SLC36A2

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 pH-dependent proton-coupled amino acid transporter that belongs to the amino acid auxin permease 1 protein family. The encoded protein primarily transports small amino acids such as glycine, alanine and proline. Mutations in this gene are associated with iminoglycinuria and hyperglycinuria. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1carnitine shuttle (GO:0006853)8.12372757
2fatty acid transmembrane transport (GO:1902001)7.92850215
3biotin metabolic process (GO:0006768)7.75903025
4low-density lipoprotein particle clearance (GO:0034383)7.37028174
5brown fat cell differentiation (GO:0050873)7.23918099
6triglyceride catabolic process (GO:0019433)6.97892656
7tricarboxylic acid cycle (GO:0006099)6.68839158
8fatty acid beta-oxidation (GO:0006635)6.68497338
9white fat cell differentiation (GO:0050872)6.52228041
10carnitine transmembrane transport (GO:1902603)6.46119728
11regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)6.43665294
12regulation of fatty acid oxidation (GO:0046320)6.35594858
13positive regulation of fatty acid oxidation (GO:0046321)6.33871187
14positive regulation of fatty acid beta-oxidation (GO:0032000)6.29404177
15acylglycerol catabolic process (GO:0046464)6.25508820
16neutral lipid catabolic process (GO:0046461)6.25508820
17NADH metabolic process (GO:0006734)6.23713332
18valine metabolic process (GO:0006573)6.21102379
19amino-acid betaine transport (GO:0015838)5.90523209
20carnitine transport (GO:0015879)5.90523209
21lipid particle organization (GO:0034389)5.87359446
22regulation of acyl-CoA biosynthetic process (GO:0050812)5.83370567
23fatty acid oxidation (GO:0019395)5.61031374
24behavioral response to nicotine (GO:0035095)5.60653443
25lipid oxidation (GO:0034440)5.52634376
26fatty acid catabolic process (GO:0009062)5.52268775
27lipid storage (GO:0019915)5.45882587
28regulation of cofactor metabolic process (GO:0051193)5.39984176
29regulation of coenzyme metabolic process (GO:0051196)5.39984176
30regulation of cholesterol storage (GO:0010885)5.34530256
31branched-chain amino acid catabolic process (GO:0009083)5.24285982
32triglyceride biosynthetic process (GO:0019432)5.16071881
33thioester biosynthetic process (GO:0035384)4.96304252
34acyl-CoA biosynthetic process (GO:0071616)4.96304252
35acetyl-CoA metabolic process (GO:0006084)4.95172898
36branched-chain amino acid metabolic process (GO:0009081)4.93871799
37neutral lipid biosynthetic process (GO:0046460)4.91723186
38acylglycerol biosynthetic process (GO:0046463)4.91723186
39regulation of skeletal muscle contraction (GO:0014819)4.79283589
40positive regulation of lipid storage (GO:0010884)4.77121355
41muscle filament sliding (GO:0030049)4.76538638
42actin-myosin filament sliding (GO:0033275)4.76538638
43intracellular lipid transport (GO:0032365)4.75678476
44regulation of fatty acid beta-oxidation (GO:0031998)4.69599710
45tricarboxylic acid metabolic process (GO:0072350)4.60642379
46negative regulation of macrophage derived foam cell differentiation (GO:0010745)4.58153836
47glycerolipid catabolic process (GO:0046503)4.58082226
48regulation of triglyceride catabolic process (GO:0010896)4.47125763
49coenzyme A biosynthetic process (GO:0015937)4.45922420
50succinate metabolic process (GO:0006105)4.44178324
51positive regulation of lipid catabolic process (GO:0050996)4.40769288
52fatty-acyl-CoA biosynthetic process (GO:0046949)4.40592363
53quaternary ammonium group transport (GO:0015697)4.31557802
54regulation of sulfur metabolic process (GO:0042762)4.25738788
55sarcoplasmic reticulum calcium ion transport (GO:0070296)4.23547402
56fatty-acyl-CoA metabolic process (GO:0035337)4.21745136
57monocarboxylic acid catabolic process (GO:0072329)4.17776089
58negative regulation of lipid storage (GO:0010888)4.10516339
59kynurenine metabolic process (GO:0070189)4.02431581
60regulation of relaxation of muscle (GO:1901077)3.95899729
61actin-mediated cell contraction (GO:0070252)3.95006719
62triglyceride metabolic process (GO:0006641)3.93284307
63regulation of lipid storage (GO:0010883)3.89318351
64DNA deamination (GO:0045006)3.88588826
65ubiquinone biosynthetic process (GO:0006744)3.86736620
66positive regulation of fatty acid metabolic process (GO:0045923)3.84915753
67regulation of glucokinase activity (GO:0033131)3.82369922
68regulation of hexokinase activity (GO:1903299)3.82369922
69carnitine metabolic process (GO:0009437)3.79912414
70L-fucose catabolic process (GO:0042355)3.79509487
71fucose catabolic process (GO:0019317)3.79509487
72L-fucose metabolic process (GO:0042354)3.79509487
73long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)3.78696746
74cardiolipin metabolic process (GO:0032048)3.78099905
75skeletal muscle contraction (GO:0003009)3.77951716
76short-chain fatty acid metabolic process (GO:0046459)3.77301685
77long-chain fatty acid transport (GO:0015909)3.75441541
78long-chain fatty-acyl-CoA metabolic process (GO:0035336)3.70648330
79acylglycerol metabolic process (GO:0006639)3.69168354
80cellular ketone body metabolic process (GO:0046950)3.65893426
81neutral lipid metabolic process (GO:0006638)3.63509082
82coenzyme A metabolic process (GO:0015936)3.59382478
83ubiquinone metabolic process (GO:0006743)3.55779848
84cellular lipid catabolic process (GO:0044242)3.54971013
85lysine catabolic process (GO:0006554)3.51491079
86lysine metabolic process (GO:0006553)3.51491079
87NADPH regeneration (GO:0006740)3.50435240
88pentose-phosphate shunt (GO:0006098)3.48633758
892-oxoglutarate metabolic process (GO:0006103)3.48103164
90ovulation from ovarian follicle (GO:0001542)3.45688060
91regulation of fatty acid metabolic process (GO:0019217)3.45417798
92cytidine deamination (GO:0009972)3.43504772
93cytidine metabolic process (GO:0046087)3.43504772
94cytidine catabolic process (GO:0006216)3.43504772
95indole-containing compound catabolic process (GO:0042436)3.43101668
96indolalkylamine catabolic process (GO:0046218)3.43101668
97tryptophan catabolic process (GO:0006569)3.43101668
98acyl-CoA metabolic process (GO:0006637)3.43005314
99thioester metabolic process (GO:0035383)3.43005314
100alpha-linolenic acid metabolic process (GO:0036109)3.41084917
101fatty acid homeostasis (GO:0055089)3.38855408
102positive regulation of triglyceride metabolic process (GO:0090208)3.37573900
103plasma lipoprotein particle clearance (GO:0034381)3.36491642
104cellular response to lithium ion (GO:0071285)3.35459320
105glycerol metabolic process (GO:0006071)3.32612288
