KARSP2

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of cholesterol esterification (GO:0010872)8.25807916
2plasma lipoprotein particle assembly (GO:0034377)8.02874653
3negative regulation of fibrinolysis (GO:0051918)7.65504307
4protein carboxylation (GO:0018214)7.23379684
5peptidyl-glutamic acid carboxylation (GO:0017187)7.23379684
6protein-lipid complex assembly (GO:0065005)7.20127505
7regulation of fibrinolysis (GO:0051917)7.11297082
8very-low-density lipoprotein particle assembly (GO:0034379)6.93266545
9cholesterol efflux (GO:0033344)6.86364560
10high-density lipoprotein particle remodeling (GO:0034375)6.84991654
11phospholipid efflux (GO:0033700)6.76015963
12regulation of protein activation cascade (GO:2000257)6.74177323
13plasma lipoprotein particle remodeling (GO:0034369)6.50796414
14protein-lipid complex remodeling (GO:0034368)6.50796414
15macromolecular complex remodeling (GO:0034367)6.50796414
16reverse cholesterol transport (GO:0043691)6.39001476
17regulation of complement activation (GO:0030449)6.29518181
18intestinal cholesterol absorption (GO:0030299)6.04574866
19blood coagulation, intrinsic pathway (GO:0007597)5.92655750
20plasma lipoprotein particle clearance (GO:0034381)5.81323446
21plasma lipoprotein particle organization (GO:0071827)5.78230581
22low-density lipoprotein particle remodeling (GO:0034374)5.77264548
23negative regulation of cholesterol transport (GO:0032375)5.70168773
24negative regulation of sterol transport (GO:0032372)5.70168773
25triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.48264135
26protein-lipid complex subunit organization (GO:0071825)5.46710565
27negative regulation of lipase activity (GO:0060192)5.44072427
28L-phenylalanine catabolic process (GO:0006559)5.43802174
29erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)5.43802174
30regulation of plasminogen activation (GO:0010755)5.07689010
31complement activation, alternative pathway (GO:0006957)5.07446397
32L-phenylalanine metabolic process (GO:0006558)5.00986053
33erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)5.00986053
34regulation of bile acid biosynthetic process (GO:0070857)4.92073775
35phospholipid homeostasis (GO:0055091)4.72711952
36negative regulation of protein activation cascade (GO:2000258)4.63279890
37intestinal absorption (GO:0050892)4.62807247
38triglyceride homeostasis (GO:0070328)4.62069109
39acylglycerol homeostasis (GO:0055090)4.62069109
40glyoxylate metabolic process (GO:0046487)4.47934638
41fibrinolysis (GO:0042730)4.47519758
42cholesterol homeostasis (GO:0042632)4.37507450
43regulation of cytokine secretion involved in immune response (GO:0002739)4.31684643
44sterol homeostasis (GO:0055092)4.31463820
45positive regulation of triglyceride lipase activity (GO:0061365)4.28858504
46positive regulation of lipoprotein lipase activity (GO:0051006)4.28858504
47lipoprotein metabolic process (GO:0042157)4.26165753
48cholesterol transport (GO:0030301)4.22936320
49sterol transport (GO:0015918)4.22936320
50regulation of apoptotic cell clearance (GO:2000425)4.21669392
51positive regulation of heterotypic cell-cell adhesion (GO:0034116)4.06435351
52negative regulation of hemostasis (GO:1900047)3.97311497
53negative regulation of blood coagulation (GO:0030195)3.97311497
54positive regulation of steroid metabolic process (GO:0045940)3.85173251
55negative regulation of complement activation (GO:0045916)3.77440235
56bile acid metabolic process (GO:0008206)3.76948188
57bile acid biosynthetic process (GO:0006699)3.76151126
58urea metabolic process (GO:0019627)3.73813323
59acute-phase response (GO:0006953)3.73179797
