ALX1

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





Description: The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1fusion of sperm to egg plasma membrane (GO:0007342)8.44065028
2cilium or flagellum-dependent cell motility (GO:0001539)8.40803167
3cell wall macromolecule catabolic process (GO:0016998)7.75158562
4cell wall macromolecule metabolic process (GO:0044036)7.75158562
5acrosome assembly (GO:0001675)7.67133647
6sperm-egg recognition (GO:0035036)7.46035388
7sperm motility (GO:0030317)7.21838548
8multicellular organism reproduction (GO:0032504)7.07860322
9binding of sperm to zona pellucida (GO:0007339)6.69896108
10cell-cell recognition (GO:0009988)6.57250265
11piRNA metabolic process (GO:0034587)6.41314536
12plasma membrane fusion (GO:0045026)6.21705575
13male meiosis (GO:0007140)6.12838475
14axonemal dynein complex assembly (GO:0070286)6.09121853
15acrosome reaction (GO:0007340)6.01560086
16reproduction (GO:0000003)5.75563218
17epithelial cilium movement (GO:0003351)5.71334882
18spermatid development (GO:0007286)5.63931198
19synaptonemal complex assembly (GO:0007130)5.63796173
20synaptonemal complex organization (GO:0070193)5.57998792
21motile cilium assembly (GO:0044458)5.38734979
22chaperone-mediated protein transport (GO:0072321)4.96713079
23negative regulation of DNA repair (GO:0045738)4.92250134
24epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.86884244
25cilium movement (GO:0003341)4.83960515
26single fertilization (GO:0007338)4.47706857
27mitotic sister chromatid cohesion (GO:0007064)4.42767857
28establishment of protein localization to mitochondrial membrane (GO:0090151)4.40585772
29ribosomal small subunit biogenesis (GO:0042274)4.38476052
30microtubule depolymerization (GO:0007019)4.31658036
31mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.28192345
32DNA methylation involved in gamete generation (GO:0043046)4.22751241
33proteasome assembly (GO:0043248)4.20184169
34regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450914.19235257
35ribosomal small subunit assembly (GO:0000028)4.11376137
36regulation of cilium movement (GO:0003352)4.08487545
37head development (GO:0060322)4.01923716
38ribosomal large subunit biogenesis (GO:0042273)3.99644072
39chromosome organization involved in meiosis (GO:0070192)3.95398595
40lateral sprouting from an epithelium (GO:0060601)3.94781345
41sperm capacitation (GO:0048240)3.94395053
42genitalia morphogenesis (GO:0035112)3.93643117
43viral transcription (GO:0019083)3.91043708
44CENP-A containing nucleosome assembly (GO:0034080)3.88451448
45chromatin remodeling at centromere (GO:0031055)3.86501754
46spermatogenesis (GO:0007283)3.86160426
47outer ear morphogenesis (GO:0042473)3.86159152
48fertilization (GO:0009566)3.86015402
49male gamete generation (GO:0048232)3.85033479
50translational termination (GO:0006415)3.84617517
51meiotic nuclear division (GO:0007126)3.80522700
52planar cell polarity pathway involved in neural tube closure (GO:0090179)3.73754205
53ATP synthesis coupled proton transport (GO:0015986)3.67159847
54energy coupled proton transport, down electrochemical gradient (GO:0015985)3.67159847
55formation of translation preinitiation complex (GO:0001731)3.64364873
56SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.64174718
57regulation of centriole replication (GO:0046599)3.63634689
58nuclear pore complex assembly (GO:0051292)3.63005240
59male meiosis I (GO:0007141)3.62358235
60transcription from mitochondrial promoter (GO:0006390)3.61311674
61maturation of SSU-rRNA (GO:0030490)3.61178024
62embryonic forelimb morphogenesis (GO:0035115)3.59165108
63DNA strand elongation involved in DNA replication (GO:0006271)3.59037345
64cotranslational protein targeting to membrane (GO:0006613)3.57788394
65gamete generation (GO:0007276)3.55874702
66monoubiquitinated protein deubiquitination (GO:0035520)3.54561188
67regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.54427063
68positive regulation of macrophage activation (GO:0043032)3.53955518
69ventricular system development (GO:0021591)3.52498980
70chromosome condensation (GO:0030261)3.51062983
71protein targeting to ER (GO:0045047)3.50261337
72cellular process involved in reproduction in multicellular organism (GO:0022412)3.49387311
73cell migration involved in heart development (GO:0060973)3.47961193
74DNA packaging (GO:0006323)3.47460431
75DNA strand elongation (GO:0022616)3.47177048
76germ cell development (GO:0007281)3.47044374
77mitochondrial respiratory chain complex I assembly (GO:0032981)3.46987691
78NADH dehydrogenase complex assembly (GO:0010257)3.46987691
79mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.46987691
80embryonic hindlimb morphogenesis (GO:0035116)3.45462452
81melanin biosynthetic process (GO:0042438)3.44864466
82protein targeting to mitochondrion (GO:0006626)3.43812653
83regulation of mitochondrial translation (GO:0070129)3.42955368
84cell recognition (GO:0008037)3.40759406
85telomere maintenance via semi-conservative replication (GO:0032201)3.39722565
86termination of RNA polymerase III transcription (GO:0006386)3.39641829
87transcription elongation from RNA polymerase III promoter (GO:0006385)3.39641829
88mitotic sister chromatid segregation (GO:0000070)3.39060289
89establishment of protein localization to endoplasmic reticulum (GO:0072599)3.35210007
90mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.34982108
91translational elongation (GO:0006414)3.34048404
92oxidative phosphorylation (GO:0006119)3.32125354
93protein localization to endoplasmic reticulum (GO:0070972)3.28992169
94translational initiation (GO:0006413)3.28920694
95gene silencing by RNA (GO:0031047)3.27274195
96midgut development (GO:0007494)3.26203372
97translation (GO:0006412)3.26016649
98respiratory electron transport chain (GO:0022904)3.25005150
99spliceosomal snRNP assembly (GO:0000387)3.24463433
100mitochondrial respiratory chain complex assembly (GO:0033108)3.23275950
101nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.22040069
102protein complex biogenesis (GO:0070271)3.20277690
103nuclear pore organization (GO:0006999)3.20064815
104negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.19840510
105mitotic metaphase plate congression (GO:0007080)3.19698017
106protein neddylation (GO:0045116)3.18844881
107mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)3.18553052
108melanin metabolic process (GO:0006582)3.17458832
109establishment of protein localization to mitochondrion (GO:0072655)3.16010555
110anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.15923800
111cullin deneddylation (GO:0010388)3.15033890
112regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.14678317
113microtubule severing (GO:0051013)3.13263041
114protein deneddylation (GO:0000338)3.12952729
115electron transport chain (GO:0022900)3.12838296
116spermatid nucleus differentiation (GO:0007289)3.12236010
117purine nucleobase biosynthetic process (GO:0009113)3.12210752
118DNA replication checkpoint (GO:0000076)3.11424487
119protein localization to mitochondrion (GO:0070585)3.10964417
120histone exchange (GO:0043486)3.10951723
121negative regulation of axon extension involved in axon guidance (GO:0048843)3.07286973
122hindlimb morphogenesis (GO:0035137)3.07075512
123exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.06165124
124DNA damage response, detection of DNA damage (GO:0042769)3.05896664
125forelimb morphogenesis (GO:0035136)3.05844046
126nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.05179868
127ribonucleoprotein complex biogenesis (GO:0022613)3.05137511
128cellular protein complex disassembly (GO:0043624)3.04503218
129ventricular cardiac muscle cell development (GO:0055015)3.04387688
130pseudouridine synthesis (GO:0001522)3.02972055
131sister chromatid segregation (GO:0000819)3.02932679
132respiratory chain complex IV assembly (GO:0008535)3.02877424
133negative regulation of mRNA splicing, via spliceosome (GO:0048025)3.01779238
134regulation of spindle checkpoint (GO:0090231)3.00659335
135positive regulation of transcription regulatory region DNA binding (GO:2000679)3.00617392
136pigment biosynthetic process (GO:0046148)3.00550481
137DNA replication-independent nucleosome assembly (GO:0006336)3.00084757
138DNA replication-independent nucleosome organization (GO:0034724)3.00084757
139regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)2.98344177
140body morphogenesis (GO:0010171)2.97129291
141negative regulation of cell fate specification (GO:0009996)2.96893087
142craniofacial suture morphogenesis (GO:0097094)2.96839820
143positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.96761771
144middle ear morphogenesis (GO:0042474)2.96645915
145cellular component biogenesis (GO:0044085)2.96316882
146enteric nervous system development (GO:0048484)2.95920468
147negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.94214091
148negative regulation of ligase activity (GO:0051352)2.94214091
149bone trabecula formation (GO:0060346)2.93494338
150G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.93211027
151rRNA processing (GO:0006364)2.92283471
152protein localization to kinetochore (GO:0034501)2.92212406
153regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.92135330
154regulation of heart morphogenesis (GO:2000826)2.91125559
155nucleobase biosynthetic process (GO:0046112)2.90744210
156meiotic cell cycle (GO:0051321)2.90532302
157glomerular filtration (GO:0003094)2.88675355
158viral life cycle (GO:0019058)2.88621401
159ribosome assembly (GO:0042255)2.87473539
160embryonic cranial skeleton morphogenesis (GO:0048701)2.87421122
161organic cation transport (GO:0015695)2.87356021
162meiosis I (GO:0007127)2.86599812
163negative regulation of inclusion body assembly (GO:0090084)2.86580232
164positive regulation of catenin import into nucleus (GO:0035413)2.86438938
165telomere maintenance via recombination (GO:0000722)2.85751053
166regulation of mitotic spindle organization (GO:0060236)2.85599047
167regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)2.85098833
168double-strand break repair via nonhomologous end joining (GO:0006303)2.84087460
169non-recombinational repair (GO:0000726)2.84087460
170positive regulation of smoothened signaling pathway (GO:0045880)2.83734153
171embryonic body morphogenesis (GO:0010172)2.83373948
172kinetochore assembly (GO:0051382)2.82691538
173mesenchymal-epithelial cell signaling (GO:0060638)2.82606289
174seminiferous tubule development (GO:0072520)2.81668420
175regulation of RNA export from nucleus (GO:0046831)2.81306564
176positive regulation of chromosome segregation (GO:0051984)2.81235803
177negative regulation of embryonic development (GO:0045992)2.80813971
178rRNA modification (GO:0000154)2.80632437
179secondary metabolite biosynthetic process (GO:0044550)2.79851873
180kinetochore organization (GO:0051383)2.79636534
181rRNA metabolic process (GO:0016072)2.79612139
182regulation of non-canonical Wnt signaling pathway (GO:2000050)2.79177493
183negative regulation of mRNA processing (GO:0050686)2.78561819
184multicellular organismal reproductive process (GO:0048609)2.77753875
185cochlea morphogenesis (GO:0090103)2.77168821
186hippo signaling (GO:0035329)2.76831405
187paraxial mesoderm development (GO:0048339)2.76145390
188chaperone-mediated protein complex assembly (GO:0051131)2.76123337
189regulation of nephron tubule epithelial cell differentiation (GO:0072182)2.75968418
190negative regulation of organelle assembly (GO:1902116)2.75715169
191mitotic recombination (GO:0006312)2.74921074
192nucleotide-excision repair, DNA gap filling (GO:0006297)2.74856817
193nucleobase-containing small molecule interconversion (GO:0015949)2.71039536
194negative regulation of RNA splicing (GO:0033119)2.70658034

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse8.48153645
2RBPJ_22232070_ChIP-Seq_NCS_Mouse6.59799553
3EZH2_22144423_ChIP-Seq_EOC_Human5.35856997
4KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.76258158
5MYC_18555785_ChIP-Seq_MESCs_Mouse4.21356199
6HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse4.06473506
7EST1_17652178_ChIP-ChIP_JURKAT_Human3.92638659
8GABP_17652178_ChIP-ChIP_JURKAT_Human3.92413408
9GLI1_17442700_ChIP-ChIP_MESCs_Mouse3.89941434
10ZFP322A_24550733_ChIP-Seq_MESCs_Mouse3.75679643
11HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.47020715
12JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.44760127
13CREB1_15753290_ChIP-ChIP_HEK293T_Human3.42883785
14ETS1_20019798_ChIP-Seq_JURKAT_Human3.26594776
15SALL1_21062744_ChIP-ChIP_HESCs_Human3.08837434
16EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.06467406
17FOXM1_23109430_ChIP-Seq_U2OS_Human2.92854557