106regulation of triglyceride metabolic process (GO:0090207)3.31804877
107regulation of triglyceride biosynthetic process (GO:0010866)3.31747670
108regulation of macrophage derived foam cell differentiation (GO:0010743)3.28820675
109ketone body metabolic process (GO:1902224)3.23574017
110oxaloacetate metabolic process (GO:0006107)3.23070624
111indolalkylamine metabolic process (GO:0006586)3.23046305
112fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.20701996
113cellular response to zinc ion (GO:0071294)3.17850860
114negative regulation of fatty acid biosynthetic process (GO:0045717)3.14114471
115pyrimidine ribonucleoside catabolic process (GO:0046133)3.13054566
116detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.11969693
117mitochondrial respiratory chain complex I assembly (GO:0032981)3.11713001
118NADH dehydrogenase complex assembly (GO:0010257)3.11713001
119mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.11713001
120fatty acid transport (GO:0015908)3.11110231
121synaptic transmission, cholinergic (GO:0007271)3.11105492
122regulation of lipid catabolic process (GO:0050994)3.10164856
123phosphatidic acid biosynthetic process (GO:0006654)3.09234602
124phosphatidic acid metabolic process (GO:0046473)3.09234602
125neuronal action potential propagation (GO:0019227)3.05799304
126quinone biosynthetic process (GO:1901663)3.05018223
127response to pheromone (GO:0019236)3.03608871
128membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.02510755
129negative regulation of cytosolic calcium ion concentration (GO:0051481)3.01709048
130response to cold (GO:0009409)3.00879973
131mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.00692658
132neuromuscular synaptic transmission (GO:0007274)2.99080487
133response to stimulus involved in regulation of muscle adaptation (GO:0014874)2.98974944
134cellular response to ATP (GO:0071318)2.98890084
135neuronal action potential (GO:0019228)2.98380287
136response to dietary excess (GO:0002021)2.98238790
137water-soluble vitamin biosynthetic process (GO:0042364)2.97679334
138negative regulation of protein autophosphorylation (GO:0031953)2.95440867
139piRNA metabolic process (GO:0034587)2.95312559
140positive regulation of cellular response to insulin stimulus (GO:1900078)2.95212260
141positive regulation of glycolytic process (GO:0045821)2.95171312
142protein heterotrimerization (GO:0070208)2.95099639
143auditory receptor cell stereocilium organization (GO:0060088)2.94709588
144protein complex biogenesis (GO:0070271)2.94520785
145CDP-diacylglycerol biosynthetic process (GO:0016024)2.94445198
146platelet dense granule organization (GO:0060155)2.94402573
147response to inactivity (GO:0014854)2.93992885
148myotube cell development (GO:0014904)2.90086621
149response to muscle activity (GO:0014850)2.89540717
150tryptophan metabolic process (GO:0006568)2.87601988
151protein polyglutamylation (GO:0018095)2.86953122
152gamma-aminobutyric acid transport (GO:0015812)2.82393744
153regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)2.81092652
154preassembly of GPI anchor in ER membrane (GO:0016254)2.80647716
155detection of light stimulus involved in sensory perception (GO:0050962)2.79571781
156detection of light stimulus involved in visual perception (GO:0050908)2.79571781
157negative regulation of telomere maintenance (GO:0032205)2.78668160
158skeletal muscle fiber development (GO:0048741)2.78593434
159respiratory chain complex IV assembly (GO:0008535)2.76637229
160regulation of action potential (GO:0098900)2.76097697
161positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.73417242
162mitochondrial respiratory chain complex assembly (GO:0033108)2.72933333
163dopamine transport (GO:0015872)2.71642924
164sulfation (GO:0051923)2.71381486
165membrane depolarization during action potential (GO:0086010)2.70741882
166striated muscle contraction (GO:0006941)2.69459112
167cAMP catabolic process (GO:0006198)2.68402912
168myofibril assembly (GO:0030239)2.68162574
169positive regulation of sodium ion transmembrane transport (GO:1902307)2.67809340
170positive regulation of mitochondrial fission (GO:0090141)2.63420687
171indole-containing compound metabolic process (GO:0042430)2.63218219
172regulation of cell communication by electrical coupling (GO:0010649)2.59803240
173epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.58744361
174axoneme assembly (GO:0035082)2.57082083
175negative regulation of reactive oxygen species metabolic process (GO:2000378)2.54389501
176electron transport chain (GO:0022900)2.54181227
177reflex (GO:0060004)2.53865914
178somite development (GO:0061053)2.53769681
179muscle fiber development (GO:0048747)2.53059511
180mannosylation (GO:0097502)2.52180586
181protein-cofactor linkage (GO:0018065)2.52016748
182neural tube formation (GO:0001841)2.51025565
183inositol phosphate catabolic process (GO:0071545)2.50957947
184L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.50820572
185male meiosis I (GO:0007141)2.48796437
186protein K11-linked deubiquitination (GO:0035871)2.47244168
187respiratory electron transport chain (GO:0022904)2.46545975
188primary amino compound metabolic process (GO:1901160)2.45663135
189skeletal muscle adaptation (GO:0043501)2.45148041
190sarcomere organization (GO:0045214)2.42379910
191cyclic nucleotide catabolic process (GO:0009214)2.41927236
192creatine metabolic process (GO:0006600)2.40243335
193inner ear receptor stereocilium organization (GO:0060122)2.39001875
194DNA methylation involved in gamete generation (GO:0043046)2.38036068
195action potential (GO:0001508)2.37857149
196plasma membrane repair (GO:0001778)2.37648539
197regulation of sequestering of triglyceride (GO:0010889)10.4538162

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse7.40887511
2CLOCK_20551151_ChIP-Seq_293T_Human4.07170897
3ZNF274_21170338_ChIP-Seq_K562_Hela3.71714116
4EZH2_22144423_ChIP-Seq_EOC_Human3.41441259
5ESR1_17901129_ChIP-ChIP_LIVER_Mouse3.36568311
6VDR_22108803_ChIP-Seq_LS180_Human3.07700820
7GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse3.00450037
8GBX2_23144817_ChIP-Seq_PC3_Human2.92151989
9GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.85451829
10RXR_22158963_ChIP-Seq_LIVER_Mouse2.68646938
11FLI1_27457419_Chip-Seq_LIVER_Mouse2.61753069
12IGF1R_20145208_ChIP-Seq_DFB_Human2.54284475
13ZFP57_27257070_Chip-Seq_ESCs_Mouse2.49745054
14PPARA_22158963_ChIP-Seq_LIVER_Mouse2.46956224
15LXR_22158963_ChIP-Seq_LIVER_Mouse2.44216726
16RARG_19884340_ChIP-ChIP_MEFs_Mouse2.31229403
17TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.24749940
18STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.23627129
19POU3F2_20337985_ChIP-ChIP_501MEL_Human2.21595531
20NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.15552483
21PPARG_20176806_ChIP-Seq_3T3-L1_Mouse2.14681225
22GATA1_22025678_ChIP-Seq_K562_Human2.13609208
23ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.10863406
24PCGF2_27294783_Chip-Seq_ESCs_Mouse2.06803852
25CTBP2_25329375_ChIP-Seq_LNCAP_Human2.02946383
26PPARG_19300518_ChIP-PET_3T3-L1_Mouse15.6994681
27TAF15_26573619_Chip-Seq_HEK293_Human1.99127612
28FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.95026836
29ER_23166858_ChIP-Seq_MCF-7_Human1.94974844
30PPARG_20887899_ChIP-Seq_3T3-L1_Mouse1.94001857
31* FUS_26573619_Chip-Seq_HEK293_Human1.91912050
32CTBP1_25329375_ChIP-Seq_LNCAP_Human1.87345362
33ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.86197637
34ZNF263_19887448_ChIP-Seq_K562_Human1.83364368
35P300_19829295_ChIP-Seq_ESCs_Human1.80928022
36PPAR_26484153_Chip-Seq_NCI-H1993_Human1.80239440
37TRIM28_21343339_ChIP-Seq_HEK293_Human1.80039056
38EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.79979614
39HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.72656501
40EWS_26573619_Chip-Seq_HEK293_Human1.71734482
41PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.71573003
42PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.69350587
43NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.68901063
44CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.67524474
45BP1_19119308_ChIP-ChIP_Hs578T_Human1.65214847
46TP63_17297297_ChIP-ChIP_HaCaT_Human1.62957728
47SUZ12_27294783_Chip-Seq_NPCs_Mouse1.57743234
48CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.57246748
49TBX20_22080862_ChIP-Seq_HEART_Mouse1.56657367
50TBX20_22328084_ChIP-Seq_HEART_Mouse1.56657367
51IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.54573771
52CBP_20019798_ChIP-Seq_JUKART_Human1.54573771
53TP53_22573176_ChIP-Seq_HFKS_Human1.54223229
54STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.48269830
55E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.47638337
56UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.47626532
57CBX2_27304074_Chip-Seq_ESCs_Mouse1.46797806
58EZH2_27294783_Chip-Seq_NPCs_Mouse1.45728470
59ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.43141913
60NFE2_27457419_Chip-Seq_LIVER_Mouse1.42895107
61PCGF2_27294783_Chip-Seq_NPCs_Mouse1.41490604
62TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.41392231
63MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.39846692
64PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.39582023
65* AR_25329375_ChIP-Seq_VCAP_Human1.38669778
66SMAD4_21799915_ChIP-Seq_A2780_Human1.38044219
67BMI1_23680149_ChIP-Seq_NPCS_Mouse1.37906475
68IRF8_22096565_ChIP-ChIP_GC-B_Human1.37786006
69Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.37374891
70AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.37314888
71TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.36640484
72* SOX2_19829295_ChIP-Seq_ESCs_Human1.36628225
73* NANOG_19829295_ChIP-Seq_ESCs_Human1.36628225
74SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.34209162
75STAT3_23295773_ChIP-Seq_U87_Human1.34033836
76TOP2B_26459242_ChIP-Seq_MCF-7_Human1.33063479
77EP300_21415370_ChIP-Seq_HL-1_Mouse1.32862057
78TCF4_23295773_ChIP-Seq_U87_Human1.32591196
79NR3C1_21868756_ChIP-Seq_MCF10A_Human1.32340374
80* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.32175768
81BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.31950785
82IRF1_19129219_ChIP-ChIP_H3396_Human1.31392142
83ESR1_20079471_ChIP-ChIP_T-47D_Human1.30501487
84GATA2_21666600_ChIP-Seq_HMVEC_Human1.30426513
85MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.30350140
86CRX_20693478_ChIP-Seq_RETINA_Mouse1.29336792
87NOTCH1_21737748_ChIP-Seq_TLL_Human1.29127701
88KLF5_20875108_ChIP-Seq_MESCs_Mouse1.27503409
89GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.24440329
90PIAS1_25552417_ChIP-Seq_VCAP_Human1.23867053
91CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.23255079
92MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.21930198
93AR_21572438_ChIP-Seq_LNCaP_Human1.20792633
94PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.20743728
95* SMAD4_21741376_ChIP-Seq_EPCs_Human1.19258407
96FOXA1_27270436_Chip-Seq_PROSTATE_Human1.19069002
97FOXA1_25329375_ChIP-Seq_VCAP_Human1.19069002
98* SMAD3_21741376_ChIP-Seq_EPCs_Human1.17688798
99GABP_17652178_ChIP-ChIP_JURKAT_Human1.17129935
100SALL1_21062744_ChIP-ChIP_HESCs_Human1.16320706
101HOXB7_26014856_ChIP-Seq_BT474_Human1.15284520
102MYC_18940864_ChIP-ChIP_HL60_Human1.15212974
103FLI1_21867929_ChIP-Seq_TH2_Mouse1.15181865
104TCF4_22108803_ChIP-Seq_LS180_Human1.13356059
105P53_22387025_ChIP-Seq_ESCs_Mouse1.12799874
106NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.12698440
107REST_21632747_ChIP-Seq_MESCs_Mouse1.11951904
108RNF2_27304074_Chip-Seq_NSC_Mouse1.11420231
109SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.11206721
110NCOR_22424771_ChIP-Seq_293T_Human1.10586228
111PRDM14_20953172_ChIP-Seq_ESCs_Human1.10348606
112CDX2_19796622_ChIP-Seq_MESCs_Mouse1.08849592
113AR_20517297_ChIP-Seq_VCAP_Human1.08310919
114* FOXA1_21572438_ChIP-Seq_LNCaP_Human1.07830734
115EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.07830281
116OCT4_21477851_ChIP-Seq_ESCs_Mouse1.07431777
117MYB_21317192_ChIP-Seq_ERMYB_Mouse1.06234097
118AUTS2_25519132_ChIP-Seq_293T-REX_Human1.05081425
119IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.04917489
120NANOG_18555785_Chip-Seq_ESCs_Mouse1.04624416
121SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.04242386
122STAT3_18555785_Chip-Seq_ESCs_Mouse1.04090058
123HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.02862054
124PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.02670111
125HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.02571081
126ETV2_25802403_ChIP-Seq_MESCs_Mouse1.01738573
127TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.00846346
128FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.00555509
129* RUNX2_22187159_ChIP-Seq_PCA_Human1.00305021
130CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.99694639
131TCF7L2_21901280_ChIP-Seq_H4IIE_Rat0.99579813
132SRF_21415370_ChIP-Seq_HL-1_Mouse0.99472765
133TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98663054
134POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.98663054
135TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.98138902
136KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human0.97755951
137CDX2_22108803_ChIP-Seq_LS180_Human0.97150573
138HIF1A_21447827_ChIP-Seq_MCF-7_Human0.97024639
139FOXH1_21741376_ChIP-Seq_EPCs_Human0.96759037
140CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.96626023
141E2F1_18555785_Chip-Seq_ESCs_Mouse0.95958025
142NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.95193442
143SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.94588055
144* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse0.94251752
145PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.91452841
146STAT6_20620947_ChIP-Seq_CD4_POS_T_Human0.91302196
147CJUN_26792858_Chip-Seq_BT549_Human0.91186934
148FOXO3_23340844_ChIP-Seq_DLD1_Human0.89896330
149IRF8_21731497_ChIP-ChIP_J774_Mouse0.88837552
150GATA1_19941826_ChIP-Seq_K562_Human0.88219595
151CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.88061632
152THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.87714507
153* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse0.87014718
154RUNX_20019798_ChIP-Seq_JUKART_Human0.84593688
155PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.84340829
156EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.83691896
157KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.82655244
158* VDR_24787735_ChIP-Seq_THP-1_Human0.82322768
159RXR_22108803_ChIP-Seq_LS180_Human0.81983068
160P63_26484246_Chip-Seq_KERATINOCYTES_Human0.78811847
161SOX9_24532713_ChIP-Seq_HFSC_Mouse0.78495755
162RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.78243260
163GATA4_21415370_ChIP-Seq_HL-1_Mouse0.76975859
164GATA2_19941826_ChIP-Seq_K562_Human0.76762629
165NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.75523371
166NRF2_20460467_ChIP-Seq_MEFs_Mouse0.75523371
167SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.75507736
168NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.75087631
169FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.72224538
170ESR2_21235772_ChIP-Seq_MCF-7_Human0.70469412
171CTNNB1_20460455_ChIP-Seq_HCT116_Human0.68120382
172FOXA2_19822575_ChIP-Seq_HepG2_Human0.67915579
173SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.67808802
174BCAT_22108803_ChIP-Seq_LS180_Human0.65471951
175TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.64538758
176* BRD4_27068464_Chip-Seq_AML-cells_Mouse0.64034594
177RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.63126157
178ELK3_25401928_ChIP-Seq_HUVEC_Human0.61102435
179ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.61009931
180SPI1_23127762_ChIP-Seq_K562_Human0.59650922
181IRF8_27001747_Chip-Seq_BMDM_Mouse0.59403802
182JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.59336169
183P300_27058665_Chip-Seq_ZR-75-30cells_Human0.59014932
184SOX2_20726797_ChIP-Seq_SW620_Human0.58346083
185CEBPB_22108803_ChIP-Seq_LS180_Human0.57856332
186SPI1_20517297_ChIP-Seq_HL60_Human0.57656546
187KDM2B_26808549_Chip-Seq_SUP-B15_Human0.56804463
188GATA3_24758297_ChIP-Seq_MCF-7_Human0.55596767
189JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.55074615
190GATA3_21878914_ChIP-Seq_MCF-7_Human0.54607763
191SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.51581560
192CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.51497917
193SALL4_18804426_ChIP-ChIP_XEN_Mouse0.51222430
194NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.50297771
195RACK7_27058665_Chip-Seq_MCF-7_Human0.50067639
196GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.49159596

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005670_abnormal_white_adipose7.88652745
2MP0005666_abnormal_adipose_tissue5.62140026
3MP0004145_abnormal_muscle_electrophysio5.35642355
4MP0004130_abnormal_muscle_cell5.14636477
5MP0004185_abnormal_adipocyte_glucose4.94763036
6MP0005375_adipose_tissue_phenotype3.89685521
7MP0002971_abnormal_brown_adipose3.74228760
8MP0002837_dystrophic_cardiac_calcinosis3.63319110
9MP0008438_abnormal_cutaneous_collagen3.24648068
10MP0003646_muscle_fatigue3.13511846
11MP0009115_abnormal_fat_cell2.60240681
12MP0000003_abnormal_adipose_tissue2.54690196
13MP0003195_calcinosis2.54050933
14MP0000013_abnormal_adipose_tissue2.49454138
15MP0005535_abnormal_body_temperature2.39442491
16MP0010329_abnormal_lipoprotein_level2.38831878
17MP0005334_abnormal_fat_pad2.25020885
18MP0002970_abnormal_white_adipose2.22036065
19MP0008877_abnormal_DNA_methylation2.20067932
20MP0006036_abnormal_mitochondrial_physio2.11952489
21MP0002102_abnormal_ear_morphology2.03059636
22MP0002118_abnormal_lipid_homeostasis2.02212055
23MP0005275_abnormal_skin_tensile2.00123092
24MP0004043_abnormal_pH_regulation1.99081795
25MP0005551_abnormal_eye_electrophysiolog1.92830097
26MP0000372_irregular_coat_pigmentation1.91269863
27MP0003191_abnormal_cellular_cholesterol1.90247061
28MP0002876_abnormal_thyroid_physiology1.84992282
29MP0004142_abnormal_muscle_tone1.83178658
30MP0003724_increased_susceptibility_to1.78529368
31MP0008775_abnormal_heart_ventricle1.77536472
32MP0001968_abnormal_touch/_nociception1.74082485
33MP0008872_abnormal_physiological_respon1.68092286
34MP0005330_cardiomyopathy1.67345599
35MP0006138_congestive_heart_failure1.60297974
36MP0000751_myopathy1.59284328
37MP0000343_altered_response_to1.58601324
38MP0009046_muscle_twitch1.58010059
39MP0005448_abnormal_energy_balance1.54256310
40MP0004272_abnormal_basement_membrane1.52009689
41MP0006072_abnormal_retinal_apoptosis1.51869211
42MP0005385_cardiovascular_system_phenoty1.50517532
43MP0001544_abnormal_cardiovascular_syste1.50517532
44MP0006276_abnormal_autonomic_nervous1.48681910
45MP0005253_abnormal_eye_physiology1.48463909
46MP0001986_abnormal_taste_sensitivity1.48140947
47MP0001661_extended_life_span1.43475255
48MP0003011_delayed_dark_adaptation1.43370855
49MP0008875_abnormal_xenobiotic_pharmacok1.42248781
50MP0004087_abnormal_muscle_fiber1.41930792
51MP0009745_abnormal_behavioral_response1.41896112
52MP0002078_abnormal_glucose_homeostasis1.41788163
53MP0004215_abnormal_myocardial_fiber1.40973898
54MP0003186_abnormal_redox_activity1.39869088
55MP0002272_abnormal_nervous_system1.39361933
56MP0003828_pulmonary_edema1.39332542
57MP0000747_muscle_weakness1.38241279
58MP0003959_abnormal_lean_body1.37412295
59MP0001501_abnormal_sleep_pattern1.36595696
60MP0003880_abnormal_central_pattern1.34729973
61MP0005452_abnormal_adipose_tissue1.33826895
62MP0003690_abnormal_glial_cell1.31509335
63MP0002332_abnormal_exercise_endurance1.30685116
64MP0000609_abnormal_liver_physiology1.29588570
