SLC35A2

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 member of the nucleotide-sugar transporter family. The encoded protein is a multi-pass membrane protein. It transports UDP-galactose from the cytosol into Golgi vesicles, where it serves as a glycosyl donor for the generation of glycans. Mutations in this gene cause congenital disorder of glycosylation type IIm (CDG2M). Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1axon ensheathment in central nervous system (GO:0032291)9.09536541
2central nervous system myelination (GO:0022010)9.09536541
3fatty acid elongation (GO:0030497)7.26476695
4Golgi transport vesicle coating (GO:0048200)6.70866435
5COPI coating of Golgi vesicle (GO:0048205)6.70866435
6ensheathment of neurons (GO:0007272)5.74413528
7axon ensheathment (GO:0008366)5.74413528
8myelination (GO:0042552)5.67548451
9maintenance of protein localization in endoplasmic reticulum (GO:0035437)5.22096182
10protein retention in ER lumen (GO:0006621)5.16849675
11cholesterol biosynthetic process (GO:0006695)5.09791570
12protein maturation by protein folding (GO:0022417)4.80827219
13long-chain fatty acid biosynthetic process (GO:0042759)4.78948347
14desmosome organization (GO:0002934)4.48568272
15sterol biosynthetic process (GO:0016126)4.44237171
16proline biosynthetic process (GO:0006561)4.35736374
17oligodendrocyte differentiation (GO:0048709)4.22614492
18myelin maintenance (GO:0043217)4.20744214
19long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)4.16762338
20virion attachment to host cell (GO:0019062)4.07047055
21adhesion of symbiont to host cell (GO:0044650)4.07047055
22negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)4.03807299
23retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)3.92261051
24hemidesmosome assembly (GO:0031581)3.85924570
25long-chain fatty-acyl-CoA metabolic process (GO:0035336)3.83484170
26amyloid precursor protein metabolic process (GO:0042982)3.78243078
27negative regulation of neurotransmitter transport (GO:0051589)3.78144428
28negative regulation of neurotransmitter secretion (GO:0046929)3.77006057
29GDP-mannose metabolic process (GO:0019673)3.76414323
30isoprenoid biosynthetic process (GO:0008299)3.67911395
31fatty-acyl-CoA biosynthetic process (GO:0046949)3.66335705
32photoreceptor cell differentiation (GO:0046530)3.59924188
33eye photoreceptor cell differentiation (GO:0001754)3.59924188
34substantia nigra development (GO:0021762)3.53556023
35creatine metabolic process (GO:0006600)3.53263235
36skin morphogenesis (GO:0043589)3.52611064
37glycerophospholipid catabolic process (GO:0046475)3.47990760
38mitotic nuclear envelope reassembly (GO:0007084)3.43432279
39nuclear envelope reassembly (GO:0031468)3.43432279
40fatty-acyl-CoA metabolic process (GO:0035337)3.43324439
41asymmetric protein localization (GO:0008105)3.41045915
42regulation of metalloenzyme activity (GO:0048552)3.38165880
43apical protein localization (GO:0045176)3.37283041
44response to methylmercury (GO:0051597)3.36334340
45glycosylceramide metabolic process (GO:0006677)3.36093318
46pentose-phosphate shunt (GO:0006098)3.33919098
47negative regulation of protein localization to cell surface (GO:2000009)3.28140255
48positive regulation of oligodendrocyte differentiation (GO:0048714)3.25222598
49regulation of collateral sprouting (GO:0048670)3.24045425
50negative regulation of peptidyl-threonine phosphorylation (GO:0010801)3.23230280
51very long-chain fatty acid metabolic process (GO:0000038)3.21222501
52L-amino acid import (GO:0043092)3.20878408
53regulation of water loss via skin (GO:0033561)3.20789277
54L-serine transport (GO:0015825)3.18135518
55presynaptic membrane assembly (GO:0097105)3.18003007
56glucose catabolic process (GO:0006007)3.17881663
574-hydroxyproline metabolic process (GO:0019471)3.16384703
58response to lipoprotein particle (GO:0055094)3.16023235
59import into cell (GO:0098657)3.15482265
60amyloid precursor protein catabolic process (GO:0042987)3.14878895
61response to redox state (GO:0051775)3.14380295
62cellular copper ion homeostasis (GO:0006878)3.11373977
63presynaptic membrane organization (GO:0097090)3.10810048
64axonemal dynein complex assembly (GO:0070286)3.10019961
65proline metabolic process (GO:0006560)3.09722471
66astrocyte development (GO:0014002)3.09390793
67peptidyl-tyrosine autophosphorylation (GO:0038083)3.07879433
68adhesion of symbiont to host (GO:0044406)3.07788630
69acyl-CoA biosynthetic process (GO:0071616)3.07343931
70thioester biosynthetic process (GO:0035384)3.07343931
71establishment of mitochondrion localization (GO:0051654)3.06982188
72primary alcohol catabolic process (GO:0034310)3.03527676
73NADPH regeneration (GO:0006740)3.01532689
74positive regulation of Cdc42 GTPase activity (GO:0043089)2.99849964
75myelination in peripheral nervous system (GO:0022011)2.97448806
76peripheral nervous system axon ensheathment (GO:0032292)2.97448806
77epithelial cell-cell adhesion (GO:0090136)2.95199775
78protein palmitoylation (GO:0018345)2.94275798
79limb bud formation (GO:0060174)2.89779573
80adenine nucleotide transport (GO:0051503)2.88483804
81peptidyl-proline hydroxylation (GO:0019511)2.86918826
82basement membrane organization (GO:0071711)2.84567689
83maternal placenta development (GO:0001893)2.84280339
84amino acid import (GO:0043090)2.81630166
85activation of signaling protein activity involved in unfolded protein response (GO:0006987)2.81070981
86purine nucleotide transport (GO:0015865)2.80725645
87endoplasmic reticulum calcium ion homeostasis (GO:0032469)2.80203186
88positive regulation of cellular amine metabolic process (GO:0033240)2.78874452
89sphingomyelin metabolic process (GO:0006684)2.78038488
90neuron cell-cell adhesion (GO:0007158)2.75625870
91dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.74934523
92nucleotide-sugar biosynthetic process (GO:0009226)2.73580334
93positive regulation of nuclease activity (GO:0032075)2.73349068
94magnesium ion transport (GO:0015693)2.70802010
95glucose 6-phosphate metabolic process (GO:0051156)2.70606587
96regulation of translational termination (GO:0006449)2.69623472
97regulation of mammary gland epithelial cell proliferation (GO:0033599)2.66957793
98membrane tubulation (GO:0097320)2.66138385
99protein hydroxylation (GO:0018126)2.65676690
100endoplasmic reticulum unfolded protein response (GO:0030968)2.65531302
101serine transport (GO:0032329)2.64695498
102dopamine biosynthetic process (GO:0042416)2.62665253
103regulation of lipoprotein metabolic process (GO:0050746)2.61153241
104nucleobase-containing small molecule interconversion (GO:0015949)2.60748998
105transmission of nerve impulse (GO:0019226)2.60440736
106COPII vesicle coating (GO:0048208)2.60224719
107negative regulation of release of cytochrome c from mitochondria (GO:0090201)2.59431468
108ceramide biosynthetic process (GO:0046513)2.58971930
109vesicle coating (GO:0006901)2.57734779
110axon development (GO:0061564)2.57712606
