SLC47A2

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: This gene encodes a protein belonging to a family of transporters involved in excretion of toxic electrolytes, both endogenous and exogenous, through urine and bile. This transporter family shares homology with the bacterial MATE (multidrug and toxin extrusion) protein family responsible for drug resistance. This gene is one of two members of the MATE transporter family located near each other on chromosome 17. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptonemal complex organization (GO:0070193)9.94954153
2cilium or flagellum-dependent cell motility (GO:0001539)9.94041954
3synaptonemal complex assembly (GO:0007130)9.86470259
4DNA methylation involved in gamete generation (GO:0043046)8.91983481
5plasma membrane fusion (GO:0045026)8.72656366
6regulation of meiosis I (GO:0060631)8.44287455
7sperm motility (GO:0030317)8.17654578
8spermatid development (GO:0007286)7.53911875
9axonemal dynein complex assembly (GO:0070286)7.53873917
10male meiosis I (GO:0007141)7.51601066
11sperm-egg recognition (GO:0035036)7.22672470
12gonadal mesoderm development (GO:0007506)6.95291524
13acrosome reaction (GO:0007340)6.94465474
14binding of sperm to zona pellucida (GO:0007339)6.88860639
15multicellular organism reproduction (GO:0032504)6.80141298
16chromosome organization involved in meiosis (GO:0070192)6.66288994
17acrosome assembly (GO:0001675)6.64955227
18motile cilium assembly (GO:0044458)6.61449382
19meiotic nuclear division (GO:0007126)6.59995205
20epithelial cilium movement (GO:0003351)6.47310802
21cell-cell recognition (GO:0009988)6.39651875
22sex differentiation (GO:0007548)6.24613890
23meiosis I (GO:0007127)6.11605250
24positive regulation of male gonad development (GO:2000020)6.04056717
25sex determination (GO:0007530)5.94954582
26epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)5.85252114
27germ cell development (GO:0007281)5.51830628
28cilium movement (GO:0003341)5.50042245
29reproduction (GO:0000003)5.47595874
30regulation of cilium movement (GO:0003352)5.45013216
31gene silencing by RNA (GO:0031047)5.37652829
32spermatogenesis (GO:0007283)5.35455922
33male gamete generation (GO:0048232)5.33784043
34cellular process involved in reproduction in multicellular organism (GO:0022412)5.18862872
35meiotic cell cycle (GO:0051321)5.17442061
36regulation of male gonad development (GO:2000018)5.16689507
37gamete generation (GO:0007276)4.92876516
38cell wall macromolecule metabolic process (GO:0044036)4.87384971
39cell wall macromolecule catabolic process (GO:0016998)4.87384971
40seminiferous tubule development (GO:0072520)4.84427710
41fertilization (GO:0009566)4.81912530
42oocyte development (GO:0048599)4.77545890
43single fertilization (GO:0007338)4.73888907
44negative regulation of inclusion body assembly (GO:0090084)4.65843729
45platelet dense granule organization (GO:0060155)4.58231446
46meiotic cell cycle process (GO:1903046)4.36061059
47poly(A)+ mRNA export from nucleus (GO:0016973)4.25586270
48regulation of inclusion body assembly (GO:0090083)4.22249069
49male sex determination (GO:0030238)4.21450540
50response to pheromone (GO:0019236)4.19982415
51regulation of microtubule-based movement (GO:0060632)4.15709874
52sperm capacitation (GO:0048240)4.12741460
53detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)4.06745725
54behavioral response to nicotine (GO:0035095)4.06449915
55negative regulation of meiosis (GO:0045835)4.00731238
56genitalia morphogenesis (GO:0035112)3.96392346
57DNA methylation (GO:0006306)3.94640333
58DNA alkylation (GO:0006305)3.94640333
59multicellular organismal reproductive process (GO:0048609)3.88510067
60gene silencing (GO:0016458)3.88377225
61nuclear pore complex assembly (GO:0051292)3.83469310
62L-fucose catabolic process (GO:0042355)3.80484378
63fucose catabolic process (GO:0019317)3.80484378
64L-fucose metabolic process (GO:0042354)3.80484378
65preassembly of GPI anchor in ER membrane (GO:0016254)3.76083024
66microtubule depolymerization (GO:0007019)3.71381664
67positive regulation of meiosis (GO:0045836)3.68880545
68water-soluble vitamin biosynthetic process (GO:0042364)3.68160366
69ventricular system development (GO:0021591)3.62469814
70chaperone-mediated protein complex assembly (GO:0051131)3.61912494
71indolalkylamine metabolic process (GO:0006586)3.61191114
72protein K11-linked deubiquitination (GO:0035871)3.57897649
73regulation of gonadotropin secretion (GO:0032276)3.57621500
74detection of light stimulus involved in sensory perception (GO:0050962)3.57187746
75detection of light stimulus involved in visual perception (GO:0050908)3.57187746
76pyrimidine nucleobase catabolic process (GO:0006208)3.56317389
77macroautophagy (GO:0016236)3.52101236
78positive regulation of meiotic cell cycle (GO:0051446)3.49489682
79left/right pattern formation (GO:0060972)3.48667721
80axoneme assembly (GO:0035082)3.48598890
81indolalkylamine catabolic process (GO:0046218)3.45294710
82tryptophan catabolic process (GO:0006569)3.45294710
83indole-containing compound catabolic process (GO:0042436)3.45294710
84GPI anchor metabolic process (GO:0006505)3.44947590
85oogenesis (GO:0048477)3.43874668
86protein-cofactor linkage (GO:0018065)3.42059935
87DNA packaging (GO:0006323)3.39168598
88respiratory chain complex IV assembly (GO:0008535)3.36542350
89retinal cone cell development (GO:0046549)3.36449466
90regulation of protein polyubiquitination (GO:1902914)3.35792603
91synapsis (GO:0007129)3.35086396
92chromosome condensation (GO:0030261)3.32839570
93anatomical structure regression (GO:0060033)3.29514123
94regulation of histone H3-K9 methylation (GO:0051570)3.28914953
95nuclear pore organization (GO:0006999)3.28788443
96DNA deamination (GO:0045006)3.28267660
97negative regulation of organelle assembly (GO:1902116)3.22825881
98cellular ketone body metabolic process (GO:0046950)3.21848324
99organic cation transport (GO:0015695)3.19283712
100female gamete generation (GO:0007292)3.17389803
101protein localization to cilium (GO:0061512)3.15678824
102microtubule severing (GO:0051013)3.15639387
103tryptophan metabolic process (GO:0006568)3.14401293
104protein complex biogenesis (GO:0070271)3.13006531
105GPI anchor biosynthetic process (GO:0006506)3.11178228
106photoreceptor cell maintenance (GO:0045494)3.09996090
107nucleobase catabolic process (GO:0046113)3.09591281
108kynurenine metabolic process (GO:0070189)3.09380442
109C4-dicarboxylate transport (GO:0015740)3.08819848
110cilium morphogenesis (GO:0060271)3.06955448