60diacylglycerol metabolic process (GO:0046339)3.68986930
61protein activation cascade (GO:0072376)3.67684765
62proline metabolic process (GO:0006560)3.67507072
63positive regulation of blood coagulation (GO:0030194)3.66572387
64positive regulation of hemostasis (GO:1900048)3.66572387
65regulation of humoral immune response (GO:0002920)3.64337830
66negative regulation of coagulation (GO:0050819)3.62163903
67peptidyl-glutamic acid modification (GO:0018200)3.55126323
68negative regulation of wound healing (GO:0061045)3.54146168
69urea cycle (GO:0000050)3.52424561
70negative regulation of sodium ion transport (GO:0010766)3.52349708
71regulation of heterotypic cell-cell adhesion (GO:0034114)3.50428875
72epoxygenase P450 pathway (GO:0019373)3.45256470
73regulation of triglyceride catabolic process (GO:0010896)3.44960169
74lipid homeostasis (GO:0055088)3.42637703
75glutamate metabolic process (GO:0006536)3.40285774
76aromatic amino acid family catabolic process (GO:0009074)3.37539459
77positive regulation of coagulation (GO:0050820)3.37455230
78nitrogen cycle metabolic process (GO:0071941)3.36593001
79regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)3.33166151
80L-ascorbic acid metabolic process (GO:0019852)3.31790669
81serine family amino acid catabolic process (GO:0009071)3.30968164
82fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.22966834
83regulation of cholesterol homeostasis (GO:2000188)3.21751915
84positive regulation of extracellular matrix organization (GO:1903055)3.21057977
85acylglycerol catabolic process (GO:0046464)3.18783671
86neutral lipid catabolic process (GO:0046461)3.18783671
87phenylpropanoid metabolic process (GO:0009698)3.18472672
88cellular glucuronidation (GO:0052695)3.16861365
89positive regulation of fatty acid biosynthetic process (GO:0045723)3.16828228
90ethanol oxidation (GO:0006069)3.14151248
91regulation of sterol transport (GO:0032371)3.09508845
92regulation of cholesterol transport (GO:0032374)3.09508845
93glucuronate metabolic process (GO:0019585)3.06972511
94uronic acid metabolic process (GO:0006063)3.06972511
95complement activation, classical pathway (GO:0006958)3.04861656
96response to vitamin A (GO:0033189)3.00112791
97acute inflammatory response (GO:0002526)2.96179818
98cysteine metabolic process (GO:0006534)2.93827190
99drug catabolic process (GO:0042737)2.93561952
100glycine metabolic process (GO:0006544)2.93343696

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse5.91849091
2EGR1_23403033_ChIP-Seq_LIVER_Mouse5.32801312
3PPARA_22158963_ChIP-Seq_LIVER_Mouse5.14101432
4LXR_22158963_ChIP-Seq_LIVER_Mouse4.96631146
5FOXA2_19822575_ChIP-Seq_HepG2_Human4.03427565
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse3.99150233
7FOXO1_23066095_ChIP-Seq_LIVER_Mouse3.41971710
8HNF4A_19761587_ChIP-ChIP_CACO-2_Human3.35653994
9HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse3.26077181
10CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.20081785
11NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.14347876
12HNF4A_19822575_ChIP-Seq_HepG2_Human3.14157769
13PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.88805155
14GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.68321873
15THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.51893402
16PRDM5_23873026_ChIP-Seq_MEFs_Mouse2.33764800
17ESR1_15608294_ChIP-ChIP_MCF-7_Human2.33106037
18CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.27858029
19CHD7_19251738_ChIP-ChIP_MESCs_Mouse2.03611819
20ESR1_17901129_ChIP-ChIP_LIVER_Mouse10.0151378
21TCF4_18268006_ChIP-ChIP_LS174T_Human1.75213585
22GATA4_25053715_ChIP-Seq_YYC3_Human1.67583009
23SALL4_18804426_ChIP-ChIP_XEN_Mouse1.65489763
24TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.64963309
25ESR1_20079471_ChIP-ChIP_T-47D_Human1.62988026
26HIF1A_21447827_ChIP-Seq_MCF-7_Human1.60614238
27PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.57479517
28TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.56918837
29CDX2_20551321_ChIP-Seq_CACO-2_Human1.52931690
30CLOCK_20551151_ChIP-Seq_293T_Human1.51917122
31CDX2_19796622_ChIP-Seq_MESCs_Mouse1.49699157
32E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.47859181
33FOXO3_23340844_ChIP-Seq_DLD1_Human1.47170930
34ZNF263_19887448_ChIP-Seq_K562_Human1.36951669
35ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.28444189
36TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.25695225
37FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.20814731
38SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.09671149
39PCGF2_27294783_Chip-Seq_NPCs_Mouse1.06330641
40RXRA_24833708_ChIP-Seq_LIVER_Mouse1.05593766
41FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.02393062
42PCGF2_27294783_Chip-Seq_ESCs_Mouse1.01869329
43SOX2_27498859_Chip-Seq_STOMACH_Mouse1.01110171
44GATA6_25053715_ChIP-Seq_YYC3_Human0.99197466
45NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.98955227
46SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.93248821
47NFE2_27457419_Chip-Seq_LIVER_Mouse0.88800290
48EOMES_21245162_ChIP-Seq_HESCs_Human0.87610171
49KLF5_20875108_ChIP-Seq_MESCs_Mouse0.85722043
50EZH2_27294783_Chip-Seq_NPCs_Mouse0.85605370
51KAP1_22055183_ChIP-Seq_ESCs_Mouse0.84943213
52SMAD1_18555785_Chip-Seq_ESCs_Mouse0.84851208
53GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.82263896
54NFIB_24661679_ChIP-Seq_LUNG_Mouse0.82216320
55ESR2_21235772_ChIP-Seq_MCF-7_Human0.80183952
56CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.79006912
57NANOG_19829295_ChIP-Seq_ESCs_Human0.76514845
58SOX2_19829295_ChIP-Seq_ESCs_Human0.76514845
59RARG_19884340_ChIP-ChIP_MEFs_Mouse0.76376926
60FLI1_27457419_Chip-Seq_LIVER_Mouse0.76190739
61MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.76140632
62SOX17_20123909_ChIP-Seq_XEN_Mouse0.76063877
63ESRRB_18555785_Chip-Seq_ESCs_Mouse0.75704087
64FOXA1_25552417_ChIP-Seq_VCAP_Human0.74970622
65FOXH1_21741376_ChIP-Seq_EPCs_Human0.73730282
66SUZ12_27294783_Chip-Seq_NPCs_Mouse0.73414276
67ZFX_18555785_Chip-Seq_ESCs_Mouse0.72807600
68RUNX1_27457419_Chip-Seq_LIVER_Mouse0.72403416
69POU5F1_16518401_ChIP-PET_MESCs_Mouse0.72177612
70CDX2_22108803_ChIP-Seq_LS180_Human0.71648135
71ZFP322A_24550733_ChIP-Seq_MESCs_Mouse0.70899960
72ERA_21632823_ChIP-Seq_H3396_Human0.69411962
73CRX_20693478_ChIP-Seq_RETINA_Mouse0.68788231
74SOX2_21211035_ChIP-Seq_LN229_Human0.68670621
75AR_21909140_ChIP-Seq_LNCAP_Human0.67645519
76NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.67618584
77ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.67306897
78MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.66786006
79GATA3_24758297_ChIP-Seq_MCF-7_Human0.64044127
80HTT_18923047_ChIP-ChIP_STHdh_Human0.63995537
81RAC3_21632823_ChIP-Seq_H3396_Human0.63988016
82OCT4_18555785_Chip-Seq_ESCs_Mouse0.63059181
83BCAT_22108803_ChIP-Seq_LS180_Human0.62841773
84SOX11_22085726_ChIP-Seq_ESNs_Mouse0.62300105
85AR_20517297_ChIP-Seq_VCAP_Human0.62057142
86IRF1_19129219_ChIP-ChIP_H3396_Human0.60948881
87STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.60812539
88RAD21_21589869_ChIP-Seq_MESCs_Mouse0.60780734
89SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.60634760
90TP53_16413492_ChIP-PET_HCT116_Human0.60082545
91ER_23166858_ChIP-Seq_MCF-7_Human0.59346182
92OCT4_20526341_ChIP-Seq_ESCs_Human0.58843785
93PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.58272958
94JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.57456163
95TAF15_26573619_Chip-Seq_HEK293_Human0.57443502
96CSB_26484114_Chip-Seq_FIBROBLAST_Human0.57399128
97ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.56712442
98AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.56168083
99RARA_24833708_ChIP-Seq_LIVER_Mouse0.56155794
100RARB_24833708_ChIP-Seq_LIVER_Mouse0.56044777

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system6.66805734
2MP0005360_urolithiasis5.89561903
3MP0005365_abnormal_bile_salt5.24424198
4MP0005085_abnormal_gallbladder_physiolo4.89305034
5MP0001666_abnormal_nutrient_absorption4.44545725
6MP0003195_calcinosis4.31686184
7MP0009840_abnormal_foam_cell4.07837840
8MP0005451_abnormal_body_composition4.07694117
9MP0010329_abnormal_lipoprotein_level3.58633780
10MP0003122_maternal_imprinting3.45743450
11MP0003868_abnormal_feces_composition3.33278013
12MP0008875_abnormal_xenobiotic_pharmacok3.28033117
13MP0003191_abnormal_cellular_cholesterol3.25082534
14MP0003252_abnormal_bile_duct2.56826804
15MP0002138_abnormal_hepatobiliary_system2.39786673
16MP0009697_abnormal_copulation1.95238709
17MP0003315_abnormal_perineum_morphology1.87717632
18MP0002118_abnormal_lipid_homeostasis1.76250320
19MP0005332_abnormal_amino_acid1.74029366
20MP0000609_abnormal_liver_physiology1.62632232
21MP0005410_abnormal_fertilization1.60696264
22MP0003123_paternal_imprinting1.59909505
23MP0005408_hypopigmentation1.55433091
24MP0004019_abnormal_vitamin_homeostasis1.53648668
25MP0005058_abnormal_lysosome_morphology1.49131218
26MP0006054_spinal_hemorrhage1.48041300
27MP0001915_intracranial_hemorrhage1.44558095
28MP0002876_abnormal_thyroid_physiology1.40497027
29MP0001764_abnormal_homeostasis1.39636142
30MP0003950_abnormal_plasma_membrane1.37492071
31MP0003567_abnormal_fetal_cardiomyocyte1.35858345
32MP0002089_abnormal_postnatal_growth/wei1.26354230
33MP0000604_amyloidosis1.20214987
34MP0000516_abnormal_urinary_system1.18929365
35MP0005367_renal/urinary_system_phenotyp1.18929365
36MP0000639_abnormal_adrenal_gland1.18045911
37MP0000566_synostosis1.15499643
38MP0004272_abnormal_basement_membrane1.13186445
39MP0000598_abnormal_liver_morphology1.11077118
40MP0003806_abnormal_nucleotide_metabolis1.06105862
41MP0002132_abnormal_respiratory_system1.05655484
42MP0009384_cardiac_valve_regurgitation1.05175797
43MP0003011_delayed_dark_adaptation0.99277597
44MP0004264_abnormal_extraembryonic_tissu0.97421575
45MP0005464_abnormal_platelet_physiology0.97364290
46MP0003941_abnormal_skin_development0.95978946
47MP0005084_abnormal_gallbladder_morpholo0.95299455
48MP0008004_abnormal_stomach_pH0.93337837
49MP0003121_genomic_imprinting0.91002819
50MP0003890_abnormal_embryonic-extraembry0.88324676
51MP0001661_extended_life_span0.85752316
52MP0010368_abnormal_lymphatic_system0.85093693
53MP0005636_abnormal_mineral_homeostasis0.83448579
54MP0003172_abnormal_lysosome_physiology0.82188602
55MP0009642_abnormal_blood_homeostasis0.80368442
56MP0003385_abnormal_body_wall0.80049710
57MP0009780_abnormal_chondrocyte_physiolo0.76513526
58MP0005551_abnormal_eye_electrophysiolog0.72248031
59MP0005319_abnormal_enzyme/_coenzyme0.70674688
60MP0002160_abnormal_reproductive_system0.69416073
61MP0003718_maternal_effect0.68193137
62MP0005395_other_phenotype0.68085646
63MP0004883_abnormal_blood_vessel0.67726016
64MP0002938_white_spotting0.67216963
65MP0005670_abnormal_white_adipose0.66909477
66MP0000537_abnormal_urethra_morphology0.65806561
67MP0001929_abnormal_gametogenesis0.63410308
68MP0002090_abnormal_vision0.62960337