111hyaluronan catabolic process (GO:0030214)2.57323354
112cell-substrate junction assembly (GO:0007044)2.57109059
113virion assembly (GO:0019068)2.56559851
114leukocyte migration involved in inflammatory response (GO:0002523)2.56551272
115positive regulation of action potential (GO:0045760)2.54743224
116formation of translation preinitiation complex (GO:0001731)2.52764684
117establishment of skin barrier (GO:0061436)2.52156673
118multicellular organismal water homeostasis (GO:0050891)2.51933003
119regulation of cholesterol homeostasis (GO:2000188)2.51858268
120regulation of nuclease activity (GO:0032069)2.51810442
121cell adhesion mediated by integrin (GO:0033627)2.50962188
122establishment of viral latency (GO:0019043)2.50911733
123cerebral cortex radially oriented cell migration (GO:0021799)2.50808702
124cellular response to unfolded protein (GO:0034620)2.49771684
125ER-nucleus signaling pathway (GO:0006984)2.49767025
126negative regulation of axonogenesis (GO:0050771)2.49143607
127purine ribonucleotide transport (GO:0015868)2.47995432
128protein localization to endosome (GO:0036010)2.46835120
129planar cell polarity pathway involved in neural tube closure (GO:0090179)2.46576001
130phosphatidylserine metabolic process (GO:0006658)2.46259564
131gap junction assembly (GO:0016264)2.45924800
132GPI anchor metabolic process (GO:0006505)2.44870528
133regulation of amyloid precursor protein catabolic process (GO:1902991)2.44670203
134pinocytosis (GO:0006907)2.44324440
135type B pancreatic cell proliferation (GO:0044342)2.44230530
136positive regulation of glial cell differentiation (GO:0045687)2.44034476
137glomerular epithelial cell development (GO:0072310)2.43984595
138GPI anchor biosynthetic process (GO:0006506)2.43836262
139establishment of integrated proviral latency (GO:0075713)2.43766069
140muscle cell migration (GO:0014812)2.43597613
141glutathione biosynthetic process (GO:0006750)2.43026859
142branching involved in mammary gland duct morphogenesis (GO:0060444)2.42281373
143embryo implantation (GO:0007566)2.41591270
144cellular response to epinephrine stimulus (GO:0071872)2.39782757
145lipopolysaccharide biosynthetic process (GO:0009103)2.39324146
146peripheral nervous system development (GO:0007422)2.39210165
147oligosaccharide catabolic process (GO:0009313)2.38815076
148establishment of apical/basal cell polarity (GO:0035089)2.38184797
149apoptotic process involved in morphogenesis (GO:0060561)2.38153180
150motile cilium assembly (GO:0044458)2.37981720
151neuron remodeling (GO:0016322)2.37532699
152glial cell differentiation (GO:0010001)2.36861296
153negative regulation of JUN kinase activity (GO:0043508)2.36402667
154regulation of cholesterol biosynthetic process (GO:0045540)2.36256151
155negative regulation of acute inflammatory response (GO:0002674)2.36041971
156activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO2.35825160
157cellular response to cholesterol (GO:0071397)2.33389959
158cellular protein complex localization (GO:0034629)2.32982816
159organ growth (GO:0035265)2.32418374
160cellular response to topologically incorrect protein (GO:0035967)2.32111759
161glutamine family amino acid biosynthetic process (GO:0009084)2.31481216
162neurotransmitter uptake (GO:0001504)2.31331697
163alcohol biosynthetic process (GO:0046165)2.31287163
164mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.30449640
165epithelial cell differentiation involved in prostate gland development (GO:0060742)2.30156539
166protein carboxylation (GO:0018214)2.29894494
167peptidyl-glutamic acid carboxylation (GO:0017187)2.29894494
168glycosphingolipid catabolic process (GO:0046479)2.29860771
169barbed-end actin filament capping (GO:0051016)2.29540537
170adherens junction assembly (GO:0034333)2.29191079
171cholesterol metabolic process (GO:0008203)2.29015118
172proteasome assembly (GO:0043248)2.28938629
173UV protection (GO:0009650)2.28421519
174negative regulation of hydrogen peroxide-induced cell death (GO:1903206)2.27960425
175regulation of beta-amyloid formation (GO:1902003)2.27354560
176detection of temperature stimulus involved in sensory perception (GO:0050961)2.27271577
177detection of temperature stimulus involved in sensory perception of pain (GO:0050965)2.27271577
178pyrimidine nucleoside salvage (GO:0043097)2.26489244
179pyrimidine-containing compound salvage (GO:0008655)2.26489244
180peptidyl-cysteine modification (GO:0018198)2.26372561
181bundle of His cell to Purkinje myocyte communication (GO:0086069)2.26223172
182neural nucleus development (GO:0048857)2.25443234
183positive regulation of epidermal cell differentiation (GO:0045606)2.24817745
184cell-substrate adherens junction assembly (GO:0007045)2.24270935
185focal adhesion assembly (GO:0048041)2.24270935
186membrane assembly (GO:0071709)2.23924764
187phosphatidylserine acyl-chain remodeling (GO:0036150)2.23347799
188membrane protein ectodomain proteolysis (GO:0006509)2.23288034
189nonribosomal peptide biosynthetic process (GO:0019184)2.22826644
190regulation of apoptotic process involved in morphogenesis (GO:1902337)2.22524881
191* nucleotide transmembrane transport (GO:1901679)2.22505919
192regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.22121903
193atrioventricular valve morphogenesis (GO:0003181)2.21980624
194positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)2.21687335
195urea cycle (GO:0000050)2.21570173
196NADP metabolic process (GO:0006739)2.19924596
197hypotonic response (GO:0006971)2.19401776

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human4.16941168
2TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.29631428
3ZNF263_19887448_ChIP-Seq_K562_Human2.81140568
4SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.70919623
5EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.69991435
6TRIM28_21343339_ChIP-Seq_HEK293_Human2.47465708
7GBX2_23144817_ChIP-Seq_PC3_Human2.45342968
8SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.39568700
9SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.34241916
10RARG_19884340_ChIP-ChIP_MEFs_Mouse2.29809583
11SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse2.28481430
12PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.17500160
13SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.15842631
14JARID2_20064375_ChIP-Seq_MESCs_Mouse2.13780497
15MTF2_20144788_ChIP-Seq_MESCs_Mouse2.09541258
16RACK7_27058665_Chip-Seq_MCF-7_Human2.08972673
17SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.07472373
18EED_16625203_ChIP-ChIP_MESCs_Mouse2.06742189
19CDX2_19796622_ChIP-Seq_MESCs_Mouse2.05412230
20AR_21572438_ChIP-Seq_LNCaP_Human2.04559768
21ELK3_25401928_ChIP-Seq_HUVEC_Human2.00733916
22EZH2_27304074_Chip-Seq_ESCs_Mouse2.00392069
23HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.99775536
24SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.98915634
25RNF2_18974828_ChIP-Seq_MESCs_Mouse1.97564438