65MP0002972_abnormal_cardiac_muscle1.25645886
66MP0001485_abnormal_pinna_reflex1.25135273
67MP0004084_abnormal_cardiac_muscle1.24712255
68MP0003221_abnormal_cardiomyocyte_apopto1.24632320
69MP0004885_abnormal_endolymph1.24083062
70MP0002736_abnormal_nociception_after1.23580701
71MP0001984_abnormal_olfaction1.22643313
72MP0001879_abnormal_lymphatic_vessel1.21117758
73MP0005620_abnormal_muscle_contractility1.20380977
74MP0005646_abnormal_pituitary_gland1.19901272
75MP0000750_abnormal_muscle_regeneration1.17628946
76MP0000749_muscle_degeneration1.14224968
77MP0005584_abnormal_enzyme/coenzyme_acti1.14035015
78MP0000427_abnormal_hair_cycle1.11712880
79MP0002138_abnormal_hepatobiliary_system1.11586877
80MP0003705_abnormal_hypodermis_morpholog1.09787590
81MP0004270_analgesia1.09674123
82MP0010630_abnormal_cardiac_muscle1.08442325
83MP0004036_abnormal_muscle_relaxation1.03927153
84MP0005332_abnormal_amino_acid1.03319003
85MP0001486_abnormal_startle_reflex1.02036383
86MP0003566_abnormal_cell_adhesion1.01371587
87MP0004133_heterotaxia1.00184720
88MP0000569_abnormal_digit_pigmentation0.99124825
89MP0002166_altered_tumor_susceptibility0.97889905
90MP0000759_abnormal_skeletal_muscle0.97387034
91MP0002064_seizures0.97264594
92MP0002234_abnormal_pharynx_morphology0.96684718
93MP0005084_abnormal_gallbladder_morpholo0.96436919
94MP0002734_abnormal_mechanical_nocicepti0.95954474
95MP0001853_heart_inflammation0.95388607
96MP0003136_yellow_coat_color0.94745260
97MP0000631_abnormal_neuroendocrine_gland0.93536388
98MP0002733_abnormal_thermal_nociception0.93150021
99MP0004085_abnormal_heartbeat0.92972724
100MP0003787_abnormal_imprinting0.91531128
101MP0002067_abnormal_sensory_capabilities0.90424266
102MP0002572_abnormal_emotion/affect_behav0.89845034
103MP0001881_abnormal_mammary_gland0.89828302
104MP0005365_abnormal_bile_salt0.88338329
105MP0002653_abnormal_ependyma_morphology0.87907696
106MP0005319_abnormal_enzyme/_coenzyme0.87694608
107MP0004924_abnormal_behavior0.87476083
108MP0005386_behavior/neurological_phenoty0.87476083
109MP0008961_abnormal_basal_metabolism0.86788407
110MP0001529_abnormal_vocalization0.84946495
111MP0001970_abnormal_pain_threshold0.84894838
112MP0002160_abnormal_reproductive_system0.83923235
113MP0002822_catalepsy0.82964420
114MP0002928_abnormal_bile_duct0.82622108
115MP0005389_reproductive_system_phenotype0.82596060
116MP0004147_increased_porphyrin_level0.80761472
117MP0003950_abnormal_plasma_membrane0.80686991
118MP0008995_early_reproductive_senescence0.80258160
119MP0004484_altered_response_of0.80134248
120MP0002277_abnormal_respiratory_mucosa0.79391094
121MP0001905_abnormal_dopamine_level0.79240170
122MP0002557_abnormal_social/conspecific_i0.77408584
123MP0003948_abnormal_gas_homeostasis0.77130841
124MP0002106_abnormal_muscle_physiology0.76883991
125MP0005164_abnormal_response_to0.74959292
126MP0002909_abnormal_adrenal_gland0.74199121
127MP0002163_abnormal_gland_morphology0.74187818
128MP0002006_tumorigenesis0.73565842
129MP0003045_fibrosis0.72659870
130MP0002735_abnormal_chemical_nociception0.72519979
131MP0003953_abnormal_hormone_level0.72297652
132MP0002127_abnormal_cardiovascular_syste0.72208911
133MP0005410_abnormal_fertilization0.71936261
134MP0009780_abnormal_chondrocyte_physiolo0.71470567
135MP0003635_abnormal_synaptic_transmissio0.70347847
136MP0006292_abnormal_olfactory_placode0.68773853
137MP0004742_abnormal_vestibular_system0.68599196
138MP0009643_abnormal_urine_homeostasis0.67368407
139MP0000230_abnormal_systemic_arterial0.66915996
140MP0002060_abnormal_skin_morphology0.66795272
141MP0003279_aneurysm0.66707614
142MP0001727_abnormal_embryo_implantation0.64955498
143MP0002998_abnormal_bone_remodeling0.60483348
144MP0005369_muscle_phenotype0.60077656
145MP0002295_abnormal_pulmonary_circulatio0.59362447
146MP0005058_abnormal_lysosome_morphology0.58980338
147MP0001533_abnormal_skeleton_physiology0.57602775
148MP0001764_abnormal_homeostasis0.57385577
149MP0000249_abnormal_blood_vessel0.57004427
150MP0009763_increased_sensitivity_to0.56998794
151MP0001756_abnormal_urination0.56428493
152MP0004782_abnormal_surfactant_physiolog0.53398560
153MP0005266_abnormal_metabolism0.53157279
154MP0001958_emphysema0.52659707
155MP0005167_abnormal_blood-brain_barrier0.51977965
156MP0005645_abnormal_hypothalamus_physiol0.51359151
157MP0002269_muscular_atrophy0.50323835
158MP0005595_abnormal_vascular_smooth0.48139920
159MP0002168_other_aberrant_phenotype0.47471438
160MP0002638_abnormal_pupillary_reflex0.46805998
161MP0003137_abnormal_impulse_conducting0.45029563
162MP0002108_abnormal_muscle_morphology0.44246174
163MP0006035_abnormal_mitochondrial_morpho0.44224036
164MP0005376_homeostasis/metabolism_phenot0.42935802

Predicted human phenotypes

RankGene SetZ-score
1Muscle fiber inclusion bodies (HP:0100299)6.31907682
2Nemaline bodies (HP:0003798)6.23028635
3Myoglobinuria (HP:0002913)6.06019993
4Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)5.99943722
5Abnormality of fatty-acid metabolism (HP:0004359)5.81999601
6Hypoglycemic coma (HP:0001325)5.75676408
7Oligomenorrhea (HP:0000876)5.74886164
8Dicarboxylic aciduria (HP:0003215)5.19433944
9Abnormality of dicarboxylic acid metabolism (HP:0010995)5.19433944
10Rhabdomyolysis (HP:0003201)5.16837058
11Increased muscle lipid content (HP:0009058)5.01275100
12Acanthosis nigricans (HP:0000956)4.99391047
13Hypertriglyceridemia (HP:0002155)4.83156634
14Hepatic necrosis (HP:0002605)4.53341735
15* Hyperglycinuria (HP:0003108)4.36325787
16Abnormality of long-chain fatty-acid metabolism (HP:0010964)4.30452008
17Exercise-induced muscle cramps (HP:0003710)4.22664167
18Nausea (HP:0002018)4.19021446
19Muscle hypertrophy of the lower extremities (HP:0008968)4.18714751
20Generalized aminoaciduria (HP:0002909)4.18177826
21Difficulty running (HP:0009046)4.08397290
22Type 1 muscle fiber predominance (HP:0003803)3.82798377
23Ketoacidosis (HP:0001993)3.81561347
24Calf muscle hypertrophy (HP:0008981)3.77458997
25Insulin-resistant diabetes mellitus (HP:0000831)3.76096898
26Hyperammonemia (HP:0001987)3.73549357
27Pancreatic cysts (HP:0001737)3.66511362
28* Abnormality of glycine metabolism (HP:0010895)3.55343701
29* Abnormality of serine family amino acid metabolism (HP:0010894)3.55343701
30Bone cyst (HP:0012062)3.53134702
31Renal cortical cysts (HP:0000803)3.48384572
32Ketosis (HP:0001946)3.45567338
33Molar tooth sign on MRI (HP:0002419)3.31725701
34Abnormality of midbrain morphology (HP:0002418)3.31725701
35Increased connective tissue (HP:0009025)3.28869504