18MYC_18358816_ChIP-ChIP_MESCs_Mouse2.92104678
19MYC_19030024_ChIP-ChIP_MESCs_Mouse2.86556077
20CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.85416050
21NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.78091761
22* CBX2_27304074_Chip-Seq_ESCs_Mouse2.72812900
23TP63_19390658_ChIP-ChIP_HaCaT_Human2.72633786
24THAP11_20581084_ChIP-Seq_MESCs_Mouse2.72392578
25MYC_19079543_ChIP-ChIP_MESCs_Mouse2.60213852
26E2F7_22180533_ChIP-Seq_HELA_Human2.57729802
27ELK1_19687146_ChIP-ChIP_HELA_Human2.50481159
28HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.47969527
29XRN2_22483619_ChIP-Seq_HELA_Human2.42047208
30STAT6_21828071_ChIP-Seq_BEAS2B_Human2.41275672
31ZNF274_21170338_ChIP-Seq_K562_Hela2.39027038
32TTF2_22483619_ChIP-Seq_HELA_Human2.33913169
33PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.33764134
34PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.26366635
35DCP1A_22483619_ChIP-Seq_HELA_Human2.23745810
36E2F1_18555785_ChIP-Seq_MESCs_Mouse2.21141956
37YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.08362393
38NELFA_20434984_ChIP-Seq_ESCs_Mouse2.07419428
39ELF1_17652178_ChIP-ChIP_JURKAT_Human2.07097701
40ZNF652_21678463_ChIP-ChIP_ZR75-1_Human2.06945456
41FOXP3_21729870_ChIP-Seq_TREG_Human2.06851265
42BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.05515956
43E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.03275552
44VDR_23849224_ChIP-Seq_CD4+_Human1.96476468
45GABP_19822575_ChIP-Seq_HepG2_Human1.96209883
46GATA1_26923725_Chip-Seq_HPCs_Mouse1.95319021
47FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.88877268
48MYCN_18555785_ChIP-Seq_MESCs_Mouse1.84872743
49CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.84271583
50KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.84183896
51BP1_19119308_ChIP-ChIP_Hs578T_Human1.83227536
52TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.81326340
53ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.80473856
54YY1_21170310_ChIP-Seq_MESCs_Mouse1.80122358
55FUS_26573619_Chip-Seq_HEK293_Human1.79368557
56E2F1_21310950_ChIP-Seq_MCF-7_Human1.73178736
57MYC_18940864_ChIP-ChIP_HL60_Human1.71814900
58SRF_21415370_ChIP-Seq_HL-1_Mouse1.67712667
59MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.62110380
60PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.61865533
61POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.61215053
62FLI1_27457419_Chip-Seq_LIVER_Mouse1.60048883
63SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.56829390
64AR_21909140_ChIP-Seq_LNCAP_Human1.56096249
65ZFX_18555785_ChIP-Seq_MESCs_Mouse1.55610307
66* RNF2_27304074_Chip-Seq_NSC_Mouse1.55326811
67E2F4_17652178_ChIP-ChIP_JURKAT_Human1.52959629
68PADI4_21655091_ChIP-ChIP_MCF-7_Human1.52751549
69ZFP57_27257070_Chip-Seq_ESCs_Mouse1.50243405
70PCGF2_27294783_Chip-Seq_ESCs_Mouse1.44377435
71HOXB4_20404135_ChIP-ChIP_EML_Mouse1.43904044
72CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.43080775
73ELK4_26923725_Chip-Seq_MESODERM_Mouse1.42980437
74CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.42028945
75* TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.40784388
76SOX2_18555785_ChIP-Seq_MESCs_Mouse1.38003103
77MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.37777733
78FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.36472660
79SOX9_26525672_Chip-Seq_HEART_Mouse1.35890462
80HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.35226163
81POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.32507648
82SOX17_20123909_ChIP-Seq_XEN_Mouse1.32408521
83NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.32168079
84* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.31966073
85* TAL1_26923725_Chip-Seq_HPCs_Mouse1.28237209
86NANOG_18555785_ChIP-Seq_MESCs_Mouse1.27265396
87* GF1B_26923725_Chip-Seq_HPCs_Mouse1.27117376
88TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.26992275
89POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.26224630
90TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.26224630
91MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.22916812
92VDR_22108803_ChIP-Seq_LS180_Human1.21286633
93* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.19420774
94EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.19410382
95GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.18236099
96SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.17762643
97RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.17433709
98KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.16881572
99CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.15882315
100MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.15790241
101ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.15348640
102SOX9_26525672_Chip-Seq_Limbbuds_Mouse1.14843715
103ERG_20887958_ChIP-Seq_HPC-7_Mouse1.13355055
104* GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse1.13157247
105NANOG_18555785_Chip-Seq_ESCs_Mouse1.12499227
106TFEB_21752829_ChIP-Seq_HELA_Human1.11825754
107E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.11690726
108TCF4_18268006_ChIP-ChIP_LS174T_Human1.11558137
109EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.10414226
110CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.10396927
111NANOG_16153702_ChIP-ChIP_HESCs_Human1.10033849
112CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.08349576
113* BMI1_23680149_ChIP-Seq_NPCS_Mouse1.08216535
114* ISL1_27105846_Chip-Seq_CPCs_Mouse1.07807744
115NFIB_24661679_ChIP-Seq_LUNG_Mouse1.06764406
116KDM5A_27292631_Chip-Seq_BREAST_Human1.06563169
117DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.06348985
118CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.06127891
119PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.05945065
120TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.05932986
121WT1_19549856_ChIP-ChIP_CCG9911_Human1.05447290
122POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.05357545
123KDM2B_26808549_Chip-Seq_REH_Human1.04978754
124SOX2_16153702_ChIP-ChIP_HESCs_Human1.04963405
125HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.04342363
126WDR5_24793694_ChIP-Seq_LNCAP_Human1.04081442
127RUNX1_26923725_Chip-Seq_HPCs_Mouse1.03012282
128CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.02887601
129NFE2_27457419_Chip-Seq_LIVER_Mouse1.02732544