111DNA replication-dependent nucleosome assembly (GO:0006335)3.05251521
112DNA replication-dependent nucleosome organization (GO:0034723)3.05251521
113establishment of protein localization to mitochondrial membrane (GO:0090151)3.04616919
114mannosylation (GO:0097502)3.03228874
115L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.01862554
116negative regulation of DNA repair (GO:0045738)3.00436036
117monoubiquitinated protein deubiquitination (GO:0035520)2.99997884
118ketone body metabolic process (GO:1902224)2.99118435
119gamma-aminobutyric acid transport (GO:0015812)2.98772478
120translesion synthesis (GO:0019985)2.98336972
121peptidyl-histidine modification (GO:0018202)2.98302465
122S-adenosylmethionine metabolic process (GO:0046500)2.94996804
123cytochrome complex assembly (GO:0017004)2.94534959
124amino acid salvage (GO:0043102)2.94055413
125L-methionine salvage (GO:0071267)2.94055413
126L-methionine biosynthetic process (GO:0071265)2.94055413
127mitochondrial respiratory chain complex I assembly (GO:0032981)2.91590626
128NADH dehydrogenase complex assembly (GO:0010257)2.91590626
129mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.91590626
130sister chromatid cohesion (GO:0007062)2.91564553
131pore complex assembly (GO:0046931)2.91063374
132thyroid hormone metabolic process (GO:0042403)2.90741499
133multicellular organismal development (GO:0007275)2.89776017
134glyoxylate metabolic process (GO:0046487)2.89276406
135DNA methylation or demethylation (GO:0044728)2.88269985
136mitochondrial respiratory chain complex assembly (GO:0033108)2.86575159
137cellular biogenic amine catabolic process (GO:0042402)2.85969316
138amine catabolic process (GO:0009310)2.85969316
139Leydig cell differentiation (GO:0033327)2.85657445
140regulation of female gonad development (GO:2000194)2.85391567
141cornea development in camera-type eye (GO:0061303)2.84399850
142heterochromatin organization (GO:0070828)2.84002860
143nonmotile primary cilium assembly (GO:0035058)2.83925671
144reciprocal meiotic recombination (GO:0007131)2.83803922
145reciprocal DNA recombination (GO:0035825)2.83803922
146regulation of neurotransmitter uptake (GO:0051580)2.83718763
147intraciliary transport (GO:0042073)2.83615068
148regulation of centriole replication (GO:0046599)2.83108774
149cell recognition (GO:0008037)2.82593816
150photoreceptor cell development (GO:0042461)2.82534264
151regulation of acrosome reaction (GO:0060046)2.82066705
152protein polyglutamylation (GO:0018095)2.81892122
153glycolipid biosynthetic process (GO:0009247)2.81880485
154auditory receptor cell stereocilium organization (GO:0060088)2.80935420
155reflex (GO:0060004)2.80065181
156anterograde synaptic vesicle transport (GO:0048490)2.79345617
157astrocyte development (GO:0014002)2.79066516
158rhodopsin mediated signaling pathway (GO:0016056)2.76876053
159negative regulation of cytosolic calcium ion concentration (GO:0051481)2.72882828
160C-terminal protein amino acid modification (GO:0018410)2.71922568
161behavioral response to ethanol (GO:0048149)2.69620320
162transepithelial transport (GO:0070633)2.68103392
163inner ear receptor stereocilium organization (GO:0060122)2.67742076
164glycosphingolipid biosynthetic process (GO:0006688)2.64979872
165inositol phosphate catabolic process (GO:0071545)2.63662725
166C-terminal protein lipidation (GO:0006501)2.63489169
167cilium organization (GO:0044782)2.63259866
168phosphatidylinositol acyl-chain remodeling (GO:0036149)2.60970962
169eye photoreceptor cell development (GO:0042462)2.60617846
170ubiquinone biosynthetic process (GO:0006744)2.59440774
171attachment of spindle microtubules to kinetochore (GO:0008608)2.58574027
172RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.57072909
173tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.57072909
174thyroid hormone generation (GO:0006590)2.56579940
175regulation of rhodopsin mediated signaling pathway (GO:0022400)2.56235012
176ubiquinone metabolic process (GO:0006743)2.54149714
177mitochondrial DNA replication (GO:0006264)2.53960903
178sulfation (GO:0051923)2.53483506
179retinal rod cell development (GO:0046548)2.53211518
180negative regulation of synaptic transmission, GABAergic (GO:0032229)2.52532673
181cilium assembly (GO:0042384)2.52480349
182methionine biosynthetic process (GO:0009086)2.48980219
183inositol phosphate dephosphorylation (GO:0046855)2.46942345
184phosphorylated carbohydrate dephosphorylation (GO:0046838)2.46942345
185cellular response to sterol (GO:0036315)2.45531791
186piRNA metabolic process (GO:0034587)13.6203625
187fusion of sperm to egg plasma membrane (GO:0007342)11.6445107
188male meiosis (GO:0007140)10.2628941

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1STAT6_21828071_ChIP-Seq_BEAS2B_Human5.71055817
2BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse4.18707883
3PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.97601053
4EZH2_22144423_ChIP-Seq_EOC_Human2.90384265
5GBX2_23144817_ChIP-Seq_PC3_Human2.85443736
6CREM_20920259_ChIP-Seq_GC1-SPG_Mouse2.77236528
7E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.71847142
8ZFP57_27257070_Chip-Seq_ESCs_Mouse2.67744586
9POU3F2_20337985_ChIP-ChIP_501MEL_Human2.56726914
10TAF15_26573619_Chip-Seq_HEK293_Human2.39749358
11FUS_26573619_Chip-Seq_HEK293_Human2.39616406
12VDR_22108803_ChIP-Seq_LS180_Human2.38788784
13GATA1_26923725_Chip-Seq_HPCs_Mouse2.37718429
14IGF1R_20145208_ChIP-Seq_DFB_Human2.37091165
15EWS_26573619_Chip-Seq_HEK293_Human2.31370916
16TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.26249465
17TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.21674257
18GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.10416365
19P300_19829295_ChIP-Seq_ESCs_Human2.08433034
20HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.04138259
21CTBP2_25329375_ChIP-Seq_LNCAP_Human2.01548807
22MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse11.6796439
23CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.92682691
24AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.85074336
25IKZF1_21737484_ChIP-ChIP_HCT116_Human1.80417467
26PCGF2_27294783_Chip-Seq_ESCs_Mouse1.78980131
27CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.78562429
28CTBP1_25329375_ChIP-Seq_LNCAP_Human1.78126892
29ELK4_26923725_Chip-Seq_MESODERM_Mouse1.76100143
30KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.75796564
31FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.75197787
32FOXM1_23109430_ChIP-Seq_U2OS_Human1.74364380
33EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.71949069
34GABP_17652178_ChIP-ChIP_JURKAT_Human1.68871417
35ER_23166858_ChIP-Seq_MCF-7_Human1.68602964
36TP53_22573176_ChIP-Seq_HFKS_Human1.68447734
37MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.63300833
38SMAD4_21799915_ChIP-Seq_A2780_Human1.62072996
39SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.55866399
40* BCAT_22108803_ChIP-Seq_LS180_Human1.55575748
41STAT3_23295773_ChIP-Seq_U87_Human1.53845133
42UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.52188408
43PIAS1_25552417_ChIP-Seq_VCAP_Human1.50792730
44RNF2_27304074_Chip-Seq_NSC_Mouse1.50619838
45ZNF263_19887448_ChIP-Seq_K562_Human1.49732990
46EZH2_27294783_Chip-Seq_NPCs_Mouse1.49171923
47MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.46819640
48AR_25329375_ChIP-Seq_VCAP_Human1.46815106
49PCGF2_27294783_Chip-Seq_NPCs_Mouse1.46181425
50MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.45958071
51SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.45767448
52ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.45558479
53NR3C1_21868756_ChIP-Seq_MCF10A_Human1.44072326
54* FOXA1_27270436_Chip-Seq_PROSTATE_Human1.43048934
55* FOXA1_25329375_ChIP-Seq_VCAP_Human1.43048934
56ZNF274_21170338_ChIP-Seq_K562_Hela1.42632258
57* TCF4_23295773_ChIP-Seq_U87_Human1.42236541
58IRF1_19129219_ChIP-ChIP_H3396_Human1.40569803
59NANOG_19829295_ChIP-Seq_ESCs_Human1.40001784
60SOX2_19829295_ChIP-Seq_ESCs_Human1.40001784
61WDR5_24793694_ChIP-Seq_LNCAP_Human1.39658647
62SUZ12_27294783_Chip-Seq_NPCs_Mouse1.38902712
63SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.38714296
64SMAD3_21741376_ChIP-Seq_EPCs_Human1.38357724
65EGR1_23403033_ChIP-Seq_LIVER_Mouse1.38274640
66KLF5_20875108_ChIP-Seq_MESCs_Mouse1.38243924
67PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.37868372
68* TCF4_22108803_ChIP-Seq_LS180_Human1.35716673
69FOXA1_21572438_ChIP-Seq_LNCaP_Human1.32801912
70NFE2_27457419_Chip-Seq_LIVER_Mouse1.32783511
71HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.32637507
72RUNX2_22187159_ChIP-Seq_PCA_Human1.31568026
73EST1_17652178_ChIP-ChIP_JURKAT_Human1.29233368
74SETDB1_19884257_ChIP-Seq_MESCs_Mouse1.26303289
75KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.25779130
76KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.25779130
77KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.25779130
78RUNX1_26923725_Chip-Seq_HPCs_Mouse1.25752069
79CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.25112988
80TP53_22127205_ChIP-Seq_IMR90_Human1.24836394
81OCT4_19829295_ChIP-Seq_ESCs_Human1.24276960
82NANOG_18555785_Chip-Seq_ESCs_Mouse1.24238816
83OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.23876505
84CRX_20693478_ChIP-Seq_RETINA_Mouse1.23675289
85POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.23655757
86TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.23655757
87AR_20517297_ChIP-Seq_VCAP_Human1.23575160
88GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.23166081
89TOP2B_26459242_ChIP-Seq_MCF-7_Human1.22688844
90STAT1_17558387_ChIP-Seq_HELA_Human1.22518178
91EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.21513816
92FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.21064844
93TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.20855262
94TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.19887609
95FLI1_21867929_ChIP-Seq_TH2_Mouse1.19196030
96SMC4_20622854_ChIP-Seq_HELA_Human1.18325234
97P53_22387025_ChIP-Seq_ESCs_Mouse1.17171187
98GATA3_21878914_ChIP-Seq_MCF-7_Human1.16222376
99MYC_18940864_ChIP-ChIP_HL60_Human1.16029803
100NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.14944832
101YY1_22570637_ChIP-Seq_MALME-3M_Human1.14426553
102MYC_27129775_Chip-Seq_CORNEA_Mouse1.14310447
103HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.14153595
104SOX2_22085726_ChIP-Seq_NPCs_Mouse1.14024613
105ELK1_19687146_ChIP-ChIP_HELA_Human1.13813479
106NCOR_22424771_ChIP-Seq_293T_Human1.12709982
107CDX2_22108803_ChIP-Seq_LS180_Human1.12250704
108STAT3_18555785_Chip-Seq_ESCs_Mouse1.11535028
109SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.09859035
110GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.08059320
111* SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.07835343
112EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.07767697
113* OCT4_21477851_ChIP-Seq_ESCs_Mouse1.07258156
114PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.06626175
115SOX2_21211035_ChIP-Seq_LN229_Human1.06463958
116P53_21459846_ChIP-Seq_SAOS-2_Human1.06423469
117ELF1_20517297_ChIP-Seq_JURKAT_Human1.06308437
118TCF7_22412390_ChIP-Seq_EML_Mouse1.05724779
119VDR_23849224_ChIP-Seq_CD4+_Human1.05562839
120SRF_21415370_ChIP-Seq_HL-1_Mouse1.05457119
121HTT_18923047_ChIP-ChIP_STHdh_Human1.05138929
122ETV2_25802403_ChIP-Seq_MESCs_Mouse1.04489373
123GATA3_21867929_ChIP-Seq_CD8_Mouse1.04369552
124PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.04254226
125GATA3_21867929_ChIP-Seq_TH1_Mouse1.04073674
126RAD21_21589869_ChIP-Seq_MESCs_Mouse1.03918402
127RXRA_24833708_ChIP-Seq_LIVER_Mouse1.03635833
128REST_21632747_ChIP-Seq_MESCs_Mouse1.02752474
129E2F1_18555785_Chip-Seq_ESCs_Mouse1.02542626
130SMAD4_21741376_ChIP-Seq_EPCs_Human1.02419467
131HOXB7_26014856_ChIP-Seq_BT474_Human1.01961133
132NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse1.01593952
133SPI1_26923725_Chip-Seq_HPCs_Mouse1.01219725
134P300_18555785_Chip-Seq_ESCs_Mouse1.01136640
135* RUNX1_27514584_Chip-Seq_MCF-7_Human1.00027818
136NOTCH1_21737748_ChIP-Seq_TLL_Human0.99556299
137SUZ12_18555785_Chip-Seq_ESCs_Mouse0.97462992
138TAL1_26923725_Chip-Seq_HPCs_Mouse0.97083646
139CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.96123934
140PRDM14_20953172_ChIP-Seq_ESCs_Human0.96037546
141* EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.94757316
142TET1_21451524_ChIP-Seq_MESCs_Mouse0.94332894
143CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.94024213
144RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.94000764
145MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.93857750
146CTCF_26484167_Chip-Seq_Bcells_Mouse0.93753366
147RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.91285627
148SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.91144047
149CTCF_20526341_ChIP-Seq_ESCs_Human0.90891450
150PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.90858541
151RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.90645398
152CTCF_21964334_ChIP-Seq_BJAB-B_Human0.90257718
153E2F1_20622854_ChIP-Seq_HELA_Human0.90150640