36Congenital stationary night blindness (HP:0007642)3.27084573
37Pancreatic fibrosis (HP:0100732)3.19287427
38Multiple enchondromatosis (HP:0005701)3.18234450
39Distal arthrogryposis (HP:0005684)3.17633225
40Exercise-induced myalgia (HP:0003738)3.13641026
41Long foot (HP:0001833)3.10571805
42Hyperglycinemia (HP:0002154)3.10557119
43Abnormality of pyruvate family amino acid metabolism (HP:0010915)3.10157839
44Abnormality of alanine metabolism (HP:0010916)3.10157839
45Hyperalaninemia (HP:0003348)3.10157839
46Lipoatrophy (HP:0100578)3.05792997
47True hermaphroditism (HP:0010459)3.04477751
48Nephronophthisis (HP:0000090)2.99883683
49Hepatocellular necrosis (HP:0001404)2.97047247
50Facial diplegia (HP:0001349)2.91311444
51Acute encephalopathy (HP:0006846)2.90426813
52Abnormality of the renal cortex (HP:0011035)2.84083902
53Conjunctival hamartoma (HP:0100780)2.81426269
54Limb hypertonia (HP:0002509)2.78813385
55Muscle stiffness (HP:0003552)2.78253351
56Cerebral edema (HP:0002181)2.77200697
57Methylmalonic aciduria (HP:0012120)2.74771712
58Abnormal mitochondria in muscle tissue (HP:0008316)2.73997214
59Proximal tubulopathy (HP:0000114)2.71847287
60Abnormality of glycolysis (HP:0004366)2.68670204
61Increased serum pyruvate (HP:0003542)2.68670204
62Absent phalangeal crease (HP:0006109)2.68555546
63Lactic acidosis (HP:0003128)2.66598073
64Type II lissencephaly (HP:0007260)2.66209230
65Rimmed vacuoles (HP:0003805)2.64794237
66Myopathic facies (HP:0002058)2.64162686
67Reduced subcutaneous adipose tissue (HP:0003758)2.61632486
68Muscle fiber splitting (HP:0003555)2.61624934
69Growth hormone excess (HP:0000845)2.58528342
70Abnormality of the renal medulla (HP:0100957)2.56385823
71Insulin resistance (HP:0000855)2.55055054
72Palpitations (HP:0001962)2.54926569
73Large hands (HP:0001176)2.52319716
74Hypoalphalipoproteinemia (HP:0003233)2.52168343
75Increased intramyocellular lipid droplets (HP:0012240)2.49890593
76Large for gestational age (HP:0001520)2.48842347
77Lethargy (HP:0001254)2.48400459
78Myotonia (HP:0002486)2.45832562
79Acute necrotizing encephalopathy (HP:0006965)2.44339734
80Esophageal neoplasm (HP:0100751)2.43392897
81Neoplasm of head and neck (HP:0012288)2.43392897
82Neonatal death (HP:0003811)2.40293572
83Abnormal finger flexion creases (HP:0006143)2.38856541
84Abnormality of the calf musculature (HP:0001430)2.38156449
85Prenatal maternal abnormality (HP:0002686)2.37029581
86Pigmentary retinal degeneration (HP:0001146)2.35069087
87EMG: myopathic abnormalities (HP:0003458)2.34126500
88Pancreatitis (HP:0001733)2.32833503
89Sudden death (HP:0001699)2.31125264
90Vomiting (HP:0002013)2.30919452
91Dilated cardiomyopathy (HP:0001644)2.29317127
92Abnormal drinking behavior (HP:0030082)2.28596031
93Polydipsia (HP:0001959)2.28596031
94Respiratory failure (HP:0002878)2.27445637
95Inability to walk (HP:0002540)2.27089959
96Medial flaring of the eyebrow (HP:0010747)2.26307945
97Decreased activity of mitochondrial respiratory chain (HP:0008972)2.24755530
98Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.24755530
99Abolished electroretinogram (ERG) (HP:0000550)2.24454974
100Methylmalonic acidemia (HP:0002912)2.23239907
101Attenuation of retinal blood vessels (HP:0007843)2.21992671
102Abnormal cartilage morphology (HP:0002763)2.21688670
103Increased CSF lactate (HP:0002490)2.21188235
104Epidermoid cyst (HP:0200040)2.19773796
105Progressive macrocephaly (HP:0004481)2.18940958
106Tachypnea (HP:0002789)2.17422213
107Ventricular tachycardia (HP:0004756)2.17348767
108Ulnar deviation of the wrist (HP:0003049)2.16860233
109Tubular atrophy (HP:0000092)2.16105394
110Hemorrhage of the eye (HP:0011885)2.15808935
111Congenital, generalized hypertrichosis (HP:0004540)2.15687544
112Progressive inability to walk (HP:0002505)2.15363550
113Hyporeflexia of lower limbs (HP:0002600)2.14652756
114Cystic liver disease (HP:0006706)2.14389483
115Abnormality of serum amino acid levels (HP:0003112)2.13988580
116Increased variability in muscle fiber diameter (HP:0003557)2.13912300
1173-Methylglutaconic aciduria (HP:0003535)2.13791079
118Tetraparesis (HP:0002273)2.12978702
119Hamartoma of the eye (HP:0010568)2.11906622
120Round ear (HP:0100830)2.11281213
121Hyperventilation (HP:0002883)2.11042105
122Pheochromocytoma (HP:0002666)2.08712217
123Metabolic acidosis (HP:0001942)2.07885440
124Neonatal hypoglycemia (HP:0001998)2.07258916
125Complement deficiency (HP:0004431)2.06685848
126Neoplasm of the adrenal gland (HP:0100631)2.03465959
127Pendular nystagmus (HP:0012043)2.03414395
128Autoimmune thrombocytopenia (HP:0001973)2.01770177
129Abnormal rod and cone electroretinograms (HP:0008323)2.01210602
130Toxemia of pregnancy (HP:0100603)2.01001320
131Lipid accumulation in hepatocytes (HP:0006561)2.00412900
132Mitochondrial inheritance (HP:0001427)1.99858750
133Severe muscular hypotonia (HP:0006829)1.98918856
134Cerebral hemorrhage (HP:0001342)1.98699867
135Decreased central vision (HP:0007663)1.97492807
136Broad metatarsal (HP:0001783)1.96172183
137Exercise intolerance (HP:0003546)1.96122984
138Skin nodule (HP:0200036)1.94703799
139Decreased circulating renin level (HP:0003351)1.93861056
140Respiratory distress (HP:0002098)1.92384085
141Frequent falls (HP:0002359)1.92130721
142Hyperkalemia (HP:0002153)1.91827483
143Broad-based gait (HP:0002136)1.90619943
144Optic disc pallor (HP:0000543)1.90094523
145Areflexia of lower limbs (HP:0002522)1.89207470
146Furrowed tongue (HP:0000221)1.88533678
147Polyuria (HP:0000103)1.88313150
148Chronic hepatic failure (HP:0100626)1.87395784
149Athetosis (HP:0002305)1.87211482
150Abnormality of skeletal muscle fiber size (HP:0012084)1.87175740
151Aplasia/Hypoplasia of the tibia (HP:0005772)1.86747539
152Neck muscle weakness (HP:0000467)1.85611608
153Sclerocornea (HP:0000647)1.84954375
154Increased corneal curvature (HP:0100692)1.84278158
155Keratoconus (HP:0000563)1.84278158
156Type 2 muscle fiber atrophy (HP:0003554)1.84157520
157Subcapsular cataract (HP:0000523)1.83638871
158Hypokalemia (HP:0002900)1.80276440
159Abnormality of the vocal cords (HP:0008777)1.79538441
160Right ventricular cardiomyopathy (HP:0011663)1.79213688
161Abnormal biliary tract physiology (HP:0012439)1.79022855
162Bile duct proliferation (HP:0001408)1.79022855
163Generalized muscle weakness (HP:0003324)1.77750786
164Hypothermia (HP:0002045)1.75267183
165Absent rod-and cone-mediated responses on ERG (HP:0007688)1.75240592
166Aplasia/Hypoplasia of the tongue (HP:0010295)1.74627823
167Increased hepatocellular lipid droplets (HP:0006565)1.74298355