69MP0002254_reproductive_system_inflammat0.62480182
70MP0009643_abnormal_urine_homeostasis0.62044113
71MP0005376_homeostasis/metabolism_phenot0.60505335
72MP0005167_abnormal_blood-brain_barrier0.60474557
73MP0005257_abnormal_intraocular_pressure0.57959081
74MP0003698_abnormal_male_reproductive0.57873576
75MP0005164_abnormal_response_to0.57358055
76MP0003879_abnormal_hair_cell0.56813818
77MP0005187_abnormal_penis_morphology0.55891483
78MP0002233_abnormal_nose_morphology0.54993745
79MP0001324_abnormal_eye_pigmentation0.54971152
80MP0001270_distended_abdomen0.52793214
81MP0009115_abnormal_fat_cell0.51448428
82MP0002161_abnormal_fertility/fecundity0.50484496
83MP0008260_abnormal_autophagy0.49700196
84MP0003943_abnormal_hepatobiliary_system0.49549605
85MP0005220_abnormal_exocrine_pancreas0.49242073
86MP0003699_abnormal_female_reproductive0.49173695
87MP0005647_abnormal_sex_gland0.47270913
88MP0003953_abnormal_hormone_level0.47141568
89MP0006292_abnormal_olfactory_placode0.46429668
90MP0003942_abnormal_urinary_system0.44100289
91MP0003183_abnormal_peptide_metabolism0.43563010
92MP0000653_abnormal_sex_gland0.42712639
93MP0002078_abnormal_glucose_homeostasis0.42007475
94MP0002168_other_aberrant_phenotype0.41184521
95MP0005409_darkened_coat_color0.40943731
96MP0002282_abnormal_trachea_morphology0.39569360
97MP0002128_abnormal_blood_circulation0.39390808
98MP0005379_endocrine/exocrine_gland_phen0.38789410
99MP0009672_abnormal_birth_weight0.37881339
100MP0002697_abnormal_eye_size0.37770907

Predicted human phenotypes

RankGene SetZ-score
1Prolonged partial thromboplastin time (HP:0003645)8.18975116
2Hypobetalipoproteinemia (HP:0003563)6.90072838
3Joint hemorrhage (HP:0005261)6.13750023
4Hypolipoproteinemia (HP:0010981)5.82310412
5Abnormality of the common coagulation pathway (HP:0010990)5.59430478
6Abnormality of monocarboxylic acid metabolism (HP:0010996)5.52823554
7Complement deficiency (HP:0004431)5.39529082
8Hypoalphalipoproteinemia (HP:0003233)5.37983046
9Spontaneous abortion (HP:0005268)5.11185735
10Abnormality of aromatic amino acid family metabolism (HP:0004338)4.49837840
11Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.45879563
12Xanthomatosis (HP:0000991)4.33413893
13Systemic lupus erythematosus (HP:0002725)4.19188431
14Intrahepatic cholestasis (HP:0001406)4.13275814
15Glomerulonephritis (HP:0000099)4.06081524
16Abnormality of complement system (HP:0005339)3.86817385
17Hypercholesterolemia (HP:0003124)3.75256839
18Menorrhagia (HP:0000132)3.74437038
19Epidermoid cyst (HP:0200040)3.33719244
20Acanthocytosis (HP:0001927)3.23862843
21Hemorrhage of the eye (HP:0011885)3.18647724
22Gingival bleeding (HP:0000225)3.13159806
23Fat malabsorption (HP:0002630)2.95402001
24Small epiphyses (HP:0010585)2.94240060
25Osteomalacia (HP:0002749)2.93589616
26Pancreatic islet-cell hyperplasia (HP:0004510)2.91783856
27Hyperglycinemia (HP:0002154)2.85664500
28Abnormality of carpal bone ossification (HP:0006257)2.82769552
29Vaginal fistula (HP:0004320)2.82488374
30Hypoglycemic coma (HP:0001325)2.80211239
31Broad alveolar ridges (HP:0000187)2.77590743
32Hyperlipoproteinemia (HP:0010980)2.75741887
33Retinal atrophy (HP:0001105)2.70275945
34Hypophosphatemic rickets (HP:0004912)2.68846963
35Amyloidosis (HP:0011034)2.68399305
36Abnormality of pyrimidine metabolism (HP:0004353)2.65060650
37Conjugated hyperbilirubinemia (HP:0002908)2.64139776
38Vascular calcification (HP:0004934)2.55987442
39Enlarged kidneys (HP:0000105)2.50476146
40Renal cortical cysts (HP:0000803)2.44398234
41Purpura (HP:0000979)2.42640647
42Abnormality of the intrinsic pathway (HP:0010989)2.39072801
43Abnormal tarsal ossification (HP:0008369)2.37074563