130STAT1_17558387_ChIP-Seq_HELA_Human1.02473123
131PCGF2_27294783_Chip-Seq_NPCs_Mouse1.01100737
132* CBP_20019798_ChIP-Seq_JUKART_Human0.99577329
133* IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.99577329
134AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.99476072
135* FLI1_21867929_ChIP-Seq_TH2_Mouse0.98088733
136RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.97916943
137POU5F1_16153702_ChIP-ChIP_HESCs_Human0.97158011
138TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.96918906
139EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.96559507
140CDX2_19796622_ChIP-Seq_MESCs_Mouse0.95251689
141PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.95061086
142SUZ12_27294783_Chip-Seq_NPCs_Mouse0.95044643
143CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.94556034
144* GF1_26923725_Chip-Seq_HPCs_Mouse0.94460105
145ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.94322483
146ELK1_22589737_ChIP-Seq_MCF10A_Human0.93618557
147CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.93397190
148FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.91770749
149KAP1_22055183_ChIP-Seq_ESCs_Mouse0.90172898
150BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.88963962
151P53_22387025_ChIP-Seq_ESCs_Mouse0.87210642
152EP300_21415370_ChIP-Seq_HL-1_Mouse0.86992006
153TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.86067535
154NR3C1_21868756_ChIP-Seq_MCF10A_Human0.85779147
155CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.84610714
156TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.84545925
157CRX_20693478_ChIP-Seq_RETINA_Mouse0.83978463
158CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.83804833
159CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.83245324
160EZH2_27294783_Chip-Seq_NPCs_Mouse0.80377272
161SOX2_22085726_ChIP-Seq_NPCs_Mouse0.78977255
162SETDB1_19884257_ChIP-Seq_MESCs_Mouse0.78950426
163E2F1_18555785_Chip-Seq_ESCs_Mouse0.78719112
164SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.77954166
165POU3F2_20337985_ChIP-ChIP_501MEL_Human0.77812805
166SMAD3_21741376_ChIP-Seq_EPCs_Human0.77408824
167KLF4_18555785_ChIP-Seq_MESCs_Mouse0.77198693
168TBL1_22424771_ChIP-Seq_293T_Human0.77193022
169CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.76202701
170* LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.75870489
171CMYC_18555785_Chip-Seq_ESCs_Mouse0.75817571
172P300_18555785_Chip-Seq_ESCs_Mouse0.75773267
173SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.75753486
174NFYB_21822215_ChIP-Seq_K562_Human0.75473914
175* RNF2_27304074_Chip-Seq_ESCs_Mouse0.75356617
176* EWS_26573619_Chip-Seq_HEK293_Human0.75025146
177EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.74931261
178ESR1_15608294_ChIP-ChIP_MCF-7_Human0.74499236
179CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.74462041
180DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.74339966
181ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.72181943
182SOX2_18692474_ChIP-Seq_MEFs_Mouse0.68635008

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005410_abnormal_fertilization6.64906423
2MP0003136_yellow_coat_color5.91512813
3MP0005171_absent_coat_pigmentation3.42060434
4MP0010030_abnormal_orbit_morphology3.11781359
5MP0000015_abnormal_ear_pigmentation2.94615730
6MP0008877_abnormal_DNA_methylation2.83320795
7MP0005075_abnormal_melanosome_morpholog2.83315505
8MP0003698_abnormal_male_reproductive2.81091772
9* MP0009250_abnormal_appendicular_skeleto2.66401766
10MP0001929_abnormal_gametogenesis2.63591495
11MP0002095_abnormal_skin_pigmentation2.60833211
12MP0009053_abnormal_anal_canal2.59435959
13* MP0003385_abnormal_body_wall2.55445072
14MP0004957_abnormal_blastocyst_morpholog2.54025146
15MP0003942_abnormal_urinary_system2.52230390
16MP0002282_abnormal_trachea_morphology2.47875233
17MP0003123_paternal_imprinting2.32870786
18MP0002653_abnormal_ependyma_morphology2.30048202
19MP0003122_maternal_imprinting2.28990308
20MP0001293_anophthalmia2.27876686
21MP0002938_white_spotting2.23039524
22MP0000534_abnormal_ureter_morphology2.22549452
23MP0000049_abnormal_middle_ear2.15023432
24MP0004381_abnormal_hair_follicle2.13644419
25MP0003121_genomic_imprinting2.13536150
26MP0000372_irregular_coat_pigmentation2.12851812
27MP0002210_abnormal_sex_determination2.12663658
28MP0005174_abnormal_tail_pigmentation2.07830966
29MP0002249_abnormal_larynx_morphology2.00606434
30MP0005503_abnormal_tendon_morphology1.98809777
31MP0003937_abnormal_limbs/digits/tail_de1.96854140
32MP0002877_abnormal_melanocyte_morpholog1.94841642
33MP0005623_abnormal_meninges_morphology1.86375652
34* MP0003935_abnormal_craniofacial_develop1.85204704
35MP0005248_abnormal_Harderian_gland1.82497565
36MP0000537_abnormal_urethra_morphology1.78256344
37MP0000733_abnormal_muscle_development1.77636002
38MP0002932_abnormal_joint_morphology1.77234884
39MP0001145_abnormal_male_reproductive1.76084084
40* MP0002233_abnormal_nose_morphology1.75653712
41MP0000762_abnormal_tongue_morphology1.75504925
42MP0003693_abnormal_embryo_hatching1.71663897
43* MP0003755_abnormal_palate_morphology1.70532972
44* MP0000432_abnormal_head_morphology1.65872405
45MP0002075_abnormal_coat/hair_pigmentati1.58618481
46MP0005257_abnormal_intraocular_pressure1.57654659
47MP0003705_abnormal_hypodermis_morpholog1.57628895
48MP0002161_abnormal_fertility/fecundity1.54784208
49MP0010094_abnormal_chromosome_stability1.53614281
50MP0004233_abnormal_muscle_weight1.53352565
51* MP0002116_abnormal_craniofacial_bone1.53074054
52MP0000653_abnormal_sex_gland1.52353470
53MP0003186_abnormal_redox_activity1.47447939
54* MP0002109_abnormal_limb_morphology1.44626104
55MP0001186_pigmentation_phenotype1.44481898
56MP0005197_abnormal_uvea_morphology1.39982778
57MP0000569_abnormal_digit_pigmentation1.39589789
58MP0000428_abnormal_craniofacial_morphol1.38695144
59MP0003115_abnormal_respiratory_system1.36161582
60MP0001299_abnormal_eye_distance/1.35649480
61MP0002751_abnormal_autonomic_nervous1.30641707
62MP0009379_abnormal_foot_pigmentation1.30350040
63MP0002102_abnormal_ear_morphology1.27780429
64MP0003938_abnormal_ear_development1.27650752
65MP0002090_abnormal_vision1.25221386
66MP0003567_abnormal_fetal_cardiomyocyte1.25173473
67MP0000566_synostosis1.25060189
68MP0002177_abnormal_outer_ear1.22387285
69MP0002160_abnormal_reproductive_system1.21976463