26EZH2_18974828_ChIP-Seq_MESCs_Mouse1.97564438
27SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.95014388
28DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.91037619
29PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.89220057
30JARID2_20075857_ChIP-Seq_MESCs_Mouse1.88598435
31MYC_18555785_ChIP-Seq_MESCs_Mouse1.87412595
32NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.85952955
33LXR_22292898_ChIP-Seq_THP-1_Human1.84642861
34TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.82276963
35EZH2_27294783_Chip-Seq_ESCs_Mouse1.77602430
36OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.77528386
37MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.77020705
38SUZ12_27294783_Chip-Seq_ESCs_Mouse1.75826971
39MYC_18358816_ChIP-ChIP_MESCs_Mouse1.70699470
40VDR_22108803_ChIP-Seq_LS180_Human1.70391985
41ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.69850784
42KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.69334175
43JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.69312659
44HIF1A_21447827_ChIP-Seq_MCF-7_Human1.67612096
45CLOCK_20551151_ChIP-Seq_293T_Human1.65155005
46WT1_19549856_ChIP-ChIP_CCG9911_Human1.64911441
47VDR_21846776_ChIP-Seq_THP-1_Human1.64441092
48SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.60892620
49TAF15_26573619_Chip-Seq_HEK293_Human1.60420458
50NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.59145354
51E2F7_22180533_ChIP-Seq_HELA_Human1.58638483
52XRN2_22483619_ChIP-Seq_HELA_Human1.56427413
53FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.53128327
54ATF3_27146783_Chip-Seq_COLON_Human1.53026431
55RNF2_27304074_Chip-Seq_ESCs_Mouse1.51660788
56NELFA_20434984_ChIP-Seq_ESCs_Mouse1.51220140
57CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.50366141
58KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.49333859
59KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.49150564
60KLF4_18555785_ChIP-Seq_MESCs_Mouse1.48168341
61ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.47597591
62DCP1A_22483619_ChIP-Seq_HELA_Human1.46846857
63HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.45456083
64PIAS1_25552417_ChIP-Seq_VCAP_Human1.44865465
65PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.44480567
66ZFX_18555785_ChIP-Seq_MESCs_Mouse1.43402344
67VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.41614077
68MYC_19030024_ChIP-ChIP_MESCs_Mouse1.41485672
69DROSHA_22980978_ChIP-Seq_HELA_Human1.41265925
70MYC_19079543_ChIP-ChIP_MESCs_Mouse1.40409089
71TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.40391215
72NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.38958706
73NRF2_20460467_ChIP-Seq_MEFs_Mouse1.38958706
74MYC_22102868_ChIP-Seq_BL_Human1.37863806
75STAT3_1855785_ChIP-Seq_MESCs_Mouse1.37257490
76RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.35616138
77E2F1_18555785_ChIP-Seq_MESCs_Mouse1.33346040
78CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.33298461
79ERG_21242973_ChIP-ChIP_JURKAT_Human1.32113829
80TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.31936910
81ZFP57_27257070_Chip-Seq_ESCs_Mouse1.31840442
82TET1_21451524_ChIP-Seq_MESCs_Mouse1.31644890
83CTBP1_25329375_ChIP-Seq_LNCAP_Human1.31493609
84STAT6_21828071_ChIP-Seq_BEAS2B_Human1.30720957
85SMAD3_21741376_ChIP-Seq_EPCs_Human1.30143262
86EZH2_22144423_ChIP-Seq_EOC_Human1.29145460
87SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.28283444
88ELF1_17652178_ChIP-ChIP_JURKAT_Human1.27992662
89UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.27792388
90* SRY_22984422_ChIP-ChIP_TESTIS_Rat1.27671005
91FOXM1_23109430_ChIP-Seq_U2OS_Human1.26974367
92CBX2_27304074_Chip-Seq_ESCs_Mouse1.26900255
93KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.26007765
94CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.25749413
95RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.24480714
96POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.24220473
97CTBP2_25329375_ChIP-Seq_LNCAP_Human1.24145416
98NANOG_18555785_ChIP-Seq_MESCs_Mouse1.23886007
99CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.23747500
100CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.23636871
101ER_23166858_ChIP-Seq_MCF-7_Human1.23361117
102GABP_19822575_ChIP-Seq_HepG2_Human1.22915118
103ESR2_21235772_ChIP-Seq_MCF-7_Human1.22428990
104THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.20946033
105AR_21909140_ChIP-Seq_LNCAP_Human1.20104314
106ESR1_21235772_ChIP-Seq_MCF-7_Human1.19288412
107CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.18254691
108TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.16632338
109P68_20966046_ChIP-Seq_HELA_Human1.15858161
110CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.15164265
111CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.15002032
112RXR_22158963_ChIP-Seq_LIVER_Mouse1.14757349
113ESR1_20079471_ChIP-ChIP_T-47D_Human1.13989734
114BMI1_23680149_ChIP-Seq_NPCS_Mouse1.12742247
115SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.12322625
116SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.12322625
117THAP11_20581084_ChIP-Seq_MESCs_Mouse1.12029827
118ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.11535794
119STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.11397935
120ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.10843912
121P63_26484246_Chip-Seq_KERATINOCYTES_Human1.10825355
122EP300_21415370_ChIP-Seq_HL-1_Mouse1.10229553
123PPARA_22158963_ChIP-Seq_LIVER_Mouse1.10199051
124PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.09763682
125TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.08908567
126RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.08072572
127NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.07141702
128TP53_22127205_ChIP-Seq_IMR90_Human1.06992096
129* CREB1_15753290_ChIP-ChIP_HEK293T_Human1.06828794
130SA1_27219007_Chip-Seq_ERYTHROID_Human1.06759773
131SOX2_20726797_ChIP-Seq_SW620_Human1.06062994
132P300_27058665_Chip-Seq_ZR-75-30cells_Human1.05642386
133TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.04860772
134TFEB_21752829_ChIP-Seq_HELA_Human1.04548929
135CTCF_27219007_Chip-Seq_ERYTHROID_Human1.04515548
136NCOR1_26117541_ChIP-Seq_K562_Human1.03836618
137SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.03231450
138TP53_18474530_ChIP-ChIP_U2OS_Human1.02795521
139P300_19829295_ChIP-Seq_ESCs_Human1.01955078
140ETS1_20019798_ChIP-Seq_JURKAT_Human1.01521340
141MYCN_18555785_ChIP-Seq_MESCs_Mouse1.01453446
142* TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse1.00812496
143* PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.00671831
144ELF1_20517297_ChIP-Seq_JURKAT_Human0.99991907
145UBF1/2_26484160_Chip-Seq_HMECs_Human0.99904727
146POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.99664984
147EOMES_21245162_ChIP-Seq_HESCs_Human0.99482469
148ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.99422538
149NR3C1_23031785_ChIP-Seq_PC12_Mouse0.99235960
