sapiens_hsa008300.77362009
68Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.76191106
69Oocyte meiosis_Homo sapiens_hsa041140.76157366
70Biosynthesis of amino acids_Homo sapiens_hsa012300.74612904
71Alzheimers disease_Homo sapiens_hsa050100.73303002
72Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.71592816
73Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.71413395
74Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.70604473
75ABC transporters_Homo sapiens_hsa020100.70158014
76Antigen processing and presentation_Homo sapiens_hsa046120.69376006
77beta-Alanine metabolism_Homo sapiens_hsa004100.68790305
78Steroid biosynthesis_Homo sapiens_hsa001000.68629126
79Collecting duct acid secretion_Homo sapiens_hsa049660.68202045
80Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.67674028
81Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.67653203
82Selenocompound metabolism_Homo sapiens_hsa004500.66517708
83Vitamin B6 metabolism_Homo sapiens_hsa007500.64931163
84Serotonergic synapse_Homo sapiens_hsa047260.64226630
85Pentose and glucuronate interconversions_Homo sapiens_hsa000400.63764965
86Basal cell carcinoma_Homo sapiens_hsa052170.62338303
87Herpes simplex infection_Homo sapiens_hsa051680.60595930
88Viral carcinogenesis_Homo sapiens_hsa052030.60586600
89Fat digestion and absorption_Homo sapiens_hsa049750.60278551
90Insulin secretion_Homo sapiens_hsa049110.57596272
91Histidine metabolism_Homo sapiens_hsa003400.57301370
92Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.57169995
93Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.57033227
94GABAergic synapse_Homo sapiens_hsa047270.56915839
95Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.55940075
96Carbon metabolism_Homo sapiens_hsa012000.55786433
97Ovarian steroidogenesis_Homo sapiens_hsa049130.53761098
98Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.53646186
99Mineral absorption_Homo sapiens_hsa049780.53195471
100Hedgehog signaling pathway_Homo sapiens_hsa043400.52027049
101Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.50888241
102Circadian entrainment_Homo sapiens_hsa047130.50650264
103Glutamatergic synapse_Homo sapiens_hsa047240.50435785
104Fructose and mannose metabolism_Homo sapiens_hsa000510.49255796
105Metabolic pathways_Homo sapiens_hsa011000.48814067
106Glycerolipid metabolism_Homo sapiens_hsa005610.48065159
107Maturity onset diabetes of the young_Homo sapiens_hsa049500.47755069
108N-Glycan biosynthesis_Homo sapiens_hsa005100.46822918
109Calcium signaling pathway_Homo sapiens_hsa040200.46046991
110Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.43678399
111Legionellosis_Homo sapiens_hsa051340.41813956
112Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.40763890
113Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.37858784
114HTLV-I infection_Homo sapiens_hsa051660.34918046
115Cocaine addiction_Homo sapiens_hsa050300.33060482
116Alcoholism_Homo sapiens_hsa050340.32640504
117Dopaminergic synapse_Homo sapiens_hsa047280.30948468
118Arachidonic acid metabolism_Homo sapiens_hsa005900.29874025
119Galactose metabolism_Homo sapiens_hsa000520.29518434
120Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.29334531
1212-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.29232552
122Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.26885119
123Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.26774356
124Thyroid cancer_Homo sapiens_hsa052160.23146257
125Regulation of autophagy_Homo sapiens_hsa041400.23000443
126Linoleic acid metabolism_Homo sapiens_hsa005910.20979866
127Primary immunodeficiency_Homo sapiens_hsa053400.20464088
128SNARE interactions in vesicular transport_Homo sapiens_hsa041300.20189775
129Pyruvate metabolism_Homo sapiens_hsa006200.19726004
130Arginine and proline metabolism_Homo sapiens_hsa003300.19438553
131Apoptosis_Homo sapiens_hsa042100.14771082
132Renin-angiotensin system_Homo sapiens_hsa046140.12799874
133Cardiac muscle contraction_Homo sapiens_hsa042600.10115836
134Small cell lung cancer_Homo sapiens_hsa052220.10067592
135Transcriptional misregulation in cancer_Homo sapiens_hsa052020.04842156
136Hepatitis B_Homo sapiens_hsa051610.04820473
137Other glycan degradation_Homo sapiens_hsa005110.04435961
138Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.04237115
139alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.04071794
140Measles_Homo sapiens_hsa051620.03497190
141RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.03067751
142MicroRNAs in cancer_Homo sapiens_hsa052060.01619123
143Hematopoietic cell lineage_Homo sapiens_hsa046400.01269423
144Type I diabetes mellitus_Homo sapiens_hsa04940-0.0336444
145HIF-1 signaling pathway_Homo sapiens_hsa04066-0.0207948
146Asthma_Homo sapiens_hsa05310-0.0206577
147NF-kappa B signaling pathway_Homo sapiens_hsa04064-0.0170004
148Intestinal immune network for IgA production_Homo sapiens_hsa04672-0.0098639
149Allograft rejection_Homo sapiens_hsa05330-0.0069202
150TGF-beta signaling pathway_Homo sapiens_hsa04350-0.0025297
151Shigellosis_Homo sapiens_hsa05131-0.0015110

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