154* SOX11_22085726_ChIP-Seq_ESNs_Mouse0.89930797
155TET1_21490601_ChIP-Seq_MESCs_Mouse0.89741134
156EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.89256121
157KLF4_19829295_ChIP-Seq_ESCs_Human0.87848582
158GATA3_26560356_Chip-Seq_TH1_Human0.87506658
159RARA_24833708_ChIP-Seq_LIVER_Mouse0.87500057
160TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.86271063
161TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.84328966
162* CTCF_27219007_Chip-Seq_Bcells_Human0.84325532
163MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.83409966
164TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.82533933
165FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.81010598
166GF1_26923725_Chip-Seq_HPCs_Mouse0.80880316
167RAC3_21632823_ChIP-Seq_H3396_Human0.79846335
168PHF8_20622854_ChIP-Seq_HELA_Human0.79796942
169TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.79781751
170PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.78948891
171FOXH1_21741376_ChIP-Seq_ESCs_Human0.78925127
172CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.78811064
173SPI1_20517297_ChIP-Seq_HL60_Human0.77581189
174ESET_19884257_ChIP-Seq_ESCs_Mouse0.77451189
175SMAD3_21741376_ChIP-Seq_ESCs_Human0.76913301
176RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.76655265
177CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.76034659
178CTCF_18555785_ChIP-Seq_MESCs_Mouse0.75639289
179* GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse0.75599214
180SALL1_21062744_ChIP-ChIP_HESCs_Human0.75015471
181MYCN_18555785_ChIP-Seq_MESCs_Mouse0.74782399
182CBP_20019798_ChIP-Seq_JUKART_Human0.74398606
183IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.74398606
184CBX2_27304074_Chip-Seq_ESCs_Mouse0.74038447
185STAT3_18555785_ChIP-Seq_MESCs_Mouse0.73986691
186FLI1_27457419_Chip-Seq_LIVER_Mouse0.73801807
187KAP1_22055183_ChIP-Seq_ESCs_Mouse0.73778547
188GATA1_19941827_ChIP-Seq_MEL86_Mouse0.73736753

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005410_abnormal_fertilization9.26255229
2MP0008877_abnormal_DNA_methylation7.37441588
3MP0008995_early_reproductive_senescence5.80605822
4MP0001929_abnormal_gametogenesis4.56352828
5MP0005377_hearing/vestibular/ear_phenot4.54018787
6MP0003878_abnormal_ear_physiology4.54018787
7MP0003698_abnormal_male_reproductive4.42188940
8MP0002210_abnormal_sex_determination3.93580767
9MP0001145_abnormal_male_reproductive3.35614534
10MP0000653_abnormal_sex_gland2.90180163
11MP0003786_premature_aging2.84849318
12MP0002638_abnormal_pupillary_reflex2.73794353
13MP0006072_abnormal_retinal_apoptosis2.61445823
14MP0005551_abnormal_eye_electrophysiolog2.61205971
15MP0000372_irregular_coat_pigmentation2.49952968
16MP0008875_abnormal_xenobiotic_pharmacok2.48044137
17MP0002161_abnormal_fertility/fecundity2.46179016
18MP0002163_abnormal_gland_morphology2.15670696
19MP0005647_abnormal_sex_gland2.14653560
20MP0005623_abnormal_meninges_morphology2.13243479
21MP0003195_calcinosis2.10282633
22MP0002160_abnormal_reproductive_system2.10168270
23MP0005174_abnormal_tail_pigmentation2.08213441
24MP0002653_abnormal_ependyma_morphology2.07221061
25MP0002234_abnormal_pharynx_morphology2.03566514
26MP0001984_abnormal_olfaction2.02808979
27MP0002876_abnormal_thyroid_physiology2.00519018
28MP0003136_yellow_coat_color1.91813638
29MP0003879_abnormal_hair_cell1.90722296
30MP0001661_extended_life_span1.89830129
31MP0006292_abnormal_olfactory_placode1.87848254
32MP0001727_abnormal_embryo_implantation1.79574393
33MP0001986_abnormal_taste_sensitivity1.77050906
34MP0005171_absent_coat_pigmentation1.76920259
35MP0005379_endocrine/exocrine_gland_phen1.74787972
36MP0002837_dystrophic_cardiac_calcinosis1.72132650
37MP0008057_abnormal_DNA_replication1.70588702
38MP0002102_abnormal_ear_morphology1.65553452
39MP0001968_abnormal_touch/_nociception1.62301729
40MP0008872_abnormal_physiological_respon1.59913808
41MP0009046_muscle_twitch1.58973394
42MP0002736_abnormal_nociception_after1.58091430
43MP0001485_abnormal_pinna_reflex1.58042217
44MP0002938_white_spotting1.53364030
45MP0001486_abnormal_startle_reflex1.51966927
46MP0005646_abnormal_pituitary_gland1.49666782
47MP0002272_abnormal_nervous_system1.47966419
48MP0003045_fibrosis1.46189547
49MP0005084_abnormal_gallbladder_morpholo1.42978526
50MP0001764_abnormal_homeostasis1.39887314
51MP0010386_abnormal_urinary_bladder1.36716232
52MP0009278_abnormal_bone_marrow1.36593611
53MP0009745_abnormal_behavioral_response1.36341778
54MP0005075_abnormal_melanosome_morpholog1.35451644
55MP0004215_abnormal_myocardial_fiber1.33977216
56MP0005365_abnormal_bile_salt1.33386514
57MP0003315_abnormal_perineum_morphology1.32957855
58MP0005085_abnormal_gallbladder_physiolo1.29846887
59MP0002909_abnormal_adrenal_gland1.28434583
60MP0010094_abnormal_chromosome_stability1.27642628
61MP0002095_abnormal_skin_pigmentation1.27271581
62MP0005389_reproductive_system_phenotype1.25878461
63MP0002735_abnormal_chemical_nociception1.25551627
64MP0006276_abnormal_autonomic_nervous1.23572776
65MP0000383_abnormal_hair_follicle1.23100630
66MP0001502_abnormal_circadian_rhythm1.20407111
67MP0001529_abnormal_vocalization1.19752741
68MP0004142_abnormal_muscle_tone1.19410041
69MP0000569_abnormal_digit_pigmentation1.18620974
70MP0002928_abnormal_bile_duct1.17657389
71MP0003936_abnormal_reproductive_system1.14717415
72MP0005332_abnormal_amino_acid1.14215017
73MP0003646_muscle_fatigue1.13874684
74MP0008058_abnormal_DNA_repair1.13665944
75MP0004133_heterotaxia1.13262455
76MP0003115_abnormal_respiratory_system1.11853126
77MP0002557_abnormal_social/conspecific_i1.08935797
78MP0000015_abnormal_ear_pigmentation1.07561520
79MP0003718_maternal_effect1.07528589
80MP0000647_abnormal_sebaceous_gland1.07327111
81MP0003880_abnormal_central_pattern1.06652407
82MP0009780_abnormal_chondrocyte_physiolo1.06350395
83MP0001756_abnormal_urination1.04571938
84MP0003121_genomic_imprinting1.02244288
85MP0003111_abnormal_nucleus_morphology1.02133493
86MP0001119_abnormal_female_reproductive1.00560931
87MP0002282_abnormal_trachea_morphology1.00068900
88MP0000631_abnormal_neuroendocrine_gland0.99984400
89MP0001501_abnormal_sleep_pattern0.98201366
90MP0005645_abnormal_hypothalamus_physiol0.96328961
91MP0002168_other_aberrant_phenotype0.96317553
92MP0005670_abnormal_white_adipose0.96232780
93MP0003122_maternal_imprinting0.94799167
94MP0005195_abnormal_posterior_eye0.94090331
95MP0000751_myopathy0.93640574
96MP0002138_abnormal_hepatobiliary_system0.91565298
97MP0004019_abnormal_vitamin_homeostasis0.91318910