150ZNF217_24962896_ChIP-Seq_MCF-7_Human0.99098118
151TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.98717450
152RUNX1_27514584_Chip-Seq_MCF-7_Human0.98604289
153SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.98278060
154ESR1_15608294_ChIP-ChIP_MCF-7_Human0.97968006
155TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.97503066
156DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.96886702
157EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.96058131
158TOP2B_26459242_ChIP-Seq_MCF-7_Human0.94745076
159POU3F2_20337985_ChIP-ChIP_501MEL_Human0.94251427
160TP53_16413492_ChIP-PET_HCT116_Human0.90676293
161RXR_22108803_ChIP-Seq_LS180_Human0.90174355
162WT1_25993318_ChIP-Seq_PODOCYTE_Human0.89935723
163PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.89898687
164REST_21632747_ChIP-Seq_MESCs_Mouse0.89819150
165FOXO3_23340844_ChIP-Seq_DLD1_Human0.89424084
166RING1B_27294783_Chip-Seq_ESCs_Mouse0.89409618
167HTT_18923047_ChIP-ChIP_STHdh_Human0.88824038
168GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.87540458
169TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.87480145
170FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.87396000
171PRDM14_20953172_ChIP-Seq_ESCs_Human0.87282830
172ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.86060214
173NR3C1_21868756_ChIP-Seq_MCF10A_Human0.84401160
174P53_22127205_ChIP-Seq_FIBROBLAST_Human0.83886122
175PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.83456948
176UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.83356785
177TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.83097719
178SOX9_26525672_Chip-Seq_Limbbuds_Mouse0.82693682
179FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.82562496
180AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.81014863
181BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.80534563
182FUS_26573619_Chip-Seq_HEK293_Human0.79854209
183RING1B_27294783_Chip-Seq_NPCs_Mouse0.78884134
184RARB_27405468_Chip-Seq_BRAIN_Mouse0.78824928
185CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.78342750
186LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.78309219
187SOX2_27498859_Chip-Seq_STOMACH_Mouse0.77904019
188EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.76975710
189OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.76888885
190ZNF274_21170338_ChIP-Seq_K562_Hela0.76775048
191TBL1_22424771_ChIP-Seq_293T_Human0.76130215
192GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.75068638
193AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.74444189
194ARNT_22903824_ChIP-Seq_MCF-7_Human0.74260911
195E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.73386341

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000920_abnormal_myelination4.81602783
2MP0010234_abnormal_vibrissa_follicle3.76425356
3MP0003329_amyloid_beta_deposits3.19206578
4MP0003690_abnormal_glial_cell3.17738988
5MP0003705_abnormal_hypodermis_morpholog3.03484001
6MP0003191_abnormal_cellular_cholesterol3.02124475
7MP0002796_impaired_skin_barrier2.95239911
8MP0003136_yellow_coat_color2.68004641
9MP0003950_abnormal_plasma_membrane2.60687673
10MP0003880_abnormal_central_pattern2.58200924
11MP0003566_abnormal_cell_adhesion2.56712773
12MP0004270_analgesia2.52984102
13MP0000462_abnormal_digestive_system2.50118627
14MP0001905_abnormal_dopamine_level2.49333728
15MP0002877_abnormal_melanocyte_morpholog2.46640471
16MP0005257_abnormal_intraocular_pressure2.43105837
17MP0003634_abnormal_glial_cell2.41689475
18MP0004885_abnormal_endolymph2.36289192
19MP0005501_abnormal_skin_physiology2.33948942
20MP0008438_abnormal_cutaneous_collagen2.28186700
21MP0003453_abnormal_keratinocyte_physiol2.15486316
22MP0004264_abnormal_extraembryonic_tissu2.15314411
23MP0004742_abnormal_vestibular_system2.14728393
24MP0001529_abnormal_vocalization2.07245043
25MP0005171_absent_coat_pigmentation2.05021418
26MP0001849_ear_inflammation2.02405268
27MP0002060_abnormal_skin_morphology1.91665864
28MP0002272_abnormal_nervous_system1.86236404
29MP0010030_abnormal_orbit_morphology1.82508205
30MP0001486_abnormal_startle_reflex1.82454117
31MP0000858_altered_metastatic_potential1.79660390
32MP0004142_abnormal_muscle_tone1.75018105
33MP0005023_abnormal_wound_healing1.74655355
34MP0001440_abnormal_grooming_behavior1.74381786
35MP0009780_abnormal_chondrocyte_physiolo1.73099911
36MP0002132_abnormal_respiratory_system1.72918932
37MP0004233_abnormal_muscle_weight1.70270819
38MP0002064_seizures1.69338365
39MP0009384_cardiac_valve_regurgitation1.63886062
40MP0000604_amyloidosis1.63777076
41MP0001485_abnormal_pinna_reflex1.63413684
42MP0001216_abnormal_epidermal_layer1.59451401
43MP0000778_abnormal_nervous_system1.58153878
44MP0004134_abnormal_chest_morphology1.56837415
45MP0003693_abnormal_embryo_hatching1.53559771
46MP0010678_abnormal_skin_adnexa1.53394716
47MP0005058_abnormal_lysosome_morphology1.49385679
48MP0003632_abnormal_nervous_system1.48834212
49MP0003941_abnormal_skin_development1.48276851
50MP0002229_neurodegeneration1.46755497
51MP0001299_abnormal_eye_distance/1.45522703
52MP0003806_abnormal_nucleotide_metabolis1.45378309
53MP0004043_abnormal_pH_regulation1.42696229
54MP0005409_darkened_coat_color1.42501491
55MP0004957_abnormal_blastocyst_morpholog1.40690554
56MP0000383_abnormal_hair_follicle1.39838706
57MP0005451_abnormal_body_composition1.39485975
58MP0004859_abnormal_synaptic_plasticity1.39466612
59MP0002098_abnormal_vibrissa_morphology1.39362019
60MP0000678_abnormal_parathyroid_gland1.37867388
61MP0008875_abnormal_xenobiotic_pharmacok1.36584535
62MP0002295_abnormal_pulmonary_circulatio1.36235863
63MP0001881_abnormal_mammary_gland1.34836318
64MP0005623_abnormal_meninges_morphology1.34646924
65MP0004858_abnormal_nervous_system1.33249846
66MP0005076_abnormal_cell_differentiation1.33175873
67MP0002734_abnormal_mechanical_nocicepti1.33008718
68MP0004272_abnormal_basement_membrane1.29159948
69MP0010352_gastrointestinal_tract_polyps1.27757772
70MP0003635_abnormal_synaptic_transmissio1.26174978
71MP0000490_abnormal_crypts_of1.25073169
72MP0010771_integument_phenotype1.24008942
73MP0001346_abnormal_lacrimal_gland1.22363383
74MP0001664_abnormal_digestion1.21245490
75MP0005083_abnormal_biliary_tract1.18675807
76MP0009745_abnormal_behavioral_response1.18599675
77MP0005423_abnormal_somatic_nervous1.17689509
78MP0000566_synostosis1.17676876
79MP0000537_abnormal_urethra_morphology1.17619525
80MP0000955_abnormal_spinal_cord1.15142440
81MP0000747_muscle_weakness1.15051899
82MP0001970_abnormal_pain_threshold1.13675963
83MP0009046_muscle_twitch1.12446886
84MP0002572_abnormal_emotion/affect_behav1.12319829
85MP0004782_abnormal_surfactant_physiolog1.11600562
86MP0002139_abnormal_hepatobiliary_system1.10006242
87MP0002733_abnormal_thermal_nociception1.09763258
88MP0005275_abnormal_skin_tensile1.09068135
89MP0005360_urolithiasis1.08833348
90MP0009250_abnormal_appendicular_skeleto1.08033576
91MP0003631_nervous_system_phenotype1.06503523