168Congenital hepatic fibrosis (HP:0002612)1.74022882
169Bundle branch block (HP:0011710)1.70492206
170Increased serum lactate (HP:0002151)1.68864696
171Abnormality of potassium homeostasis (HP:0011042)1.67663233
172Gait imbalance (HP:0002141)1.67414015
173Left ventricular hypertrophy (HP:0001712)1.66832205
174Lissencephaly (HP:0001339)1.66475343
175Chorioretinal atrophy (HP:0000533)1.66363369
176Cerebellar dysplasia (HP:0007033)1.66046948

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CAMK1D6.02024018
2BCKDK5.24177125
3TRIB35.14649455
4PDK34.60472817
5PDK44.60472817
6CAMK1G4.15975753
7SIK13.18027374
8PDK23.05930421
9ADRBK22.69207912
10BMPR1B2.62217638
11WNK32.58943365
12MAP4K22.32362626
13GRK12.26508171
14LMTK22.19338996
15PRKAA22.09743300
16TIE12.09571717
17TAOK32.05257697
18TXK2.03975132
19OXSR11.94091766
20WNK41.88850806
21MST1R1.84569995
22ACVR1B1.78116381
23TLK11.74336906
24MAPK131.71636300
25TTN1.66514990
26NUAK11.64333281
27ERN11.61983181
28RIPK11.59022213
29PIK3CG1.51988814
30MAP3K41.49115375
31INSRR1.44775890
32TGFBR21.40477218
33MUSK1.37389534
34IRAK31.37065926
35PKN21.35566718
36DAPK21.35187437
37TNIK1.31782240
38FGFR31.29322921
39NME11.27891625
40CDK91.27381651
41MYLK1.23781191
42MARK11.20909335
43STK391.19921115
44MAP2K61.14887501
45JAK11.13597102
46PRKAA11.11287851
47PDPK11.10224211
48PINK11.09930790
49PHKG21.09290719
50PHKG11.09290719
51PIK3CA1.05611716
52NEK91.05201321
53CASK0.94329323
54CDK60.93904458
55PDK10.91519886
56PDGFRA0.91065576
57MAP2K70.90397533
58EPHB20.89395346
59TRIM280.87983454
60MAP2K10.86723279
61MAP3K70.86607832
62PNCK0.84358237
63ADRBK10.84115607
64PAK30.83875381
65MKNK20.79730295
66ERBB30.77958483
67ILK0.75799349
68NEK10.73371190
69PRKACG0.73020045
70JAK20.71932306
71FLT30.71409343
72MAP2K40.70653362
73FGFR20.70489383
74PRKCH0.69493914
75DYRK20.66717865
76FGFR40.66330791
77EIF2AK20.66041196
78CAMK2A0.64596002
79LATS10.63291967
80PRKCE0.63206640
81PRKCG0.62682361
82FRK0.62621629
83JAK30.62510162
84PRKD10.60443025
85PRKD30.60059295
86MAP3K60.58891269
87VRK10.58867090
88MAP2K30.57911872
89PRKCQ0.56077211
90VRK20.54632710
91MAPKAPK50.54075497
92TEC0.53130013
93IKBKB0.51460946
94IGF1R0.50134285
95PLK20.49860907
96CAMK10.49617462
97OBSCN0.49494531
98MET0.49281306
99CDK40.49064049
100PRKG10.48784099
101PTK2B0.48713249
102CSNK1G20.48368314
103ABL20.47751659
104TGFBR10.47732783
105LIMK10.47398598
106MAPK110.47139723
107PRKG20.47115747
108GSK3A0.47033224
109MAPK150.45409713
110CSNK1G10.44605202
111TBK10.44471324
112MAP2K20.43750893
113DDR20.43580063
114CDK190.43448671
115CSNK1G30.43292502
116EPHB10.42414712
117TRPM70.42304495
118MAPK120.41789689
119MTOR0.41214339
120NLK0.39233870
121IRAK10.38882814
122IRAK20.38248243
123CAMK40.37740050
124AKT30.36514891
125KIT0.36470488
126BMX0.36450204
127CAMKK20.36183916
128CSNK1A10.35499177
129TYK20.35355088
130PDGFRB0.34203241
131STK30.34151238
132CAMK2D0.34081944
133STK110.34017293
134STK160.33400062
135SGK30.32901028
136STK240.32164666
137RPS6KB10.32141477
138STK38L0.32134392
139LATS20.31496381
140CAMK2G0.31401651
141BCR0.31090710
142EPHA30.31082087
143PLK40.30304876
144MAP3K30.29569558
145RPS6KA50.29536897
146INSR0.29004070
147PRKACB0.28780917
148CSNK1A1L0.27850379
149CSK0.27349295
150PRKCA0.27250302
151RET0.26679936
152RPS6KA60.26150261
153NME20.25908935
154AKT10.24548891
155CCNB10.24373034
156EIF2AK30.24261486
157RPS6KC10.24122075
158RPS6KL10.24122075
159NTRK30.23897102
160BRSK20.23714064
161TNK20.23628451
162MAP3K140.22806825
163CSNK1D0.22575778
164ABL10.22574772
165SGK20.21999870
166DMPK0.21534426
167ZAK0.19999510
168SRC0.19522834
169MAPK40.19409502
170KDR0.18161082
171PRKACA0.17984218
172PKN10.15707176
173MAPKAPK30.15517210

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000205.88203536
2Propanoate metabolism_Homo sapiens_hsa006405.50370676
3Fatty acid metabolism_Homo sapiens_hsa012124.20762181
4Fatty acid degradation_Homo sapiens_hsa000714.09614956
5Fatty acid biosynthesis_Homo sapiens_hsa000614.04816498
6Valine, leucine and isoleucine degradation_Homo sapiens_hsa002804.02268895
7PPAR signaling pathway_Homo sapiens_hsa033203.92897988
82-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.48813863
9Regulation of lipolysis in adipocytes_Homo sapiens_hsa049233.08196306
10Phototransduction_Homo sapiens_hsa047442.64147560
11Pyruvate metabolism_Homo sapiens_hsa006202.59823106
12Carbon metabolism_Homo sapiens_hsa012002.46165507
13Linoleic acid metabolism_Homo sapiens_hsa005912.36725529
14Fatty acid elongation_Homo sapiens_hsa000622.28215287
15Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.26872845
16Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.23622503
17Glycerolipid metabolism_Homo sapiens_hsa005612.13267048
18beta-Alanine metabolism_Homo sapiens_hsa004101.86935036
19Adipocytokine signaling pathway_Homo sapiens_hsa049201.79158638
20Maturity onset diabetes of the young_Homo sapiens_hsa049501.76158429
21Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.67703988
22Butanoate metabolism_Homo sapiens_hsa006501.65980499
23Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.65280586
24Circadian rhythm_Homo sapiens_hsa047101.58129522
25AMPK signaling pathway_Homo sapiens_hsa041521.51287111
26Protein export_Homo sapiens_hsa030601.50556521
27Nicotine addiction_Homo sapiens_hsa050331.48672209
28Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.47785385
29Peroxisome_Homo sapiens_hsa041461.45475517
30Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.44503822
31Ether lipid metabolism_Homo sapiens_hsa005651.42479510
32RNA polymerase_Homo sapiens_hsa030201.36396466
33Calcium signaling pathway_Homo sapiens_hsa040201.31856778
34Selenocompound metabolism_Homo sapiens_hsa004501.29096438
35Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.24927334
36Olfactory transduction_Homo sapiens_hsa047401.24898501
37Basal transcription factors_Homo sapiens_hsa030221.23645046
38Homologous recombination_Homo sapiens_hsa034401.23509172
39Insulin resistance_Homo sapiens_hsa049311.14269547
40Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.11986083
41Fat digestion and absorption_Homo sapiens_hsa049751.11442192
42Tryptophan metabolism_Homo sapiens_hsa003801.07880266
43RNA degradation_Homo sapiens_hsa030181.05553965
44Oxidative phosphorylation_Homo sapiens_hsa001901.04173416
45Parkinsons disease_Homo sapiens_hsa050121.03422988
46Insulin secretion_Homo sapiens_hsa049111.02406990
47Morphine addiction_Homo sapiens_hsa050321.02356786
48Chemical carcinogenesis_Homo sapiens_hsa052041.01892854