98MP0002229_neurodegeneration0.90808610
99MP0003283_abnormal_digestive_organ0.90513041
100MP0000026_abnormal_inner_ear0.90258347
101MP0002572_abnormal_emotion/affect_behav0.89707632
102MP0001970_abnormal_pain_threshold0.89583250
103MP0003699_abnormal_female_reproductive0.88376303
104MP0008775_abnormal_heart_ventricle0.87863557
105MP0001905_abnormal_dopamine_level0.87341669
106MP0004742_abnormal_vestibular_system0.86445156
107MP0000230_abnormal_systemic_arterial0.85887322
108MP0002752_abnormal_somatic_nervous0.84291748
109MP0002064_seizures0.83646501
110MP0001963_abnormal_hearing_physiology0.82480839
111MP0002090_abnormal_vision0.82050875
112MP0004924_abnormal_behavior0.80645413
113MP0005386_behavior/neurological_phenoty0.80645413
114MP0004233_abnormal_muscle_weight0.80620505
115MP0004084_abnormal_cardiac_muscle0.78897254
116MP0001324_abnormal_eye_pigmentation0.77770114
117MP0005076_abnormal_cell_differentiation0.77304167
118MP0006035_abnormal_mitochondrial_morpho0.77108255
119MP0004147_increased_porphyrin_level0.75425250
120MP0000639_abnormal_adrenal_gland0.75351576
121MP0006138_congestive_heart_failure0.74775039
122MP0001730_embryonic_growth_arrest0.74599208
123MP0004272_abnormal_basement_membrane0.73953727
124MP0009384_cardiac_valve_regurgitation0.71493738
125MP0003942_abnormal_urinary_system0.70876013
126MP0000427_abnormal_hair_cycle0.70791014
127MP0001440_abnormal_grooming_behavior0.69923812
128MP0004036_abnormal_muscle_relaxation0.69383625
129MP0000537_abnormal_urethra_morphology0.67719838
130MP0003123_paternal_imprinting0.67053509
131MP0008007_abnormal_cellular_replicative0.66773275
132MP0010307_abnormal_tumor_latency0.66411654
133MP0005395_other_phenotype0.65230374
134MP0003077_abnormal_cell_cycle0.64961351
135MP0005167_abnormal_blood-brain_barrier0.62367410
136MP0004808_abnormal_hematopoietic_stem0.60420232
137MP0004957_abnormal_blastocyst_morpholog0.60222697
138MP0004197_abnormal_fetal_growth/weight/0.59975752
139MP0005397_hematopoietic_system_phenotyp0.59049914
140MP0001545_abnormal_hematopoietic_system0.59049914
141MP0002295_abnormal_pulmonary_circulatio0.58958924
142MP0002084_abnormal_developmental_patter0.57485213
143MP0001958_emphysema0.51115019
144MP0001919_abnormal_reproductive_system0.50241316
145MP0004885_abnormal_endolymph0.48277319
146MP0002092_abnormal_eye_morphology0.47420883
147MP0003866_abnormal_defecation0.46329063
148MP0003011_delayed_dark_adaptation0.44320442
149MP0004134_abnormal_chest_morphology0.41405600
150MP0008961_abnormal_basal_metabolism0.40836764
151MP0001851_eye_inflammation0.39524241
152MP0000358_abnormal_cell_content/0.39450533
153MP0009703_decreased_birth_body0.39293227
154MP0002085_abnormal_embryonic_tissue0.39254658
155MP0001293_anophthalmia0.39225679
156MP0005391_vision/eye_phenotype0.38878160
157MP0003119_abnormal_digestive_system0.38834543
158MP0003693_abnormal_embryo_hatching0.38155481
159MP0005503_abnormal_tendon_morphology0.37455467
160MP0001672_abnormal_embryogenesis/_devel0.36068839
161MP0005380_embryogenesis_phenotype0.36068839
162MP0001697_abnormal_embryo_size0.35489398
163MP0004043_abnormal_pH_regulation0.35047506
164MP0009672_abnormal_birth_weight0.34569273
165MP0002139_abnormal_hepatobiliary_system0.34246010
166MP0002086_abnormal_extraembryonic_tissu0.33034256
167MP0002080_prenatal_lethality0.31684360
168MP0003329_amyloid_beta_deposits0.31346040
169MP0000313_abnormal_cell_death0.31131774
170MP0008932_abnormal_embryonic_tissue0.29673617
171MP0005253_abnormal_eye_physiology0.28636192
172MP0000534_abnormal_ureter_morphology0.26792757
173MP0003861_abnormal_nervous_system0.26564086
174MP0003787_abnormal_imprinting0.26044246

Predicted human phenotypes

RankGene SetZ-score
1Respiratory insufficiency due to defective ciliary clearance (HP:0200073)9.54832249
2Dynein arm defect of respiratory motile cilia (HP:0012255)8.92254513
3Absent/shortened dynein arms (HP:0200106)8.92254513
4Male infertility (HP:0003251)8.06455158
5Gonadotropin excess (HP:0000837)6.83256583
6Infertility (HP:0000789)6.74982746
7Abnormal respiratory motile cilium physiology (HP:0012261)6.41204074
8Abnormal respiratory epithelium morphology (HP:0012253)6.03880052
9Abnormal respiratory motile cilium morphology (HP:0005938)6.03880052
10Rhinitis (HP:0012384)6.01947166
11Gonadal dysgenesis (HP:0000133)5.58818683
12Chronic bronchitis (HP:0004469)5.03390952
13Azoospermia (HP:0000027)4.89159892
14Abnormal ciliary motility (HP:0012262)4.75179003
15Abnormal spermatogenesis (HP:0008669)4.69173620
16Nasal polyposis (HP:0100582)4.68407017
17Abnormality of the lower motor neuron (HP:0002366)4.49764292
18Pancreatic cysts (HP:0001737)4.26382642
19Male pseudohermaphroditism (HP:0000037)3.99262033
20Nephronophthisis (HP:0000090)3.94488543
21True hermaphroditism (HP:0010459)3.87509267
2211 pairs of ribs (HP:0000878)3.87097256
23Abnormality of the nasal mucosa (HP:0000433)3.85162510
24Pancreatic fibrosis (HP:0100732)3.80268727
25Hand muscle atrophy (HP:0009130)3.57303660
26Congenital stationary night blindness (HP:0007642)3.54004029
27Abnormal sex determination (HP:0012244)3.39871651
28Sex reversal (HP:0012245)3.39871651
29Chronic hepatic failure (HP:0100626)3.39544064
30Bronchiectasis (HP:0002110)3.36780994
31Attenuation of retinal blood vessels (HP:0007843)3.25470162
32Bronchitis (HP:0012387)3.13887301
33Type II lissencephaly (HP:0007260)3.11138994
34Abnormality of male internal genitalia (HP:0000022)2.94532922
35Facial diplegia (HP:0001349)2.92867357
36Testicular neoplasm (HP:0010788)2.91328580
37Abnormality of the renal medulla (HP:0100957)2.89149836
38Abnormality of the renal cortex (HP:0011035)2.88692534
39Abnormal drinking behavior (HP:0030082)2.80941312
40Polydipsia (HP:0001959)2.80941312
41Tubulointerstitial nephritis (HP:0001970)2.80240896
42Stage 5 chronic kidney disease (HP:0003774)2.77303507
43Amyotrophic lateral sclerosis (HP:0007354)2.75870353
44Distal upper limb amyotrophy (HP:0007149)2.71930442
45Upper limb amyotrophy (HP:0009129)2.71930442
46Decreased central vision (HP:0007663)2.67246050
47Tongue fasciculations (HP:0001308)2.65629993
48Fibular hypoplasia (HP:0003038)2.65372321
49Ankle clonus (HP:0011448)2.62887263
50Tubular atrophy (HP:0000092)2.60471305
51Abolished electroretinogram (ERG) (HP:0000550)2.56535300
52Metaphyseal cupping (HP:0003021)2.53484650
53Abnormal biliary tract physiology (HP:0012439)2.52484560
54Bile duct proliferation (HP:0001408)2.52484560
55Decreased electroretinogram (ERG) amplitude (HP:0000654)2.51978554
56Pendular nystagmus (HP:0012043)2.51802056