92MP0004924_abnormal_behavior1.06438415
93MP0005386_behavior/neurological_phenoty1.06438415
94MP0003183_abnormal_peptide_metabolism1.06298731
95MP0005165_increased_susceptibility_to1.06206275
96MP0000627_abnormal_mammary_gland1.04168084
97MP0003279_aneurysm1.03734007
98MP0005381_digestive/alimentary_phenotyp1.03404569
99MP0002882_abnormal_neuron_morphology1.02868295
100MP0003868_abnormal_feces_composition1.02732606
101MP0004381_abnormal_hair_follicle1.02416758
102MP0001542_abnormal_bone_strength1.01947942
103MP0000762_abnormal_tongue_morphology1.01841256
104MP0002066_abnormal_motor_capabilities/c1.00888188
105MP0003111_abnormal_nucleus_morphology1.00458931
106MP0000013_abnormal_adipose_tissue1.00447305
107MP0009333_abnormal_splenocyte_physiolog1.00208446
108MP0001963_abnormal_hearing_physiology0.99591595
109MP0000003_abnormal_adipose_tissue0.99395603
110MP0002089_abnormal_postnatal_growth/wei0.98995972
111MP0000647_abnormal_sebaceous_gland0.98973688
112MP0009931_abnormal_skin_appearance0.98275113
113MP0004947_skin_inflammation0.96955598
114MP0002896_abnormal_bone_mineralization0.96830997
115MP0009840_abnormal_foam_cell0.95623061
116MP0005551_abnormal_eye_electrophysiolog0.95059319
117MP0003633_abnormal_nervous_system0.94616153
118MP0005645_abnormal_hypothalamus_physiol0.94305398
119MP0004147_increased_porphyrin_level0.94053811
120MP0001915_intracranial_hemorrhage0.93679933
121MP0002067_abnormal_sensory_capabilities0.93212482
122MP0002736_abnormal_nociception_after0.92744691
123MP0009053_abnormal_anal_canal0.91826007
124MP0001661_extended_life_span0.91611108
125MP0001730_embryonic_growth_arrest0.90302293
126MP0001666_abnormal_nutrient_absorption0.89941917
127MP0002933_joint_inflammation0.88613217
128MP0002254_reproductive_system_inflammat0.88347035
129MP0000358_abnormal_cell_content/0.88278982
130MP0001968_abnormal_touch/_nociception0.87890871
131MP0005410_abnormal_fertilization0.87615068
132MP0003186_abnormal_redox_activity0.86773181
133MP0001958_emphysema0.86149226
134MP0001243_abnormal_dermal_layer0.86129846
135MP0000377_abnormal_hair_follicle0.85791516
136MP0005621_abnormal_cell_physiology0.85514810
137MP0003315_abnormal_perineum_morphology0.85487710
138MP0002063_abnormal_learning/memory/cond0.84948126
139MP0002080_prenatal_lethality0.84871388
140MP0008932_abnormal_embryonic_tissue0.84211623
141MP0004019_abnormal_vitamin_homeostasis0.83284085
142MP0003091_abnormal_cell_migration0.82204658
143MP0002752_abnormal_somatic_nervous0.80768690
144MP0000350_abnormal_cell_proliferation0.79825025
145MP0003300_gastrointestinal_ulcer0.78785002
146MP0000750_abnormal_muscle_regeneration0.77856855
147MP0000026_abnormal_inner_ear0.76503730
148MP0003077_abnormal_cell_cycle0.75800149
149MP0003938_abnormal_ear_development0.75798240
150MP0009672_abnormal_birth_weight0.75597799
151MP0004185_abnormal_adipocyte_glucose0.75463778
152MP0005375_adipose_tissue_phenotype0.74807810
153MP0008007_abnormal_cellular_replicative0.74698727
154MP0001501_abnormal_sleep_pattern0.74420130
155MP0000467_abnormal_esophagus_morphology0.74232399
156MP0005384_cellular_phenotype0.73695966
157MP0000579_abnormal_nail_morphology0.73209821
158MP0008569_lethality_at_weaning0.73065050
159MP0001853_heart_inflammation0.72558044
160MP0003075_altered_response_to0.72185982
161MP0002735_abnormal_chemical_nociception0.71504568
162MP0002086_abnormal_extraembryonic_tissu0.71147963
163MP0003937_abnormal_limbs/digits/tail_de0.71110245
164MP0005197_abnormal_uvea_morphology0.70567421
165MP0005195_abnormal_posterior_eye0.70064244
166MP0005164_abnormal_response_to0.70041098
167MP0003303_peritoneal_inflammation0.69525063
168MP0005365_abnormal_bile_salt0.68888458
169MP0005408_hypopigmentation0.67514971
170MP0003786_premature_aging0.67227422
171MP0005380_embryogenesis_phenotype0.67120449
172MP0001672_abnormal_embryogenesis/_devel0.67120449
173MP0008260_abnormal_autophagy0.66698554
174MP0005379_endocrine/exocrine_gland_phen0.66028218
175MP0003984_embryonic_growth_retardation0.65399863
176MP0005508_abnormal_skeleton_morphology0.65173193
177MP0005503_abnormal_tendon_morphology0.64247418
178MP0001502_abnormal_circadian_rhythm0.64192568
179MP0001727_abnormal_embryo_implantation0.62826497

Predicted human phenotypes

RankGene SetZ-score
1Neurofibrillary tangles (HP:0002185)6.16141715
2Degeneration of the lateral corticospinal tracts (HP:0002314)5.65841303
3Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)5.65841303
4Cerebral inclusion bodies (HP:0100314)4.73280382
5Parakeratosis (HP:0001036)4.51891008
6Abnormality of the corticospinal tract (HP:0002492)4.05417041
7Vertebral compression fractures (HP:0002953)3.72198057
8Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.50904768
9Aplasia involving bones of the extremities (HP:0009825)3.41943321
10Aplasia involving bones of the upper limbs (HP:0009823)3.41943321
11Aplasia of the phalanges of the hand (HP:0009802)3.41943321
12Sensory axonal neuropathy (HP:0003390)3.39310487
13Congenital nonbullous ichthyosiform erythroderma (HP:0007479)3.36391253
14Short nail (HP:0001799)3.34666704
15Peripheral hypomyelination (HP:0007182)3.31892911
16Supranuclear gaze palsy (HP:0000605)3.28120193
17Abnormality of the distal phalanges of the toes (HP:0010182)3.05273075
18Hypoplastic pelvis (HP:0008839)3.03569140
19Megalencephaly (HP:0001355)2.96882396
20Trismus (HP:0000211)2.96368568
21Protrusio acetabuli (HP:0003179)2.94256127
22Premature skin wrinkling (HP:0100678)2.89149637
23Atrophic scars (HP:0001075)2.88634648
24Achilles tendon contracture (HP:0001771)2.83933160
25Epiphyseal dysplasia (HP:0002656)2.73686558
26Chronic bronchitis (HP:0004469)2.71627583
27Spastic paraparesis (HP:0002313)2.70036986
28Congenital ichthyosiform erythroderma (HP:0007431)2.68516348
29Insidious onset (HP:0003587)2.66524576
30Termporal pattern (HP:0011008)2.66524576
31Abnormality of the Achilles tendon (HP:0005109)2.66368368
32Retinal dysplasia (HP:0007973)2.65745867
33Spastic gait (HP:0002064)2.62306593
34Onion bulb formation (HP:0003383)2.62114481
35Cervical subluxation (HP:0003308)2.58293298
36Nasal polyposis (HP:0100582)2.57629135
37Abnormality of the phalanges of the 2nd finger (HP:0009541)2.55227609
38Abnormal respiratory motile cilium physiology (HP:0012261)2.54926215
39Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.53719438
40Distal upper limb amyotrophy (HP:0007149)2.52172938
41Upper limb amyotrophy (HP:0009129)2.52172938
42Sparse eyelashes (HP:0000653)2.51166538
43Humeroradial synostosis (HP:0003041)2.50273359
44Synostosis involving the elbow (HP:0003938)2.50273359
45Premature rupture of membranes (HP:0001788)2.49837613
46Coronal craniosynostosis (HP:0004440)2.49513213
47Akinesia (HP:0002304)2.48607378
48Distal lower limb muscle weakness (HP:0009053)2.47635580
49Fragile nails (HP:0001808)2.47359067
50Autoamputation (HP:0001218)2.46507690
51Barrel-shaped chest (HP:0001552)2.43638063
52Small epiphyses (HP:0010585)2.43229690