49Regulation of autophagy_Homo sapiens_hsa041401.00513018
50Insulin signaling pathway_Homo sapiens_hsa049100.99778883
51Taste transduction_Homo sapiens_hsa047420.99778713
52Glucagon signaling pathway_Homo sapiens_hsa049220.98663332
53Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.97121891
54Fanconi anemia pathway_Homo sapiens_hsa034600.96701244
55Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.91577815
56Circadian entrainment_Homo sapiens_hsa047130.91179114
57Arginine and proline metabolism_Homo sapiens_hsa003300.88339070
58Oxytocin signaling pathway_Homo sapiens_hsa049210.85282512
59Alzheimers disease_Homo sapiens_hsa050100.81006271
60Primary immunodeficiency_Homo sapiens_hsa053400.80915739
61Proteasome_Homo sapiens_hsa030500.80068587
62Serotonergic synapse_Homo sapiens_hsa047260.80003481
63Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.78851883
64Purine metabolism_Homo sapiens_hsa002300.76235696
65Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.76196033
66Intestinal immune network for IgA production_Homo sapiens_hsa046720.73864914
67Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.72767222
68Caffeine metabolism_Homo sapiens_hsa002320.72560173
69GABAergic synapse_Homo sapiens_hsa047270.72242177
70Pentose phosphate pathway_Homo sapiens_hsa000300.71645035
71Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.70182422
72One carbon pool by folate_Homo sapiens_hsa006700.70147553
73Glycerophospholipid metabolism_Homo sapiens_hsa005640.69890885
74Histidine metabolism_Homo sapiens_hsa003400.68648388
75Nitrogen metabolism_Homo sapiens_hsa009100.67104776
76Lysine degradation_Homo sapiens_hsa003100.66114425
77Huntingtons disease_Homo sapiens_hsa050160.66053042
78Steroid hormone biosynthesis_Homo sapiens_hsa001400.65683224
79Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.62931367
80Sulfur relay system_Homo sapiens_hsa041220.61898128
81Retinol metabolism_Homo sapiens_hsa008300.61544941
82Biosynthesis of amino acids_Homo sapiens_hsa012300.60624520
83Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.59583014
84Phenylalanine metabolism_Homo sapiens_hsa003600.59097074
85Vitamin B6 metabolism_Homo sapiens_hsa007500.58763965
86Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.58434206
87Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.58386016
88Starch and sucrose metabolism_Homo sapiens_hsa005000.58137497
89Longevity regulating pathway - mammal_Homo sapiens_hsa042110.57920204
90Staphylococcus aureus infection_Homo sapiens_hsa051500.57796873
91ECM-receptor interaction_Homo sapiens_hsa045120.54630794
92Cardiac muscle contraction_Homo sapiens_hsa042600.54417875
93Gastric acid secretion_Homo sapiens_hsa049710.53667639
94Collecting duct acid secretion_Homo sapiens_hsa049660.52724698
95Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.50833571
96Glutamatergic synapse_Homo sapiens_hsa047240.49297893
97Renin secretion_Homo sapiens_hsa049240.48635335
98Tyrosine metabolism_Homo sapiens_hsa003500.47994932
99Cysteine and methionine metabolism_Homo sapiens_hsa002700.47850800
100Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.46823568
101Central carbon metabolism in cancer_Homo sapiens_hsa052300.46778928
102Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.45786096
103Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.42485066
104Long-term depression_Homo sapiens_hsa047300.42419050
105Dilated cardiomyopathy_Homo sapiens_hsa054140.41823988
106Viral myocarditis_Homo sapiens_hsa054160.41522002
107Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.40043260
108Fructose and mannose metabolism_Homo sapiens_hsa000510.37906879
109HIF-1 signaling pathway_Homo sapiens_hsa040660.37552210
110Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.37343580
111Sulfur metabolism_Homo sapiens_hsa009200.32717538
112Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.32122280
113Metabolic pathways_Homo sapiens_hsa011000.31177852
114Type II diabetes mellitus_Homo sapiens_hsa049300.30216701
115Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.29036658
116ABC transporters_Homo sapiens_hsa020100.25293711
117Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.25121986
118Focal adhesion_Homo sapiens_hsa045100.24678927
119Galactose metabolism_Homo sapiens_hsa000520.24607822
120Protein digestion and absorption_Homo sapiens_hsa049740.22874851
121Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.21420643
122Arachidonic acid metabolism_Homo sapiens_hsa005900.18577052
123Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.18572012
124Lysosome_Homo sapiens_hsa041420.17332192
125alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.17281010
126cGMP-PKG signaling pathway_Homo sapiens_hsa040220.15775960
127Acute myeloid leukemia_Homo sapiens_hsa052210.13975839
128Complement and coagulation cascades_Homo sapiens_hsa046100.13695559
129Glutathione metabolism_Homo sapiens_hsa004800.13488151
130Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.13372853
131Ovarian steroidogenesis_Homo sapiens_hsa049130.12924380
132Amoebiasis_Homo sapiens_hsa051460.12286244
133Autoimmune thyroid disease_Homo sapiens_hsa053200.11365117
134Toxoplasmosis_Homo sapiens_hsa051450.11162112
135Malaria_Homo sapiens_hsa051440.11132138
136Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.07584786
137Small cell lung cancer_Homo sapiens_hsa052220.06966352
138AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.06345762
139Osteoclast differentiation_Homo sapiens_hsa043800.05764508
140Platelet activation_Homo sapiens_hsa046110.05727431
141cAMP signaling pathway_Homo sapiens_hsa040240.05542142
142Primary bile acid biosynthesis_Homo sapiens_hsa001200.04610246
143Pentose and glucuronate interconversions_Homo sapiens_hsa000400.04454109
144PI3K-Akt signaling pathway_Homo sapiens_hsa041510.03729852
145Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.03373588
146Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.03318389
147mTOR signaling pathway_Homo sapiens_hsa041500.03088948
148Thyroid cancer_Homo sapiens_hsa052160.02875326
149Legionellosis_Homo sapiens_hsa051340.02606251
150Arginine biosynthesis_Homo sapiens_hsa002200.01515742
151Glycosaminoglycan degradation_Homo sapiens_hsa005310.01266095
152Proteoglycans in cancer_Homo sapiens_hsa052050.00530279
153Jak-STAT signaling pathway_Homo sapiens_hsa046300.00182653
154Vascular smooth muscle contraction_Homo sapiens_hsa04270-0.0263523
155Salivary secretion_Homo sapiens_hsa04970-0.0245913

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