44Broad palm (HP:0001169)2.35167065
45Hepatoblastoma (HP:0002884)2.33975317
46Thrombophlebitis (HP:0004418)2.33904088
47Generalized aminoaciduria (HP:0002909)2.33568689
48Delayed CNS myelination (HP:0002188)2.30235587
49Hyperammonemia (HP:0001987)2.29500833
50Myocardial infarction (HP:0001658)2.27032060
51Cardiovascular calcification (HP:0011915)2.21164799
52Abnormality of the nasal septum (HP:0000419)2.19756765
53Nephritis (HP:0000123)2.16936117
54Rickets (HP:0002748)2.16228539
55Abnormality of glutamine family amino acid metabolism (HP:0010902)2.14898483
56Hypoplasia of the capital femoral epiphysis (HP:0003090)2.14898257
57Abnormal hand bone ossification (HP:0010660)2.12442767
58Abnormality of the lumbar spine (HP:0100712)2.09104895
59Abnormality of the pancreatic islet cells (HP:0006476)2.08130320
60Abnormality of endocrine pancreas physiology (HP:0012093)2.08130320
61Proximal tubulopathy (HP:0000114)2.06809527
62Gonadal dysgenesis (HP:0000133)2.06653571
63Hypoglycemic seizures (HP:0002173)2.06019455
64Abnormal delivery (HP:0001787)2.03198655
65Reduced antithrombin III activity (HP:0001976)2.02058190
66Abnormality of the wing of the ilium (HP:0011867)2.01215953
67Arthropathy (HP:0003040)2.00715779
68Deep venous thrombosis (HP:0002625)10.9015290
69Hepatocellular carcinoma (HP:0001402)1.99572454
70Mitral stenosis (HP:0001718)1.99004138
71Abnormal ossification of hand bones (HP:0005921)1.98071084
72Rectal fistula (HP:0100590)1.94289853
73Rectovaginal fistula (HP:0000143)1.94289853
74Glycosuria (HP:0003076)1.93979280
75Abnormality of urine glucose concentration (HP:0011016)1.93979280
76Abnormality of glycine metabolism (HP:0010895)1.93846836
77Abnormality of serine family amino acid metabolism (HP:0010894)1.93846836
78Increased serum ferritin (HP:0003281)1.92509298
79Abnormality of transition element cation homeostasis (HP:0011030)1.91650039
80Poikilocytosis (HP:0004447)1.88526693
81Anal stenosis (HP:0002025)1.87279058
82Irregular epiphyses (HP:0010582)1.85445090
83Skin nodule (HP:0200036)1.84897686
84Widely patent fontanelles and sutures (HP:0004492)1.84597558
85Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.83127789
86Facial shape deformation (HP:0011334)1.81758116
87Potter facies (HP:0002009)1.81758116
88Epiphyseal dysplasia (HP:0002656)1.81604517
89Pulmonary embolism (HP:0002204)1.80797209
90Abnormality of nucleobase metabolism (HP:0010932)1.79872732
91Flared iliac wings (HP:0002869)1.79771367
92Abnormality of methionine metabolism (HP:0010901)1.77987685
93Abnormality of iron homeostasis (HP:0011031)1.77307550
94Abnormality of serum amino acid levels (HP:0003112)1.76424785
95Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.75155925
96Absent epiphyses (HP:0010577)1.75155925
97Asymmetry of the thorax (HP:0001555)1.74404768
98Preauricular pit (HP:0004467)1.74391102
99Periauricular skin pits (HP:0100277)1.74391102
100Flat acetabular roof (HP:0003180)1.72984856

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FGFR45.37478101
2PRKD34.39111984
3TRIM284.33443771
4FGFR34.10529406
5WNK43.71948519
6NEK93.47186204
7AKT32.79087005
8PDK22.70667938
9TYRO32.65329605
10PNCK2.54332243
11MET2.42814194
12FGFR22.10181517
13FGFR11.99753594
14MAPK131.95441153
15ERN11.84685914
16PIK3CA1.82005178
17ICK1.77660709
18PDGFRA1.59549653
19STK161.48566028
20LATS11.47812722
21GRK11.42266878
22CDK121.33329914
23WNK11.26166614
24MAPKAPK31.23486029
25BMPR1B1.20873336
26DDR21.13523386
27PKN21.12520912
28STK381.04635692
29RET1.03444378
30PDPK11.03001749
31RIPK10.97208009
32WEE10.96393710
33CDK40.94062994
34MAP3K20.92452976
35EPHA40.91943268
36SCYL20.91774386