53Rhinitis (HP:0012384)2.42958398
54Alacrima (HP:0000522)2.41994688
55Intention tremor (HP:0002080)2.40765349
56Flat acetabular roof (HP:0003180)2.40433243
57Cerebral hypomyelination (HP:0006808)2.38522225
58Thin bony cortex (HP:0002753)2.38128649
59Stridor (HP:0010307)2.36730612
60Abnormality of the middle phalanges of the toes (HP:0010183)2.35993647
61Hand muscle atrophy (HP:0009130)2.34874156
62Rough bone trabeculation (HP:0100670)2.34471912
63Male infertility (HP:0003251)2.34290124
64Right ventricular cardiomyopathy (HP:0011663)2.34167384
65Leukodystrophy (HP:0002415)2.32930646
66Fragile skin (HP:0001030)2.32245673
67Infantile muscular hypotonia (HP:0008947)2.31282350
68Abnormality of liposaccharide metabolism (HP:0010968)2.29541243
69Abnormality of glycosphingolipid metabolism (HP:0004343)2.29541243
70Abnormality of glycolipid metabolism (HP:0010969)2.29541243
71Abnormality of glycolysis (HP:0004366)2.29318628
72Increased serum pyruvate (HP:0003542)2.29318628
73Dysmetria (HP:0001310)2.28586250
74Anteriorly placed anus (HP:0001545)2.27571732
75Clumsiness (HP:0002312)2.26960644
76Abnormality of the nasal mucosa (HP:0000433)2.26512626
77Selective tooth agenesis (HP:0001592)2.25274940
78Onycholysis (HP:0001806)2.25264566
79Abnormal respiratory motile cilium morphology (HP:0005938)2.23118691
80Abnormal respiratory epithelium morphology (HP:0012253)2.23118691
81Abnormality of the umbilical cord (HP:0010881)2.21972305
82Thickened helices (HP:0000391)2.21790113
83Abnormal auditory evoked potentials (HP:0006958)2.20997847
84Osteolytic defects of the hand bones (HP:0009699)2.19316753
85Osteolytic defects of the phalanges of the hand (HP:0009771)2.19316753
86Elbow flexion contracture (HP:0002987)2.19177924
87Split foot (HP:0001839)2.18835495
88Mixed hearing impairment (HP:0000410)2.17883573
89Alopecia of scalp (HP:0002293)2.16493519
90Methylmalonic acidemia (HP:0002912)2.16449610
91Paraparesis (HP:0002385)2.16348634
92Dysostosis multiplex (HP:0000943)2.15808340
93Aplasia/Hypoplasia of the sacrum (HP:0008517)2.14950636
94Vascular calcification (HP:0004934)2.13982056
95Increased circulating renin level (HP:0000848)2.13541020
96Slow saccadic eye movements (HP:0000514)2.12773073
97Hemorrhage of the eye (HP:0011885)2.12540459
98Testicular atrophy (HP:0000029)2.12056062
99Distal lower limb amyotrophy (HP:0008944)2.10859857
100Ankle clonus (HP:0011448)2.09763604
101Abnormality of carpal bone ossification (HP:0006257)2.09268398
102Abnormal trabecular bone morphology (HP:0100671)2.08778629
103Metabolic alkalosis (HP:0200114)2.05912597
104Pili torti (HP:0003777)2.05233094
105Abnormal ciliary motility (HP:0012262)2.03116569
106J-shaped sella turcica (HP:0002680)2.02788641
107Cardiovascular calcification (HP:0011915)2.00748651
108Natal tooth (HP:0000695)2.00229997
109Protuberant abdomen (HP:0001538)1.99084130
110Septate vagina (HP:0001153)1.98244746
111Abnormalities of placenta or umbilical cord (HP:0001194)1.97952587
112Blue sclerae (HP:0000592)1.97276284
113Urinary glycosaminoglycan excretion (HP:0003541)1.96880976
114Mucopolysacchariduria (HP:0008155)1.96880976
115Irregular epiphyses (HP:0010582)1.96719387
116Partial duplication of thumb phalanx (HP:0009944)1.96304107
117Abnormality of the 2nd finger (HP:0004100)1.95167420
118Prolonged neonatal jaundice (HP:0006579)1.95071245
119Deep venous thrombosis (HP:0002625)1.93830896
120Back pain (HP:0003418)1.93533425
121Abnormal delivery (HP:0001787)1.92984428
122Short hallux (HP:0010109)1.92588161
123Nail dystrophy (HP:0008404)1.92555614
124Acute necrotizing encephalopathy (HP:0006965)1.91750348
125Abnormal tarsal ossification (HP:0008369)1.91496608
126Hypoplasia of the iris (HP:0007676)1.89045894
127Cerebral hemorrhage (HP:0001342)1.88611678
128Progressive muscle weakness (HP:0003323)1.88338299
129Reduced subcutaneous adipose tissue (HP:0003758)1.88290048
130Abnormality of the fetal cardiovascular system (HP:0010948)1.88162886
131Abnormal umbilical cord blood vessels (HP:0011403)1.88162886
132Single umbilical artery (HP:0001195)1.88162886
133Renal Fanconi syndrome (HP:0001994)1.87850304
134Type II lissencephaly (HP:0007260)1.87057975
135Adrenal hypoplasia (HP:0000835)1.86699679
136Hypoplastic left heart (HP:0004383)1.85819245
137Abnormality of polysaccharide metabolism (HP:0011012)1.84445521
138Abnormality of glycosaminoglycan metabolism (HP:0004371)1.84445521
139Abnormality of mucopolysaccharide metabolism (HP:0011020)1.84445521
140Decreased lacrimation (HP:0000633)1.81947611
141Abnormality of the vitreous humor (HP:0004327)1.81658767
142Hypokinesia (HP:0002375)1.81633394
143Pterygium (HP:0001059)1.81509102
144Nonimmune hydrops fetalis (HP:0001790)1.81249989
145Abnormality of the acetabulum (HP:0003170)1.80734524
146Ileus (HP:0002595)1.80209748
147Abnormality of monocarboxylic acid metabolism (HP:0010996)1.79692714
148Abnormality of nail color (HP:0100643)1.79135661
149Deviation of the thumb (HP:0009603)1.78918249
150Spinal cord compression (HP:0002176)1.77671605
151Vacuolated lymphocytes (HP:0001922)1.77132237
152Cholecystitis (HP:0001082)1.76887072
153Abnormal gallbladder physiology (HP:0012438)1.76887072
154Flattened epiphyses (HP:0003071)1.76479920
155Abnormal ossification of hand bones (HP:0005921)1.76121126
156Symphalangism affecting the phalanges of the hand (HP:0009773)1.75481046
157Myokymia (HP:0002411)1.75096122
158Pheochromocytoma (HP:0002666)1.74784937
159Breech presentation (HP:0001623)1.74772204
160Arterial tortuosity (HP:0005116)1.73944207
161Absent/shortened dynein arms (HP:0200106)1.73644825
162Dynein arm defect of respiratory motile cilia (HP:0012255)1.73644825
163Abnormal hair laboratory examination (HP:0003328)1.73629590
164Glucose intolerance (HP:0000833)1.73093160
165Sparse lateral eyebrow (HP:0005338)1.72972864
166Aplasia/Hypoplasia of the hallux (HP:0008362)1.72612710
167Broad face (HP:0000283)1.72414666
168Hypoplastic ischia (HP:0003175)1.70348646
169Partial duplication of the phalanx of hand (HP:0009999)1.70034997
170Hypomagnesemia (HP:0002917)1.69953154
171Bone pain (HP:0002653)1.69730956
172Atelectasis (HP:0100750)1.68711860
173Increased connective tissue (HP:0009025)1.67699112
174Generalized amyotrophy (HP:0003700)1.66717044
175Long palpebral fissure (HP:0000637)1.66657945
176Acute encephalopathy (HP:0006846)1.65598699
177Cupped ribs (HP:0000887)1.65475693
178Axonal loss (HP:0003447)1.63421759
179Ulnar bowing (HP:0003031)1.63056209
180Lower limb muscle weakness (HP:0007340)1.62446731
181Abnormality of dentin (HP:0010299)1.61648976
182Hyperlipoproteinemia (HP:0010980)1.60268016
183Relative macrocephaly (HP:0004482)1.60030839
184Neuroendocrine neoplasm (HP:0100634)1.59799589
185Abnormality of the ischium (HP:0003174)1.56661959
186Anomalous pulmonary venous return (HP:0010772)1.56313132
187Progressive macrocephaly (HP:0004481)1.55732939
188Scanning speech (HP:0002168)1.55345147
189Aplasia/Hypoplasia involving the pelvis (HP:0009103)1.55148205