70MP0008057_abnormal_DNA_replication1.21761047
71MP0009703_decreased_birth_body1.21190090
72MP0003718_maternal_effect1.20277957
73MP0001270_distended_abdomen1.19398072
74MP0002092_abnormal_eye_morphology1.16421618
75MP0002084_abnormal_developmental_patter1.16404954
76MP0005408_hypopigmentation1.16305017
77MP0003111_abnormal_nucleus_morphology1.10146316
78* MP0002085_abnormal_embryonic_tissue1.09882839
79* MP0002115_abnormal_skeleton_extremities1.09531184
80MP0003806_abnormal_nucleotide_metabolis1.08303601
81* MP0000163_abnormal_cartilage_morphology1.06251252
82MP0003077_abnormal_cell_cycle1.05402747
83MP0002111_abnormal_tail_morphology1.05073522
84MP0006054_spinal_hemorrhage1.04877835
85MP0002638_abnormal_pupillary_reflex1.04588591
86* MP0002114_abnormal_axial_skeleton1.01532569
87MP0001324_abnormal_eye_pigmentation1.00197134
88MP0000350_abnormal_cell_proliferation1.00166311
89MP0008007_abnormal_cellular_replicative1.00065756
90MP0004197_abnormal_fetal_growth/weight/0.99906882
91MP0008438_abnormal_cutaneous_collagen0.99666956
92MP0002113_abnormal_skeleton_development0.98990748
93MP0001730_embryonic_growth_arrest0.95439735
94MP0005508_abnormal_skeleton_morphology0.94433658
95MP0008932_abnormal_embryonic_tissue0.94406368
96MP0009697_abnormal_copulation0.92927549
97MP0001849_ear_inflammation0.92831077
98MP0004134_abnormal_chest_morphology0.92386002
99MP0008058_abnormal_DNA_repair0.91880868
100MP0001529_abnormal_vocalization0.91845721
101MP0002163_abnormal_gland_morphology0.89986859
102MP0005377_hearing/vestibular/ear_phenot0.86967286
103MP0003878_abnormal_ear_physiology0.86967286
104MP0002837_dystrophic_cardiac_calcinosis0.86857895
105MP0001346_abnormal_lacrimal_gland0.85670388
106MP0003119_abnormal_digestive_system0.82528183
107MP0005253_abnormal_eye_physiology0.82488342
108MP0006036_abnormal_mitochondrial_physio0.82333761
109MP0009672_abnormal_birth_weight0.82289819
110MP0005391_vision/eye_phenotype0.81952887
111MP0000678_abnormal_parathyroid_gland0.81894605
112MP0003646_muscle_fatigue0.81345868
113MP0001697_abnormal_embryo_size0.80939393
114MP0005187_abnormal_penis_morphology0.80310083
115MP0008260_abnormal_autophagy0.79948188
116MP0005670_abnormal_white_adipose0.79419216
117* MP0001340_abnormal_eyelid_morphology0.79101091
118MP0000613_abnormal_salivary_gland0.78674459
119MP0003880_abnormal_central_pattern0.78511523
120MP0006035_abnormal_mitochondrial_morpho0.78050526
121* MP0003861_abnormal_nervous_system0.77855836
122MP0002234_abnormal_pharynx_morphology0.75898109
123MP0008789_abnormal_olfactory_epithelium0.75757275
124MP0001286_abnormal_eye_development0.75025689
125MP0002080_prenatal_lethality0.74451502
126MP0003890_abnormal_embryonic-extraembry0.73699052
127MP0005380_embryogenesis_phenotype0.73331127
128MP0001672_abnormal_embryogenesis/_devel0.73331127
129MP0000749_muscle_degeneration0.72964859
130MP0002697_abnormal_eye_size0.72900800
131MP0000358_abnormal_cell_content/0.72876559
132MP0004272_abnormal_basement_membrane0.72443334
133MP0005499_abnormal_olfactory_system0.72114908
134MP0005394_taste/olfaction_phenotype0.72114908
135MP0002822_catalepsy0.71707758
136MP0005275_abnormal_skin_tensile0.71580181
137MP0002896_abnormal_bone_mineralization0.71070706
138MP0000371_diluted_coat_color0.71053724
139MP0005193_abnormal_anterior_eye0.70970101
140MP0002088_abnormal_embryonic_growth/wei0.69583695
141MP0003786_premature_aging0.68898433
142MP0000647_abnormal_sebaceous_gland0.67317852
143MP0004858_abnormal_nervous_system0.66128507
144MP0003984_embryonic_growth_retardation0.64763500
145MP0003315_abnormal_perineum_morphology0.62959086
146MP0005409_darkened_coat_color0.62250695
147MP0000516_abnormal_urinary_system0.59771937
148MP0005367_renal/urinary_system_phenotyp0.59771937

Predicted human phenotypes

RankGene SetZ-score
1Respiratory insufficiency due to defective ciliary clearance (HP:0200073)7.91622004
2Absent/shortened dynein arms (HP:0200106)6.94545208
3Dynein arm defect of respiratory motile cilia (HP:0012255)6.94545208
4Short 4th metacarpal (HP:0010044)5.39097721
5Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)5.39097721
6Abnormal respiratory motile cilium physiology (HP:0012261)5.15185908
7Abnormal respiratory motile cilium morphology (HP:0005938)4.74079158
8Abnormal respiratory epithelium morphology (HP:0012253)4.74079158
9Hypoplasia of the fovea (HP:0007750)4.65531588
10Aplasia/Hypoplasia of the fovea (HP:0008060)4.65531588
11Rhinitis (HP:0012384)4.29587382
12Abnormal ciliary motility (HP:0012262)3.88217401
13Abnormality of the fovea (HP:0000493)3.87733833
14Chronic bronchitis (HP:0004469)3.86988702
15Abnormality of the 4th metacarpal (HP:0010012)3.84848381
16Microglossia (HP:0000171)3.77419529
17Abnormality of the parietal bone (HP:0002696)3.68051083
18Acute necrotizing encephalopathy (HP:0006965)3.62757795
19Blue irides (HP:0000635)3.45467291
20Abnormality of glycolysis (HP:0004366)3.44565347
21Renal duplication (HP:0000075)3.39589041
22Infertility (HP:0000789)3.31218991
23Abnormal mitochondria in muscle tissue (HP:0008316)3.27128847
24Midline defect of the nose (HP:0004122)3.24517240
25Abnormality of the phalanges of the hallux (HP:0010057)3.15053528
26Increased serum pyruvate (HP:0003542)3.13194287
27Premature graying of hair (HP:0002216)3.12213729
28Acute encephalopathy (HP:0006846)3.11659551
29Reticulocytopenia (HP:0001896)3.10671202
30Abnormality of the anterior horn cell (HP:0006802)3.01990967
31Degeneration of anterior horn cells (HP:0002398)3.01990967
32Nephronophthisis (HP:0000090)3.00853116
33Ocular albinism (HP:0001107)2.92378962
34Progressive macrocephaly (HP:0004481)2.86746210
35Mitochondrial inheritance (HP:0001427)2.84768906
36Aplasia/Hypoplasia of the sacrum (HP:0008517)2.84107346
37Increased CSF lactate (HP:0002490)2.83779446
38Mesomelia (HP:0003027)2.83267031
39Abnormal auditory evoked potentials (HP:0006958)2.80104942
40Iris hypopigmentation (HP:0007730)2.79832042
41Cutaneous melanoma (HP:0012056)2.76851054
42Nasal polyposis (HP:0100582)2.73558175
43Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)2.70966898
44Macrocytic anemia (HP:0001972)2.68209883
45Hypopigmentation of the fundus (HP:0007894)2.65710709
46Abnormal number of erythroid precursors (HP:0012131)2.64005706
47Cutaneous finger syndactyly (HP:0010554)2.63887721