57Renovascular hypertension (HP:0100817)2.51539154
58Polyuria (HP:0000103)2.43140091
59Erythroderma (HP:0001019)2.42414696
60Progressive macrocephaly (HP:0004481)2.42101682
61Aplasia/Hypoplasia of the tongue (HP:0010295)2.40282115
62Recurrent otitis media (HP:0000403)2.39731024
63Acute necrotizing encephalopathy (HP:0006965)2.39535174
64Methylmalonic acidemia (HP:0002912)2.38169149
65Occipital encephalocele (HP:0002085)2.36552016
66Increased corneal curvature (HP:0100692)2.36210353
67Keratoconus (HP:0000563)2.36210353
68Muscle fibrillation (HP:0010546)2.35698190
69Cystic liver disease (HP:0006706)2.35528540
70Bony spicule pigmentary retinopathy (HP:0007737)2.34003808
71Cerebellar dysplasia (HP:0007033)2.33790753
72Gaze-evoked nystagmus (HP:0000640)2.30307770
73Furrowed tongue (HP:0000221)2.30144836
74Hemiparesis (HP:0001269)2.29948281
75Missing ribs (HP:0000921)2.29912208
76Acute encephalopathy (HP:0006846)2.28119175
77Hyperventilation (HP:0002883)2.24610614
78Impulsivity (HP:0100710)2.24009536
79Sclerocornea (HP:0000647)2.23978243
80Diaphragmatic weakness (HP:0009113)2.23068968
81Aplasia/Hypoplasia of the tibia (HP:0005772)2.22486182
82Heterotopia (HP:0002282)2.22249160
83Abnormal rod and cone electroretinograms (HP:0008323)2.21660351
84Increased CSF lactate (HP:0002490)2.19623254
85Gait imbalance (HP:0002141)2.18902106
86Mitochondrial inheritance (HP:0001427)2.18079232
87Congenital primary aphakia (HP:0007707)2.17222507
88Secondary amenorrhea (HP:0000869)2.13897384
89Tubulointerstitial abnormality (HP:0001969)2.13601109
90Chorioretinal atrophy (HP:0000533)2.12836984
91Nephrogenic diabetes insipidus (HP:0009806)2.09667599
92Renal cortical cysts (HP:0000803)2.08418599
93Methylmalonic aciduria (HP:0012120)2.08207450
94Pachygyria (HP:0001302)2.07259900
95Hepatocellular necrosis (HP:0001404)2.05452164
96Polycystic ovaries (HP:0000147)2.05293674
97Clonus (HP:0002169)2.05137268
98Lissencephaly (HP:0001339)2.03635026
99Abnormality of midbrain morphology (HP:0002418)2.02558764
100Molar tooth sign on MRI (HP:0002419)2.02558764
101Hypokalemic alkalosis (HP:0001949)2.02352207
102Optic disc pallor (HP:0000543)2.02259763
103Stridor (HP:0010307)2.01509173
104Elfin facies (HP:0004428)2.01065744
105Ketoacidosis (HP:0001993)2.00706332
106Mesangial abnormality (HP:0001966)1.97591751
107Genital tract atresia (HP:0001827)1.97454613
108Abnormal mitochondria in muscle tissue (HP:0008316)1.96533179
109Anencephaly (HP:0002323)1.96056273
110Hepatic necrosis (HP:0002605)1.95742127
111Hyperacusis (HP:0010780)1.95345601
112Congenital, generalized hypertrichosis (HP:0004540)1.94897551
113Ketosis (HP:0001946)1.94475842
114Hypothermia (HP:0002045)1.93799145
115Constricted visual fields (HP:0001133)1.93222792
116Abnormal urine output (HP:0012590)1.91951949
117Short tibia (HP:0005736)1.91448439
118Absent rod-and cone-mediated responses on ERG (HP:0007688)1.91083343
119Abnormality of the anterior horn cell (HP:0006802)1.89476275
120Degeneration of anterior horn cells (HP:0002398)1.89476275
121Abnormality of macular pigmentation (HP:0008002)1.89088223
122Primary amenorrhea (HP:0000786)1.88930084
123Upper motor neuron abnormality (HP:0002127)1.88470964
124Recurrent bronchitis (HP:0002837)1.87551533
125Recurrent sinusitis (HP:0011108)1.87417984
126Large for gestational age (HP:0001520)1.87070537
127Clumsiness (HP:0002312)1.86512390
128Intestinal atresia (HP:0011100)1.86499607
129Abnormality of dentin (HP:0010299)1.85298998
130Postaxial hand polydactyly (HP:0001162)1.85090388
131Selective tooth agenesis (HP:0001592)1.84979572
132Hyperglycinemia (HP:0002154)1.84761063
133Abnormality of the musculature of the hand (HP:0001421)1.82857461
134Hypoproteinemia (HP:0003075)1.81598720
135Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)1.81058734
136Hyporeflexia of lower limbs (HP:0002600)1.80802122
137Impaired proprioception (HP:0010831)1.80628076
138Insomnia (HP:0100785)1.79731762
139Hypomagnesemia (HP:0002917)1.79454864
140Postaxial foot polydactyly (HP:0001830)1.79130708
141Hypoplasia of the uterus (HP:0000013)1.78711776
142Hyperglycinuria (HP:0003108)1.76638060
143Progressive microcephaly (HP:0000253)1.76286734
144Increased serum lactate (HP:0002151)1.76079415
145Hypoplasia of the fovea (HP:0007750)1.73568869
146Aplasia/Hypoplasia of the fovea (HP:0008060)1.73568869
147Progressive inability to walk (HP:0002505)1.73183819
148Thyroiditis (HP:0100646)1.73119207
149Vaginal atresia (HP:0000148)1.72492092
150Overriding aorta (HP:0002623)1.72291564
151Pulmonary fibrosis (HP:0002206)1.72196083
152Retinal dysplasia (HP:0007973)1.70783506
153Decreased circulating renin level (HP:0003351)1.70354485
154Aplasia/hypoplasia of the uterus (HP:0008684)1.69759538
155Tachypnea (HP:0002789)1.69224424
156Abnormality of the vocal cords (HP:0008777)1.69135566
157Rhizomelia (HP:0008905)1.69082038
158Bladder diverticulum (HP:0000015)1.69034221
159Renal dysplasia (HP:0000110)1.68684284
160Rib fusion (HP:0000902)1.68453422
161Short ribs (HP:0000773)1.67869825
162Short thorax (HP:0010306)1.67357944
163Narrow forehead (HP:0000341)1.67260232
164Retinitis pigmentosa (HP:0000510)1.66580141
165Hyperpituitarism (HP:0010514)1.66270184
166Focal seizures (HP:0007359)1.65391122
167Germ cell neoplasia (HP:0100728)1.65155631
168Focal motor seizures (HP:0011153)1.64963469
169Spastic tetraparesis (HP:0001285)1.64783717
170Abnormality of renal excretion (HP:0011036)1.64626831
171Polyphagia (HP:0002591)1.64340893
172Hypoplasia of the pons (HP:0012110)1.64295420
173Supernumerary spleens (HP:0009799)1.64042109
174Renal duplication (HP:0000075)1.60070608
175Flat cornea (HP:0007720)1.57732336
176Premature ovarian failure (HP:0008209)1.56063157
177Abnormal ventriculo-arterial connection (HP:0011563)1.54941956
178Transposition of the great arteries (HP:0001669)1.54941956
179Abnormal connection of the cardiac segments (HP:0011545)1.54941956
180Difficulty climbing stairs (HP:0003551)1.54008428
181Microglossia (HP:0000171)1.53688327
182Bell-shaped thorax (HP:0001591)1.53278872
183Congenital hepatic fibrosis (HP:0002612)1.52883716
184Aplasia/Hypoplasia of the fibula (HP:0006492)1.52036729
185Hypoplasia of the capital femoral epiphysis (HP:0003090)1.51070488
186Decreased motor nerve conduction velocity (HP:0003431)1.49511809
187Medial flaring of the eyebrow (HP:0010747)1.48500879

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDK36.82986793
2PDK46.82986793
3FRK4.66374116
4PRKD34.51944888
5PDK24.21222153
6ICK4.19335073
7TESK13.84367229
8MAP4K23.48025015
9INSRR3.38562043