190Muscle fiber splitting (HP:0003555)1.54447795
191Abnormality of binocular vision (HP:0011514)1.53691791
192Diplopia (HP:0000651)1.53691791
193Diminished movement (HP:0002374)1.53319311
194Abnormal vertebral ossification (HP:0100569)1.52162108
195Hepatosplenomegaly (HP:0001433)1.51705925
196Hypokalemic alkalosis (HP:0001949)1.51590194

Predicted kinase interactions (KEA)

RankGene SetZ-score
1STK395.78128169
2EPHA25.03356569
3OXSR13.90322720
4EPHB13.47229863
5NME23.45219733
6TESK13.06916196
7TRIB32.97959022
8IRAK32.97539793
9ERN12.96969202
10SMG12.70785325
11MET2.68205987
12SIK12.50257345
13MAPKAPK52.45787047
14WNK42.42640605
15BCR2.37571926
16TNIK2.29605782
17PBK2.27003772
18MST42.22313926
19PAK42.20331109
20PKN12.16010711
21FGFR22.15024467
22NTRK11.94769062
23LIMK11.91505849
24VRK21.90783574
25FGR1.90272690
26CDK191.85836098
27PIM21.76458882
28CSNK1G31.74756257
29PNCK1.73004493
30TAOK21.61742277
31SCYL21.58203266
32CDK121.55341126
33CSNK1A1L1.51442671
34MAPK151.50168377
35NEK61.50041116
36ICK1.48225913
37UHMK11.48115209
38MAPKAPK31.45352427
39ROCK21.45224751
40CAMK2B1.40019135
41CSNK1G11.37206145
42WNK11.35852495
43CSNK1G21.35166104
44CASK1.34211567
45CAMK2D1.27703618
46PAK31.25190686
47EEF2K1.24406618
48MAP3K31.23997556
49ARAF1.22376085
50BUB11.21753379
51DDR21.19083955
52TYRO31.15781863
53MUSK1.12162609
54RIPK11.11999059
55LATS21.11044053
56TESK21.07208761
57PHKG11.05538855
58PHKG21.05538855
59EPHA41.04798082
60PIK3CA1.03572786
61FGFR41.01589088
62PKN21.01005126
63LRRK20.98344625
64TRPM70.96679527
65NTRK20.93611599
66PAK60.91192157
67CAMK2G0.91187886
68CDK70.91172025
69BRAF0.91035364
70STK100.89737892
71RPS6KB20.89030945
72CAMK2A0.87778103
73CLK10.87057566
74STK240.86268264
75ABL20.85358385
76TBK10.84797022
77IRAK40.84137100
78AURKA0.83278785
79PRKCE0.83140902
80MAP3K120.83058053
81IRAK20.82635462
82PRKCI0.81594251
83PRPF4B0.81151005
84CDK140.81139772
85PRKCQ0.80987529
86STK160.79466635
87ERBB40.78603035
88CDK50.78495708
89MAP3K80.76953646
90PDGFRA0.76424442
91SIK30.76295804
92NME10.75564116
93MAP2K20.75451052
94MARK10.73901873
95ILK0.73138732
96PTK60.72873709
97NEK10.70957138
98DYRK20.70459974
99CDK80.68685835
100PRKD10.68609640
101TTK0.67967977
102MAP3K130.67385322
103SGK4940.66440562
104SGK2230.66440562
105PDK20.65458331
106CDK150.64914514
107MST1R0.64765415
108PRKG20.64143181
109GRK10.62750009
110FYN0.61670067
111PDPK10.61222398
112MTOR0.61016999
113BCKDK0.58828064
114CDK11A0.57764633
115CDK180.56923099
116ZAP700.56625499
117MAP3K90.56239182
118MAP3K110.55415292
119MARK20.54605159
120MYLK0.54506172
121PTK20.53451389
122MAP3K10.52697969
123MAP2K30.52314512
124BMPR1B0.51972024
125IRAK10.51785458
126RPS6KA20.51650020
127MAPK120.51370717
128MAP3K140.50148979
129GSK3A0.49982183
130EPHB20.49741884
131GRK50.49621151
132MAPK110.48704549
133ADRBK20.48269649
134MAP3K100.48234944
135PAK10.47930715
136TTN0.47522013
137PTK2B0.46838722
138RAF10.46622683
139CSK0.46459784
140MOS0.46141370
141DYRK1A0.46106540
142MAP3K20.45075455
143ADRBK10.44821483
144MAPK130.44206762
145KSR20.43887909
146MAPKAPK20.42159936
147PDGFRB0.41903908
148BRSK10.41270335
149CAMK1G0.40839190
150CSNK1A10.40831552
151ITK0.39762452
152ROCK10.39655102
153TAOK10.39634548
154PRKG10.39457922
155KDR0.39405628
156PRKD20.38960740
157LMTK20.38808809
158MAP3K60.38627652
159MAPK70.38586488
160INSR0.38462403
161CSNK1D0.36905955
162EIF2AK10.36640754
163SRPK10.36601491
164PRKCH0.35502878
165AKT20.35236029
166MELK0.34160234
167GRK60.34054001
168SRC0.33453027
169DAPK10.33200020
170AURKB0.32993152
171PAK20.32333013
172PRKCG0.31974497
173CDK60.31870199
174CDK90.31621739
175DMPK0.31225804
176BMX0.29616524

Predicted pathways (KEGG)

RankGene SetZ-score
1Terpenoid backbone biosynthesis_Homo sapiens_hsa009005.02891653
2Steroid biosynthesis_Homo sapiens_hsa001004.50528844
3Fatty acid elongation_Homo sapiens_hsa000623.89244102
4Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.38398377
5Sulfur metabolism_Homo sapiens_hsa009202.80101357
6Ether lipid metabolism_Homo sapiens_hsa005652.70790521
7Protein export_Homo sapiens_hsa030602.63160873
8Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.44205133
9Galactose metabolism_Homo sapiens_hsa000522.28653494
10Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.28115969
11Oxidative phosphorylation_Homo sapiens_hsa001902.27386607
12Sphingolipid metabolism_Homo sapiens_hsa006002.24247687
13Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.21817864
14Glycosaminoglycan degradation_Homo sapiens_hsa005312.21708402
15Fructose and mannose metabolism_Homo sapiens_hsa000512.16298357
16Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.09578671
17Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005202.04889662
18N-Glycan biosynthesis_Homo sapiens_hsa005102.00992025
192-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.96882407
20Pentose phosphate pathway_Homo sapiens_hsa000301.93547260
21Biosynthesis of amino acids_Homo sapiens_hsa012301.91045709
22Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.90592852
23Phenylalanine metabolism_Homo sapiens_hsa003601.86154825
24Bladder cancer_Homo sapiens_hsa052191.82478907
25Proteasome_Homo sapiens_hsa030501.71172650
26Cyanoamino acid metabolism_Homo sapiens_hsa004601.69137197
27Histidine metabolism_Homo sapiens_hsa003401.61552513
28Parkinsons disease_Homo sapiens_hsa050121.58211639
29Alzheimers disease_Homo sapiens_hsa050101.51226011
30Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.49563129
31Butanoate metabolism_Homo sapiens_hsa006501.48089409
32Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.46969510
33DNA replication_Homo sapiens_hsa030301.45730126
34Central carbon metabolism in cancer_Homo sapiens_hsa052301.44072317
35alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.44041498
36Thyroid cancer_Homo sapiens_hsa052161.43422664
37Linoleic acid metabolism_Homo sapiens_hsa005911.43290320
38Vibrio cholerae infection_Homo sapiens_hsa051101.35021920
39Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.33786961
40Arginine and proline metabolism_Homo sapiens_hsa003301.28208645
41Carbon metabolism_Homo sapiens_hsa012001.27230156
42Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.25212026
43Axon guidance_Homo sapiens_hsa043601.25154879
44Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.24234410
45Base excision repair_Homo sapiens_hsa034101.20732181
46Pyrimidine metabolism_Homo sapiens_hsa002401.17219387
47Fatty acid metabolism_Homo sapiens_hsa012121.16694012
48Shigellosis_Homo sapiens_hsa051311.16118570
49Drug metabolism - other enzymes_Homo sapiens_hsa009831.12293269
50Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.09365390
51Pancreatic cancer_Homo sapiens_hsa052121.08862942
52Small cell lung cancer_Homo sapiens_hsa052221.08045568
53Chronic myeloid leukemia_Homo sapiens_hsa052201.05109798
54Arginine biosynthesis_Homo sapiens_hsa002201.03197450
55Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.02375963