37PKN10.91645242
38NLK0.87277531
39NTRK30.86551880
40BCR0.86274505
41PRKCG0.85353674
42TYK20.84222943
43FRK0.83997552
44CSNK1E0.83762154
45DYRK1B0.79382926
46BRD40.78554752
47RPS6KB10.77646164
48PDK10.77162756
49MAPK110.76246262
50PRKAA20.74967337
51ERBB20.74452983
52PBK0.73225055
53CDK70.72340885
54STK38L0.71768284
55FGR0.70843107
56MAP3K10.69844117
57MELK0.67395227
58STK390.62854031
59NEK20.60887977
60CHUK0.60745385
61SGK10.58607047
62PINK10.57534298
63PRKACG0.55606141
64CSNK1D0.55503740
65MINK10.55209458
66TGFBR20.54839560
67SIK20.54193948
68CSF1R0.52417142
69PRKG10.50762915
70IGF1R0.49498053
71NEK10.49006799
72WNK30.47133064
73PRKCZ0.46578500
74MAP2K20.44625821
75CSNK2A20.43038150
76FLT30.40908955
77SGK4940.40234235
78SGK2230.40234235
79LMTK20.38523125
80EPHA20.37065799
81PRKACB0.36690522
82PTK60.36011838
83ATM0.35964567
84PTK20.35645664
85CSNK2A10.35505197
86MAP3K50.33836529
87PRKD20.33446037
88PRKCB0.33264715
89PDGFRB0.33107504
90MAPKAPK20.32679546
91SRC0.29204982
92STK40.27502123
93INSRR0.26581521
94RPS6KA30.25943682
95PLK40.25421701
96MAPK10.25324991
97PRKACA0.25020530
98PLK10.24769533
99EIF2AK10.22912182
100PRKAA10.22746791

Predicted pathways (KEGG)

RankGene SetZ-score
1Complement and coagulation cascades_Homo sapiens_hsa046104.76465848
2Primary bile acid biosynthesis_Homo sapiens_hsa001203.77122210
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.17175331
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.06694114
5Fat digestion and absorption_Homo sapiens_hsa049752.85324970
6Arginine biosynthesis_Homo sapiens_hsa002202.79771341
7Pentose and glucuronate interconversions_Homo sapiens_hsa000402.40477896
8Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.39266915
9Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.29590829
10Retinol metabolism_Homo sapiens_hsa008302.22388488
11Steroid hormone biosynthesis_Homo sapiens_hsa001402.22034637
12Fatty acid degradation_Homo sapiens_hsa000712.21095697
13PPAR signaling pathway_Homo sapiens_hsa033202.20227557
14Vitamin digestion and absorption_Homo sapiens_hsa049772.18686721
15Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.04712469
16Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.00713192
17Chemical carcinogenesis_Homo sapiens_hsa052041.98564451
18Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.96055379
19Phenylalanine metabolism_Homo sapiens_hsa003601.92877854
20Cyanoamino acid metabolism_Homo sapiens_hsa004601.76829958
21Maturity onset diabetes of the young_Homo sapiens_hsa049501.71986549
22Histidine metabolism_Homo sapiens_hsa003401.71593271
23Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.71265374
24Peroxisome_Homo sapiens_hsa041461.69505738
252-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.67335972
26Starch and sucrose metabolism_Homo sapiens_hsa005001.64707127
27Drug metabolism - other enzymes_Homo sapiens_hsa009831.64145844
28Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.62717400
29Bile secretion_Homo sapiens_hsa049761.61268061
30Propanoate metabolism_Homo sapiens_hsa006401.60046364
31Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.59400958
32Steroid biosynthesis_Homo sapiens_hsa001001.47110145
33Tyrosine metabolism_Homo sapiens_hsa003501.46530740
34Fatty acid metabolism_Homo sapiens_hsa012121.42579037
35Butanoate metabolism_Homo sapiens_hsa006501.37858582
36Sulfur metabolism_Homo sapiens_hsa009201.29116183
37Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.27536462
38Fatty acid biosynthesis_Homo sapiens_hsa000611.23490867
39Sulfur relay system_Homo sapiens_hsa041221.23094375
40Arginine and proline metabolism_Homo sapiens_hsa003301.22973186
41Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.19169296
42Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.17984056
43Pyruvate metabolism_Homo sapiens_hsa006201.13884475
44Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.13582967
45Caffeine metabolism_Homo sapiens_hsa002321.12709627
46Other glycan degradation_Homo sapiens_hsa005111.08972086
47Tryptophan metabolism_Homo sapiens_hsa003801.08508928
48Staphylococcus aureus infection_Homo sapiens_hsa051501.07450535
49ABC transporters_Homo sapiens_hsa020101.07000720
50Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.06025648
51Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.04913380
52Glycosaminoglycan degradation_Homo sapiens_hsa005311.03702649
53Biosynthesis of amino acids_Homo sapiens_hsa012301.02341196
54beta-Alanine metabolism_Homo sapiens_hsa004101.01555701
55Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.01506752
56Fatty acid elongation_Homo sapiens_hsa000620.97957216
57Cysteine and methionine metabolism_Homo sapiens_hsa002700.89447240
58Linoleic acid metabolism_Homo sapiens_hsa005910.86322436
59Carbon metabolism_Homo sapiens_hsa012000.85963725
60Renin-angiotensin system_Homo sapiens_hsa046140.82072270
61Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.79636254
62N-Glycan biosynthesis_Homo sapiens_hsa005100.74440042
63Vitamin B6 metabolism_Homo sapiens_hsa007500.73939481
64Lysine degradation_Homo sapiens_hsa003100.67253042
65Fructose and mannose metabolism_Homo sapiens_hsa000510.66095540
66Galactose metabolism_Homo sapiens_hsa000520.64515231
67Arachidonic acid metabolism_Homo sapiens_hsa005900.63913656
68One carbon pool by folate_Homo sapiens_hsa006700.61238703
69Glycerolipid metabolism_Homo sapiens_hsa005610.55120257
70Metabolic pathways_Homo sapiens_hsa011000.51384050
71Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.50367952
72Nitrogen metabolism_Homo sapiens_hsa009100.49946977
73Prion diseases_Homo sapiens_hsa050200.49380220
74Glucagon signaling pathway_Homo sapiens_hsa049220.45684619
75Glycerophospholipid metabolism_Homo sapiens_hsa005640.43908669
76Sphingolipid metabolism_Homo sapiens_hsa006000.43243472
77Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.41974501
78Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.39655376
79Glutathione metabolism_Homo sapiens_hsa004800.37030840
80Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.33857600
81African trypanosomiasis_Homo sapiens_hsa051430.33251438
82alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.31873155
83Insulin resistance_Homo sapiens_hsa049310.23844907
84Thyroid hormone synthesis_Homo sapiens_hsa049180.22066510
85TGF-beta signaling pathway_Homo sapiens_hsa043500.18453432
86Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.18121930
87ECM-receptor interaction_Homo sapiens_hsa045120.18066201
88Pertussis_Homo sapiens_hsa051330.18021519
89Mineral absorption_Homo sapiens_hsa049780.15450598
90Adipocytokine signaling pathway_Homo sapiens_hsa049200.14364933
91Protein export_Homo sapiens_hsa030600.11815467
92Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.10348797
93Ether lipid metabolism_Homo sapiens_hsa005650.09976208
94Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.06902155
95Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.06329414
96Selenocompound metabolism_Homo sapiens_hsa004500.05092281
97Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.04961562
98Pentose phosphate pathway_Homo sapiens_hsa00030-0.0369243
99Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.0281646
100Lysosome_Homo sapiens_hsa04142-0.0136117

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