10CDK123.35088225
11TYRO33.22620568
12BMPR1B3.05113019
13NUAK12.58317540
14ZAK2.51504351
15WNK42.49195621
16ADRBK22.39657752
17PTK2B2.35680806
18NEK22.19547602
19PNCK2.18674483
20GRK12.10350667
21OXSR12.01715300
22ACVR1B1.82922694
23NEK11.75812564
24STK38L1.70885771
25STK391.64537174
26WNK11.64268317
27MAPK131.63794611
28TIE11.58856986
29STK31.57517226
30WNK31.57230015
31CDC71.46456213
32MKNK21.38985592
33TGFBR11.37840061
34EIF2AK31.31859529
35TLK11.31102424
36PHKG21.30370897
37PHKG11.30370897
38FER1.29764895
39PLK21.28809575
40EEF2K1.27935538
41EPHA41.26128333
42MAPK151.25052475
43PAK31.24369763
44BCKDK1.24356366
45ERBB31.23968161
46TRIM281.23847226
47MAP3K41.23027417
48MUSK1.18600139
49MST41.16773673
50VRK21.16445298
51BRD41.14751136
52EIF2AK11.14405480
53CDK71.12288357
54TRIB31.11952354
55TNIK1.11628630
56CASK1.06484437
57WEE11.05962227
58DYRK21.02628827
59CDK91.02002391
60STK381.01993137
61MARK10.97113359
62PRKCE0.96573141
63TTK0.95400392
64CDK40.94418225
65CDK190.93866115
66TXK0.90486502
67MTOR0.90325264
68RIPK10.88756590
69FGFR20.87515772
70VRK10.85175743
71PTK60.84607047
72ADRBK10.84193523
73ATR0.84045148
74MAP3K100.82133300
75LMTK20.81893549
76PLK30.80081335
77MKNK10.79627034
78PASK0.79399920
79NTRK30.77530639
80STK240.77111751
81CHEK10.74472757
82CAMK1G0.74208179
83LATS10.72491636
84NME10.71469418
85TAOK30.71102911
86IRAK10.71088983
87PAK20.69882658
88MAPKAPK50.69398917
89DYRK1B0.68638495
90EPHB10.68506076
91SRPK10.68217616
92BCR0.68158555
93PRKCG0.64230174
94PLK10.63361679
95TNK20.63160361
96PIK3CG0.60310324
97TEC0.59076830
98ATM0.58951605
99PAK40.58439897
100PIK3CA0.57914155
101PKN10.57765415
102PBK0.57258205
103MAP3K120.55755456
104MYLK0.55036699
105EPHA30.54789304
106BRSK20.54776301
107PRKD20.54116864
108CHEK20.53438180
109DAPK20.53256546
110PDK10.47366988
111PDGFRA0.46983139
112CSNK1A1L0.46927633
113DYRK30.45771498
114ERBB20.43386204
115CAMK2A0.40941691
116PLK40.40713424
117CSNK1A10.39915904
118GRK50.39712416
119PRKACA0.39280913
120PRKCI0.38841098
121CDK30.37152810
122RPS6KA40.35933451
123RPS6KA50.35723841
124MAP2K20.34900855
125PDGFRB0.33988325
126IGF1R0.33951436
127NLK0.33919242
128CDK80.32697810
129CCNB10.32233426
130MINK10.31907738
131CDK10.27735428
132CDK20.27701773
133MET0.26562724
134PTK20.25269442
135RET0.24935177
136PRKACB0.24356016
137PINK10.24167023
138BMX0.24091084
139PAK10.23460617
140MAPK10.23240222
141EGFR0.22796110
142MAP2K70.22723659
143NTRK20.22524664
144GSK3B0.22365080
145CDC42BPA0.19927274
146PRKDC0.18747498
147LATS20.18471684
148PAK60.18324214
149PRKAA10.16928092
150CSNK1G30.15430922
151STK110.15251761
152CSNK1D0.14323363
153PKN20.13920685
154EPHA20.12683068
155CSNK1G20.12550297
156CSNK1E0.11939051
157MAPK100.11177397
158STK40.11157220
159MAPKAPK30.11051121
160MAPK140.10317849
161MAPK80.10244263
162CSK0.10072988
163MAPK30.09390253
164PDPK10.08121119
165RPS6KB10.07953547
166GSK3A0.07815293
167PIM10.07695098
168AURKB0.06151142
169CSNK1G10.06069794
170CSNK2A20.05528081

Predicted pathways (KEGG)

RankGene SetZ-score
1Dorso-ventral axis formation_Homo sapiens_hsa043203.98189156
2Fatty acid biosynthesis_Homo sapiens_hsa000613.92104156
3Pyruvate metabolism_Homo sapiens_hsa006203.27869907
4Basal transcription factors_Homo sapiens_hsa030222.95067249
5Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.91416390
6Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.89801700
7Phototransduction_Homo sapiens_hsa047442.72563485
8Butanoate metabolism_Homo sapiens_hsa006502.61699862
9Glycolysis / Gluconeogenesis_Homo sapiens_hsa000102.48060398
10mRNA surveillance pathway_Homo sapiens_hsa030152.43220820
11Vitamin B6 metabolism_Homo sapiens_hsa007502.42216619
12Propanoate metabolism_Homo sapiens_hsa006402.29095708
13Selenocompound metabolism_Homo sapiens_hsa004502.22955767
14Fanconi anemia pathway_Homo sapiens_hsa034602.22301039
15Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.20303210
16Fatty acid metabolism_Homo sapiens_hsa012122.16705390
17Primary bile acid biosynthesis_Homo sapiens_hsa001202.16666404
18Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.10040147
19RNA transport_Homo sapiens_hsa030132.07182096
20Oocyte meiosis_Homo sapiens_hsa041142.02259023
21Protein export_Homo sapiens_hsa030601.95262206
22Vitamin digestion and absorption_Homo sapiens_hsa049771.88218897
23Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.86067952
24Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.85116308
25alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.85114085
26Tryptophan metabolism_Homo sapiens_hsa003801.79446810
27Ether lipid metabolism_Homo sapiens_hsa005651.78300978
28Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.78163530
29Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.76253187
30Glucagon signaling pathway_Homo sapiens_hsa049221.75270108
31Hedgehog signaling pathway_Homo sapiens_hsa043401.74738181
32Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.71658238
33Oxidative phosphorylation_Homo sapiens_hsa001901.68464463
34Nitrogen metabolism_Homo sapiens_hsa009101.65260133
35Steroid biosynthesis_Homo sapiens_hsa001001.61939719
36Peroxisome_Homo sapiens_hsa041461.59913299
37PPAR signaling pathway_Homo sapiens_hsa033201.58454134
38Glycerolipid metabolism_Homo sapiens_hsa005611.56473787
39Maturity onset diabetes of the young_Homo sapiens_hsa049501.56212812
40Linoleic acid metabolism_Homo sapiens_hsa005911.53077185
41Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.53075824
42Lysine degradation_Homo sapiens_hsa003101.51619116
43Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.51357440
44Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.49400300
45Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.47089006
46RNA polymerase_Homo sapiens_hsa030201.45227775
47Fatty acid degradation_Homo sapiens_hsa000711.41955254
48Mineral absorption_Homo sapiens_hsa049781.41763229
49Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.39873544
50Steroid hormone biosynthesis_Homo sapiens_hsa001401.38766964
51Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.37719671
52Non-homologous end-joining_Homo sapiens_hsa034501.36953921
53Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.34285397
54Renin secretion_Homo sapiens_hsa049241.32363466
55Antigen processing and presentation_Homo sapiens_hsa046121.31729882
56Cysteine and methionine metabolism_Homo sapiens_hsa002701.28869902
57One carbon pool by folate_Homo sapiens_hsa006701.28444021
58beta-Alanine metabolism_Homo sapiens_hsa004101.26995473
59Parkinsons disease_Homo sapiens_hsa050121.23449891