56Fatty acid biosynthesis_Homo sapiens_hsa000611.01012437
57Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.00160811
58Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.99368830
59Ribosome_Homo sapiens_hsa030100.98410549
60Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.96724024
61Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.92773979
62Hepatitis C_Homo sapiens_hsa051600.92756874
63ECM-receptor interaction_Homo sapiens_hsa045120.92713555
64Mineral absorption_Homo sapiens_hsa049780.91946745
65SNARE interactions in vesicular transport_Homo sapiens_hsa041300.91602260
66Serotonergic synapse_Homo sapiens_hsa047260.91592862
67Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.91561473
68Sphingolipid signaling pathway_Homo sapiens_hsa040710.90126031
69Pancreatic secretion_Homo sapiens_hsa049720.89616671
70Glutathione metabolism_Homo sapiens_hsa004800.88939537
71Collecting duct acid secretion_Homo sapiens_hsa049660.88685517
72Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.86900772
73GABAergic synapse_Homo sapiens_hsa047270.86333259
74Renal cell carcinoma_Homo sapiens_hsa052110.84001972
75Acute myeloid leukemia_Homo sapiens_hsa052210.83942697
76Long-term depression_Homo sapiens_hsa047300.83562550
77Apoptosis_Homo sapiens_hsa042100.83163205
78Lysosome_Homo sapiens_hsa041420.82832412
79Peroxisome_Homo sapiens_hsa041460.82603455
80Prion diseases_Homo sapiens_hsa050200.81688377
81Propanoate metabolism_Homo sapiens_hsa006400.78837036
82Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.78115244
83Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.77508997
84Proteoglycans in cancer_Homo sapiens_hsa052050.77368880
85Arachidonic acid metabolism_Homo sapiens_hsa005900.77093103
86Glutamatergic synapse_Homo sapiens_hsa047240.76485527
87Huntingtons disease_Homo sapiens_hsa050160.74087332
88Spliceosome_Homo sapiens_hsa030400.73761071
89Cocaine addiction_Homo sapiens_hsa050300.72997393
90Notch signaling pathway_Homo sapiens_hsa043300.72944111
91Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.72892061
92Protein digestion and absorption_Homo sapiens_hsa049740.71846041
93Tight junction_Homo sapiens_hsa045300.70498115
94p53 signaling pathway_Homo sapiens_hsa041150.70116346
95Cardiac muscle contraction_Homo sapiens_hsa042600.69870698
96Fat digestion and absorption_Homo sapiens_hsa049750.69495305
97Glycerophospholipid metabolism_Homo sapiens_hsa005640.69172741
98Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.67507184
99Amoebiasis_Homo sapiens_hsa051460.66268172
100Rheumatoid arthritis_Homo sapiens_hsa053230.65346889
101Adherens junction_Homo sapiens_hsa045200.64623219
102Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.63683967
103Maturity onset diabetes of the young_Homo sapiens_hsa049500.63671512
104Endometrial cancer_Homo sapiens_hsa052130.63648918
105Sulfur relay system_Homo sapiens_hsa041220.63467033
106Nucleotide excision repair_Homo sapiens_hsa034200.63375134
107Malaria_Homo sapiens_hsa051440.62729487
108Non-small cell lung cancer_Homo sapiens_hsa052230.61806862
109Salmonella infection_Homo sapiens_hsa051320.61729467
110Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.60972732
111Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.60409727
112Nitrogen metabolism_Homo sapiens_hsa009100.59949807
113RNA polymerase_Homo sapiens_hsa030200.58725964
114Complement and coagulation cascades_Homo sapiens_hsa046100.58529084
115Pentose and glucuronate interconversions_Homo sapiens_hsa000400.58372120
116Focal adhesion_Homo sapiens_hsa045100.57958273
117Salivary secretion_Homo sapiens_hsa049700.57180191
118Starch and sucrose metabolism_Homo sapiens_hsa005000.56815413
119Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.56805711
120Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.56767816
121Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.56353397
122Cell cycle_Homo sapiens_hsa041100.56352058
123Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.55743375
124Leukocyte transendothelial migration_Homo sapiens_hsa046700.55555958
125Prostate cancer_Homo sapiens_hsa052150.54339023
126Phagosome_Homo sapiens_hsa041450.54163604
127Vitamin digestion and absorption_Homo sapiens_hsa049770.54071915
128Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.53062636
129Metabolic pathways_Homo sapiens_hsa011000.53051902
130Vascular smooth muscle contraction_Homo sapiens_hsa042700.51778525
131Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.51576875
132Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.51116435
133Folate biosynthesis_Homo sapiens_hsa007900.50302379
134Mismatch repair_Homo sapiens_hsa034300.50111075
135Endocytosis_Homo sapiens_hsa041440.49422286
136Gastric acid secretion_Homo sapiens_hsa049710.48992678
137Viral carcinogenesis_Homo sapiens_hsa052030.48279627
138Ras signaling pathway_Homo sapiens_hsa040140.47187801
139PPAR signaling pathway_Homo sapiens_hsa033200.46836040
140Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.46721962
141Ovarian steroidogenesis_Homo sapiens_hsa049130.46571773
142Chemical carcinogenesis_Homo sapiens_hsa052040.46443418
143Hepatitis B_Homo sapiens_hsa051610.45968332
144Phospholipase D signaling pathway_Homo sapiens_hsa040720.45347166
145TNF signaling pathway_Homo sapiens_hsa046680.43890950
146Morphine addiction_Homo sapiens_hsa050320.43110395
147Insulin signaling pathway_Homo sapiens_hsa049100.40284390
148Bile secretion_Homo sapiens_hsa049760.39907643
149Steroid hormone biosynthesis_Homo sapiens_hsa001400.39867522
150Insulin resistance_Homo sapiens_hsa049310.39318300
151Hippo signaling pathway_Homo sapiens_hsa043900.39161595
152Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.38975164
153Vitamin B6 metabolism_Homo sapiens_hsa007500.37601247
154Pyruvate metabolism_Homo sapiens_hsa006200.37334706
155Regulation of actin cytoskeleton_Homo sapiens_hsa048100.37280408
156Tyrosine metabolism_Homo sapiens_hsa003500.36481374
157Fatty acid degradation_Homo sapiens_hsa000710.36196403
158ErbB signaling pathway_Homo sapiens_hsa040120.35440922
159Dopaminergic synapse_Homo sapiens_hsa047280.35034653
160Cysteine and methionine metabolism_Homo sapiens_hsa002700.34873237
161VEGF signaling pathway_Homo sapiens_hsa043700.34679853
162Other glycan degradation_Homo sapiens_hsa005110.33494060
163Epstein-Barr virus infection_Homo sapiens_hsa051690.33325012
164Gap junction_Homo sapiens_hsa045400.33246971
165Glycerolipid metabolism_Homo sapiens_hsa005610.33054967
166RNA transport_Homo sapiens_hsa030130.32817997
167Cholinergic synapse_Homo sapiens_hsa047250.30994150
168Circadian entrainment_Homo sapiens_hsa047130.29734547
169Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.29557492
170beta-Alanine metabolism_Homo sapiens_hsa004100.28754916
171Insulin secretion_Homo sapiens_hsa049110.27566039
172Hedgehog signaling pathway_Homo sapiens_hsa043400.27165651

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