48Hypoplastic labia majora (HP:0000059)2.63669878
49Abnormality of cells of the erythroid lineage (HP:0012130)2.61944762
50Hepatocellular necrosis (HP:0001404)2.57480683
51Short middle phalanx of the 5th finger (HP:0004220)2.55904913
52* Facial cleft (HP:0002006)2.54917198
53Shallow orbits (HP:0000586)2.53988757
54Microvesicular hepatic steatosis (HP:0001414)2.52762046
55Leukodystrophy (HP:0002415)2.50169830
56Cerebral hypomyelination (HP:0006808)2.47789420
57Urethral obstruction (HP:0000796)2.47344885
58Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)2.46640241
59Short 1st metacarpal (HP:0010034)2.46640241
603-Methylglutaconic aciduria (HP:0003535)2.43561755
61Broad toe (HP:0001837)2.41928417
62Cerebral edema (HP:0002181)2.41634625
63Supernumerary ribs (HP:0005815)2.40066282
64Coronal craniosynostosis (HP:0004440)2.37973264
65Hepatic necrosis (HP:0002605)2.37851326
66Abnormality of the renal medulla (HP:0100957)2.37189454
67Abnormality of the labia majora (HP:0012881)2.35349492
68Type I transferrin isoform profile (HP:0003642)2.35323943
69Absent frontal sinuses (HP:0002688)2.34298487
70Abnormality of dentin (HP:0010299)2.30278942
71Selective tooth agenesis (HP:0001592)2.29049606
72Birth length less than 3rd percentile (HP:0003561)2.26699843
73Abnormality of the frontal sinuses (HP:0002687)2.25713796
74Heterochromia iridis (HP:0001100)2.24527245
75Meckel diverticulum (HP:0002245)2.22065249
76Cutaneous syndactyly (HP:0012725)2.19616326
77Generalized hypopigmentation (HP:0007513)2.19614249
78Bifid tongue (HP:0010297)2.16041822
79Bell-shaped thorax (HP:0001591)2.15868182
80Abnormality of the phalanges of the 2nd finger (HP:0009541)2.15004875
81Aplasia/Hypoplasia of the uvula (HP:0010293)2.14966110
82Fibular hypoplasia (HP:0003038)2.14785442
83Reduced antithrombin III activity (HP:0001976)2.14753894
84Bronchiectasis (HP:0002110)2.14491099
85Increased serum lactate (HP:0002151)2.14315496
86Increased hepatocellular lipid droplets (HP:0006565)2.12952929
87Abnormality of the ileum (HP:0001549)2.12220512
88Wide cranial sutures (HP:0010537)2.11143334
89Short ribs (HP:0000773)2.10265173
90Vitreoretinal degeneration (HP:0000655)2.10202219
91Rhabdomyosarcoma (HP:0002859)2.10175500
92Abnormality of the nasal mucosa (HP:0000433)2.10149230
93Hypoplasia of the iris (HP:0007676)2.09832468
94Supernumerary bones of the axial skeleton (HP:0009144)2.09646433
95Abnormality of the 1st metacarpal (HP:0010009)2.09028729
96Abnormal lung lobation (HP:0002101)2.08571976
97Renal dysplasia (HP:0000110)2.08483680
98Septate vagina (HP:0001153)2.07725228
99Respiratory failure (HP:0002878)2.06971863
100Congenital sensorineural hearing impairment (HP:0008527)2.06724771
101Atresia of the external auditory canal (HP:0000413)2.06344123
102Male infertility (HP:0003251)2.05083192
103Aplasia/Hypoplasia involving the sinuses (HP:0009120)2.04834821
104Buphthalmos (HP:0000557)2.04094076
105Bronchitis (HP:0012387)2.01381837
106Chromosomal breakage induced by crosslinking agents (HP:0003221)2.00120594
107White forelock (HP:0002211)1.99845432
108Abnormal number of incisors (HP:0011064)1.98485475
109Increased nuchal translucency (HP:0010880)1.98443515
110Turricephaly (HP:0000262)1.95642316
111Renovascular hypertension (HP:0100817)1.95518516
112Abnormality of chromosome stability (HP:0003220)1.94204934
113Albinism (HP:0001022)1.93752935
114Tubular atrophy (HP:0000092)1.93174195
115Wide anterior fontanel (HP:0000260)1.92450852
116Poor head control (HP:0002421)1.91355380
117Syringomyelia (HP:0003396)1.89482680
118Spinal cord lesions (HP:0100561)1.89482680
119Aplasia/Hypoplasia of the tongue (HP:0010295)1.88975272
120Hypoplasia of the maxilla (HP:0000327)1.88856007
121Proximal placement of thumb (HP:0009623)1.88586683
122Short thumb (HP:0009778)1.87702277
123Molar tooth sign on MRI (HP:0002419)1.86237707
124Abnormality of midbrain morphology (HP:0002418)1.86237707
125Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.86154168
126Abnormal protein N-linked glycosylation (HP:0012347)1.86154168
127Abnormal protein glycosylation (HP:0012346)1.86154168
128Abnormal glycosylation (HP:0012345)1.86154168
129Protrusio acetabuli (HP:0003179)1.85867787
130Abnormal tarsal ossification (HP:0008369)1.85440830
131Abnormality of the preputium (HP:0100587)1.85306737
132Narrow palate (HP:0000189)1.84914333
133Abnormality of abdominal situs (HP:0011620)1.82866998
134Abdominal situs inversus (HP:0003363)1.82866998
135Increased number of teeth (HP:0011069)1.82759309
136Exercise intolerance (HP:0003546)1.82139580
137Short tibia (HP:0005736)1.81261815
138Neoplasm of striated muscle (HP:0009728)1.78038433
139Rhizomelia (HP:0008905)1.77948716
140Lactic acidosis (HP:0003128)1.77442198
141Lipid accumulation in hepatocytes (HP:0006561)1.76625287
142Abnormality of the 2nd finger (HP:0004100)1.76125983
143Broad thumb (HP:0011304)1.75781534
144Trigonocephaly (HP:0000243)1.75261244
145Chromsome breakage (HP:0040012)1.74712861
146Lymphangioma (HP:0100764)1.73360808
147Abnormality of the fetal cardiovascular system (HP:0010948)1.72937367
148Abnormal umbilical cord blood vessels (HP:0011403)1.72937367
149Single umbilical artery (HP:0001195)1.72937367
150Colon cancer (HP:0003003)1.72754647
151Papillary thyroid carcinoma (HP:0002895)1.70567754
152Breast carcinoma (HP:0003002)1.70151657
153Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)1.69386181
154Abnormality of the nasolacrimal system (HP:0000614)1.69079016
155Renal Fanconi syndrome (HP:0001994)1.69066052
156Broad long bones (HP:0005622)1.69058484
157Anophthalmia (HP:0000528)1.69031968
158Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.68966168
159Decreased activity of mitochondrial respiratory chain (HP:0008972)1.68966168
160Duodenal stenosis (HP:0100867)1.68773173
161Small intestinal stenosis (HP:0012848)1.68773173
162Impulsivity (HP:0100710)1.68537437
163Broad phalanges of the hand (HP:0009768)1.67343404
164Broad phalanx (HP:0006009)1.66827520
165Aplasia/Hypoplasia of the macula (HP:0008059)1.65020445
166Patchy hypopigmentation of hair (HP:0011365)1.65013447
167Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.64715764
168CNS hypomyelination (HP:0003429)1.63818914
169Broad finger (HP:0001500)1.63460180
170Anal atresia (HP:0002023)1.63216352
171Hydroureter (HP:0000072)1.62957639
172Nephroblastoma (Wilms tumor) (HP:0002667)1.62468491