60Pentose phosphate pathway_Homo sapiens_hsa000301.21925955
61ECM-receptor interaction_Homo sapiens_hsa045121.21521733
62Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.19158846
63Carbohydrate digestion and absorption_Homo sapiens_hsa049731.18577876
64Small cell lung cancer_Homo sapiens_hsa052221.13809861
65Nicotine addiction_Homo sapiens_hsa050331.13096561
66Arachidonic acid metabolism_Homo sapiens_hsa005901.12680358
67Homologous recombination_Homo sapiens_hsa034401.07467060
68Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.07186275
69Olfactory transduction_Homo sapiens_hsa047401.05949550
70Glycerophospholipid metabolism_Homo sapiens_hsa005641.05137733
71Ovarian steroidogenesis_Homo sapiens_hsa049131.02898946
72Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.02646147
73Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.02639418
74Taste transduction_Homo sapiens_hsa047421.02042849
75Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.98267665
76Basal cell carcinoma_Homo sapiens_hsa052170.98113069
77Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.97879438
78Cell cycle_Homo sapiens_hsa041100.96236380
79Protein digestion and absorption_Homo sapiens_hsa049740.95948297
80Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.95463663
81Caffeine metabolism_Homo sapiens_hsa002320.94853141
82Histidine metabolism_Homo sapiens_hsa003400.94457951
83Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.92139150
84Arginine and proline metabolism_Homo sapiens_hsa003300.91754752
85Central carbon metabolism in cancer_Homo sapiens_hsa052300.91231657
86Notch signaling pathway_Homo sapiens_hsa043300.90807231
87Retinol metabolism_Homo sapiens_hsa008300.89074610
88TGF-beta signaling pathway_Homo sapiens_hsa043500.88652978
89Inositol phosphate metabolism_Homo sapiens_hsa005620.87753105
90Estrogen signaling pathway_Homo sapiens_hsa049150.84823718
91Amoebiasis_Homo sapiens_hsa051460.84216401
92Pentose and glucuronate interconversions_Homo sapiens_hsa000400.83160900
93cGMP-PKG signaling pathway_Homo sapiens_hsa040220.82633473
94Adipocytokine signaling pathway_Homo sapiens_hsa049200.82625435
95Amphetamine addiction_Homo sapiens_hsa050310.80579149
96Complement and coagulation cascades_Homo sapiens_hsa046100.80420817
97Asthma_Homo sapiens_hsa053100.80383720
98Metabolic pathways_Homo sapiens_hsa011000.78495845
99Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.77072064
100Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.75323437
101Fat digestion and absorption_Homo sapiens_hsa049750.75228114
102Proteasome_Homo sapiens_hsa030500.74892340
103Chemical carcinogenesis_Homo sapiens_hsa052040.74865049
104Thyroid hormone signaling pathway_Homo sapiens_hsa049190.74664344
105Sulfur metabolism_Homo sapiens_hsa009200.73103837
106Phosphatidylinositol signaling system_Homo sapiens_hsa040700.71663639
107Morphine addiction_Homo sapiens_hsa050320.71358026
108Serotonergic synapse_Homo sapiens_hsa047260.71350488
109Toxoplasmosis_Homo sapiens_hsa051450.69699119
110Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.69500361
111Alzheimers disease_Homo sapiens_hsa050100.69148362
112GABAergic synapse_Homo sapiens_hsa047270.68497681
113Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.68450168
114Glutathione metabolism_Homo sapiens_hsa004800.68233416
115Carbon metabolism_Homo sapiens_hsa012000.67131618
116Regulation of autophagy_Homo sapiens_hsa041400.66423940
117Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.65720036
118AMPK signaling pathway_Homo sapiens_hsa041520.64743012
119Tight junction_Homo sapiens_hsa045300.63074433
120Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.63015157
121Fatty acid elongation_Homo sapiens_hsa000620.62500413
122Longevity regulating pathway - mammal_Homo sapiens_hsa042110.62433451
123Nucleotide excision repair_Homo sapiens_hsa034200.62140095
124Circadian entrainment_Homo sapiens_hsa047130.61153755
125Sulfur relay system_Homo sapiens_hsa041220.59458534
126SNARE interactions in vesicular transport_Homo sapiens_hsa041300.59398181
127VEGF signaling pathway_Homo sapiens_hsa043700.58629920
128Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.58612197
129Intestinal immune network for IgA production_Homo sapiens_hsa046720.58416143
130Insulin secretion_Homo sapiens_hsa049110.58043109
131Glutamatergic synapse_Homo sapiens_hsa047240.57470017
132Herpes simplex infection_Homo sapiens_hsa051680.56487753
133Purine metabolism_Homo sapiens_hsa002300.56431812
134N-Glycan biosynthesis_Homo sapiens_hsa005100.56279302
135Salivary secretion_Homo sapiens_hsa049700.55870374
136Wnt signaling pathway_Homo sapiens_hsa043100.55166148
137Circadian rhythm_Homo sapiens_hsa047100.54968606
138Focal adhesion_Homo sapiens_hsa045100.54835322
139Vascular smooth muscle contraction_Homo sapiens_hsa042700.54692570
140Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.53273721
141ABC transporters_Homo sapiens_hsa020100.53050277
142Endocytosis_Homo sapiens_hsa041440.50964374
143Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.50847814
144Axon guidance_Homo sapiens_hsa043600.50652365
145Collecting duct acid secretion_Homo sapiens_hsa049660.50178398
146Sphingolipid metabolism_Homo sapiens_hsa006000.50099917
147cAMP signaling pathway_Homo sapiens_hsa040240.49693139
148Cyanoamino acid metabolism_Homo sapiens_hsa004600.47761312
149Cardiac muscle contraction_Homo sapiens_hsa042600.46632965
150Viral carcinogenesis_Homo sapiens_hsa052030.46407034
151Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.45452056
152Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.45328371
153Hippo signaling pathway_Homo sapiens_hsa043900.45227397
154HTLV-I infection_Homo sapiens_hsa051660.44770280
155Influenza A_Homo sapiens_hsa051640.44425040
156Insulin resistance_Homo sapiens_hsa049310.43066600
157Biosynthesis of amino acids_Homo sapiens_hsa012300.43052676
158Bile secretion_Homo sapiens_hsa049760.42627632
159Spliceosome_Homo sapiens_hsa030400.41384778
160Huntingtons disease_Homo sapiens_hsa050160.39320656
161Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.38358108
162Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.38126184
163Base excision repair_Homo sapiens_hsa034100.34623594
164RNA degradation_Homo sapiens_hsa030180.32792777
165Phospholipase D signaling pathway_Homo sapiens_hsa040720.32773643
166Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.30697715
167Thyroid hormone synthesis_Homo sapiens_hsa049180.29538949

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