173Deviation of the thumb (HP:0009603)1.62287206
174Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.61951779
175Absent epiphyses (HP:0010577)1.61951779
176Postaxial foot polydactyly (HP:0001830)1.60758841
177Abnormality of the right ventricle (HP:0001707)1.60338955
178Tubulointerstitial nephritis (HP:0001970)1.60241848
179Occipital encephalocele (HP:0002085)1.59828014
180Aplasia/Hypoplasia affecting the retina (HP:0008061)1.59677848
181Abnormality of methionine metabolism (HP:0010901)1.59356697
182Triphalangeal thumb (HP:0001199)1.59006030
183Hallux valgus (HP:0001822)1.58202922
184Tracheomalacia (HP:0002779)1.58166642
185Bilateral microphthalmos (HP:0007633)1.57990640
186Supernumerary spleens (HP:0009799)1.57856772
187Intellectual disability, moderate (HP:0002342)1.57645091
188Deviation of the hallux (HP:0010051)1.57397634

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDK45.36395389
2PDK35.36395389
3TESK13.73908261
4STK163.62219263
5PRKD33.56957925
6DDR23.10111841
7PDK23.07626454
8NME23.04255715
9ICK2.99052437
10CDC72.96858994
11TRIM282.90842554
12LATS12.59411027
13VRK22.36724169
14NEK22.26090296
15EIF2AK12.20792936
16MKNK12.08501986
17CDK122.06316298
18TTK1.95621549
19BCR1.85261430
20STK31.81425445
21PTK2B1.80003378
22EPHB21.67543539
23WNK41.67107737
24MST1R1.66137303
25PDGFRA1.62931505
26LATS21.57019135
27ZAK1.52373709
28WEE11.51984690
29VRK11.47271209
30CAMK1G1.46210498
31PASK1.45725178
32PNCK1.44848224
33STK38L1.44594714
34NME11.41761595
35CHEK21.34725786
36MAP3K101.31330843
37BCKDK1.27399530
38STK381.26766106
39STK391.26411858
40EIF2AK31.20926383
41RPS6KA41.16083744
42WNK11.15269667
43CSNK1G31.13976512
44PLK41.12477480
45ATR1.11629515
46CCNB11.09223552
47WNK31.04786389
48CSNK1G11.03970206
49TAF11.02470206
50MKNK21.00697294
51PAK40.98994762
52TYRO30.98979187
53CHEK10.98886730
54CAMK1D0.96476680
55MET0.96453561
56DYRK1B0.96246195
57CSNK1G20.93562958
58ERBB30.88972687
59PLK10.88879984
60BMPR1B0.88425834
61EPHA30.86874184
62ATM0.85173513
63MTOR0.83905656
64TIE10.83182702
65FGFR10.83060326
66SIK30.82775860
67EEF2K0.82186864
68PAK20.81699949
69PDGFRB0.80542929
70BUB10.80341482
71CDK60.79539111
72PLK30.79375059
73TSSK60.79123252
74STK40.77993528
75CDK70.76144492
76BMX0.75249051
77SRPK10.73277434
78PTK60.72564773
79KDR0.69647856
80TRIB30.69020719
81MARK30.68901745
82BRSK20.68150808
83TTN0.67243323
84NUAK10.65358136
85MINK10.65195217
86ILK0.62445062
87AURKA0.61072554
88MAP2K70.59650421
89CSNK2A20.59517372
90TESK20.59316474
91ERBB40.58709565
92PIM20.55683340
93CDK180.55271041
94LRRK20.54580358
95DYRK30.52654019
96CDK10.52284760
97ABL20.49907400
98NEK90.49127855
99ACVR1B0.46789142
100CDK20.46752655
101RIPK10.46350687
102PLK20.45870587
103BRD40.45782512
104CDK150.45545287
105CDK140.45447006
106DYRK20.44940770
107AKT20.44647031
108CDK190.44504586
109ERBB20.44252760
110CDK11A0.44114968
111LIMK10.44007021
112CDK40.43949699
113TGFBR10.43729127
114INSRR0.42429914
115AURKB0.42319335
116GRK10.41044092
117FLT30.40909035
118MAP3K40.40549909
119BRAF0.39999783
120MAP3K80.39151262
121MAP4K20.38713017
122CSNK1A1L0.36682497
123ARAF0.33573242
124MAPK80.33464067
125OXSR10.32713623
126DMPK0.32686426
127CDK30.32577042
128PDK10.32236927
129CLK10.30714915
130EPHA40.29743582
131MAPKAPK50.29607534
132PKN20.29373451
133GSK3A0.29238528
134GSK3B0.28693839
135IRAK10.28103022
136PTK20.26620036
137BRSK10.25885121
138CSNK1E0.25727489
139CSNK1D0.25616457
140PBK0.25303694
141MAPK10.25114598
142FER0.25010511
143CSNK2A10.24914314
144MAPK140.24877308
145PRKDC0.24870110
146CDK80.23202450
147FGFR20.23002358
148LMTK20.22043532
149NEK10.21645601
150YES10.21573562
151PAK10.21422928
152AKT10.20991297

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030104.21521698
2Proteasome_Homo sapiens_hsa030503.75472338
3Basal cell carcinoma_Homo sapiens_hsa052173.66586941
4Hedgehog signaling pathway_Homo sapiens_hsa043403.38420283
5Oxidative phosphorylation_Homo sapiens_hsa001903.25374709
6RNA polymerase_Homo sapiens_hsa030202.95786138
7Parkinsons disease_Homo sapiens_hsa050122.92724632
8Cell cycle_Homo sapiens_hsa041102.88968277
9Fanconi anemia pathway_Homo sapiens_hsa034602.56327366
10RNA transport_Homo sapiens_hsa030132.52843217
11Glycosaminoglycan degradation_Homo sapiens_hsa005312.47654049
12Oocyte meiosis_Homo sapiens_hsa041142.34431427
13Basal transcription factors_Homo sapiens_hsa030222.33740878
14Protein export_Homo sapiens_hsa030602.30823576
15Glycolysis / Gluconeogenesis_Homo sapiens_hsa000102.27051040
16Hippo signaling pathway_Homo sapiens_hsa043902.24111461
17mRNA surveillance pathway_Homo sapiens_hsa030152.02280420
18Ubiquitin mediated proteolysis_Homo sapiens_hsa041202.02167514
19One carbon pool by folate_Homo sapiens_hsa006701.99163723
20Selenocompound metabolism_Homo sapiens_hsa004501.96377249
21Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.92353344
22Wnt signaling pathway_Homo sapiens_hsa043101.91933790
23Alzheimers disease_Homo sapiens_hsa050101.90346500
24Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.81908300
25Spliceosome_Homo sapiens_hsa030401.81674740
26Adherens junction_Homo sapiens_hsa045201.76455877
27Glucagon signaling pathway_Homo sapiens_hsa049221.75764777
28Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.64930820
29Renin-angiotensin system_Homo sapiens_hsa046141.63495979
30Pyruvate metabolism_Homo sapiens_hsa006201.60292823
31Melanogenesis_Homo sapiens_hsa049161.55934242
32TGF-beta signaling pathway_Homo sapiens_hsa043501.55340416
33Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.55105207
34Homologous recombination_Homo sapiens_hsa034401.53078403
35Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.49392616
36DNA replication_Homo sapiens_hsa030301.46204071
37MicroRNAs in cancer_Homo sapiens_hsa052061.43400411
38Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.42708329
39Dorso-ventral axis formation_Homo sapiens_hsa043201.41974757
40Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.41899261
41Vitamin B6 metabolism_Homo sapiens_hsa007501.39649853
42Propanoate metabolism_Homo sapiens_hsa006401.34109985
43ECM-receptor interaction_Homo sapiens_hsa045121.33659992
44HTLV-I infection_Homo sapiens_hsa051661.32994064
45Proteoglycans in cancer_Homo sapiens_hsa052051.27863889
46Folate biosynthesis_Homo sapiens_hsa007901.25184763
472-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.24140705
48Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.23835122
49p53 signaling pathway_Homo sapiens_hsa041151.21827694
50RNA degradation_Homo sapiens_hsa030181.21083663
51Fatty acid biosynthesis_Homo sapiens_hsa000611.19139120
52Axon guidance_Homo sapiens_hsa043601.18377438
53Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.16902778
54Lysine degradation_Homo sapiens_hsa003101.12360691
55Tyrosine metabolism_Homo sapiens_hsa003501.12210845
56Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.11664314
57alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.11648595
58Linoleic acid metabolism_Homo sapiens_hsa005911.11453821
59Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.09118605
60Prostate cancer_Homo sapiens_hsa052151.08407427
61Protein digestion and absorption_Homo sapiens_hsa049741.07082854
62Small cell lung cancer_Homo sapiens_hsa052221.05976583
63Cardiac muscle contraction_Homo sapiens_hsa042601.05104852
64Sulfur relay system_Homo sapiens_hsa041221.01569190
65Mismatch repair_Homo sapiens_hsa034300.98854852
66Focal adhesion_Homo sapiens_hsa045100.97891579
67Systemic lupus erythematosus_Homo sapiens_hsa053220.96492177
68Fatty acid elongation_Homo sapiens_hsa000620.95490306
69Transcriptional misregulation in cancer_Homo sapiens_hsa052020.94961357
70Pentose phosphate pathway_Homo sapiens_hsa000300.93797746
71Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.93535627
72Base excision repair_Homo sapiens_hsa034100.93182684
73Central carbon metabolism in cancer_Homo sapiens_hsa052300.92631662
74Pathways in cancer_Homo sapiens_hsa052000.91644685
75Non-homologous end-joining_Homo sapiens_hsa034500.91162639
76Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.90283307
77Viral carcinogenesis_Homo sapiens_hsa052030.87368115
78Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.83731577
79Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.82793629
80Glutathione metabolism_Homo sapiens_hsa004800.82606315
81Estrogen signaling pathway_Homo sapiens_hsa049150.82283400
82Thyroid hormone signaling pathway_Homo sapiens_hsa049190.79848220
83Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.79101249
84Metabolic pathways_Homo sapiens_hsa011000.76923309
85Tight junction_Homo sapiens_hsa045300.76860883
86Renin secretion_Homo sapiens_hsa049240.74271198
87Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.71218936
88Carbohydrate digestion and absorption_Homo sapiens_hsa049730.68849125
89cGMP-PKG signaling pathway_Homo sapiens_hsa040220.67374515
90N-Glycan biosynthesis_Homo sapiens_hsa005100.67250978
91Colorectal cancer_Homo sapiens_hsa052100.64504159
92Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.64498936
93Viral myocarditis_Homo sapiens_hsa054160.62526596
94Chronic myeloid leukemia_Homo sapiens_hsa052200.62440557
95Regulation of autophagy_Homo sapiens_hsa041400.61944005
96Mineral absorption_Homo sapiens_hsa049780.61894836
97Melanoma_Homo sapiens_hsa052180.61093171
98Nucleotide excision repair_Homo sapiens_hsa034200.58048072
99Herpes simplex infection_Homo sapiens_hsa051680.55148445
100Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.53996987
101PI3K-Akt signaling pathway_Homo sapiens_hsa041510.53646164
102Collecting duct acid secretion_Homo sapiens_hsa049660.52864024
103Fructose and mannose metabolism_Homo sapiens_hsa000510.52764515
104Steroid biosynthesis_Homo sapiens_hsa001000.52041082
105Epstein-Barr virus infection_Homo sapiens_hsa051690.50900588
106Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.49571428
107Renal cell carcinoma_Homo sapiens_hsa052110.48917468
108Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.48768587
109Ether lipid metabolism_Homo sapiens_hsa005650.48692817
110Galactose metabolism_Homo sapiens_hsa000520.48152818
111Purine metabolism_Homo sapiens_hsa002300.48064586
112Drug metabolism - other enzymes_Homo sapiens_hsa009830.47984180
113Biosynthesis of amino acids_Homo sapiens_hsa012300.46801134
114Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.46456738
115Peroxisome_Homo sapiens_hsa041460.46448403
116Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.46331131
117Cysteine and methionine metabolism_Homo sapiens_hsa002700.45498123
118Cyanoamino acid metabolism_Homo sapiens_hsa004600.45396244
119Thyroid cancer_Homo sapiens_hsa052160.44494871
120Amphetamine addiction_Homo sapiens_hsa050310.44032284
121Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.43311765
122Notch signaling pathway_Homo sapiens_hsa043300.42662150
123Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.41036844
124Thyroid hormone synthesis_Homo sapiens_hsa049180.40529382
125Carbon metabolism_Homo sapiens_hsa012000.40315113
126Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.40039731
127Alcoholism_Homo sapiens_hsa050340.40014673
128Vibrio cholerae infection_Homo sapiens_hsa051100.39856949
129Antigen processing and presentation_Homo sapiens_hsa046120.39187898
130Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.38903095
131VEGF signaling pathway_Homo sapiens_hsa043700.38864623
132Rap1 signaling pathway_Homo sapiens_hsa040150.37648879
133Endometrial cancer_Homo sapiens_hsa052130.36688312
134Glioma_Homo sapiens_hsa052140.36656581
135AMPK signaling pathway_Homo sapiens_hsa041520.35207583
136Bladder cancer_Homo sapiens_hsa052190.35187749
137Huntingtons disease_Homo sapiens_hsa050160.34910575
138Pyrimidine metabolism_Homo sapiens_hsa002400.34846067
139Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.33336260
140Arginine and proline metabolism_Homo sapiens_hsa003300.30205091
141Pentose and glucuronate interconversions_Homo sapiens_hsa000400.26641642
142Fatty acid metabolism_Homo sapiens_hsa012120.20655379
143Sphingolipid metabolism_Homo sapiens_hsa006000.15588028
144Sulfur metabolism_Homo sapiens_hsa009200.15469972
145Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.14886628
146Other glycan degradation_Homo sapiens_hsa005110.13260324
147beta-Alanine metabolism_Homo sapiens_hsa004100.10652909
148Fat digestion and absorption_Homo sapiens_hsa049750.09032759
149Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.08544847
150Synaptic vesicle cycle_Homo sapiens_hsa047210.07563127
151Phenylalanine metabolism_Homo sapiens_hsa003600.03970789

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