MAFIP

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
1autophagic vacuole fusion (GO:0000046)5.37599199
2metallo-sulfur cluster assembly (GO:0031163)5.36503731
3iron-sulfur cluster assembly (GO:0016226)5.36503731
4sphingomyelin metabolic process (GO:0006684)5.22144151
5organelle membrane fusion (GO:0090174)4.95456413
6negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)4.80792368
7auditory receptor cell differentiation (GO:0042491)4.75840435
8energy homeostasis (GO:0097009)4.25778686
92-deoxyribonucleotide biosynthetic process (GO:0009265)3.80537916
10deoxyribose phosphate biosynthetic process (GO:0046385)3.80537916
11S-adenosylmethionine metabolic process (GO:0046500)3.76798136
12regulation of vitamin D biosynthetic process (GO:0060556)3.68288460
13regulation of cellular amino acid metabolic process (GO:0006521)3.56021398
14negative regulation of monooxygenase activity (GO:0032769)3.54778289
15deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.50151376
16mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.46787632
17regulation of vitamin metabolic process (GO:0030656)3.43750692
18regulation of T-helper 1 cell differentiation (GO:0045625)3.32579524
19regulation of B cell apoptotic process (GO:0002902)3.26634827
20GMP metabolic process (GO:0046037)3.25601660
21positive regulation of prostaglandin secretion (GO:0032308)3.21389424
22L-phenylalanine metabolic process (GO:0006558)3.20295652
23erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.20295652
24GDP-mannose metabolic process (GO:0019673)3.19931434
25mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.19095162
26protein prenylation (GO:0018342)3.17743343
27prenylation (GO:0097354)3.17743343
28respiratory electron transport chain (GO:0022904)3.16596243
29electron transport chain (GO:0022900)3.15539006
30negative regulation of B cell apoptotic process (GO:0002903)3.14922883
31erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.13734902
32L-phenylalanine catabolic process (GO:0006559)3.13734902
33DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.12202064
34rRNA modification (GO:0000154)3.06610636
35energy coupled proton transport, down electrochemical gradient (GO:0015985)3.05482797
36ATP synthesis coupled proton transport (GO:0015986)3.05482797
37cellular response to vitamin D (GO:0071305)3.03028606
38intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.00372540
39signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.00372540
40positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.00349879
41positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.98904404
42negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.98852027
43signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.97577498
44signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.97577498
45signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.97577498
46ATP hydrolysis coupled proton transport (GO:0015991)2.97146314
47energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)2.97146314
48RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.96278665
49positive regulation of ligase activity (GO:0051351)2.95890860
50positive regulation of lamellipodium assembly (GO:0010592)2.95576584
51regulation of B cell receptor signaling pathway (GO:0050855)2.95495989
52signal peptide processing (GO:0006465)2.90978698
53negative regulation of oxidoreductase activity (GO:0051354)2.90423218
54regulation of mitochondrial translation (GO:0070129)2.86549893
55signal transduction involved in DNA integrity checkpoint (GO:0072401)2.86192256
56signal transduction involved in DNA damage checkpoint (GO:0072422)2.86192256
57pyrimidine deoxyribonucleotide metabolic process (GO:0009219)2.84720517
58negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)2.83156671
59nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.82939151
60pteridine-containing compound biosynthetic process (GO:0042559)2.82377475
61glycerol ether metabolic process (GO:0006662)2.81481611
62positive regulation of lamellipodium organization (GO:1902745)2.79923070
63deoxyribonucleoside triphosphate metabolic process (GO:0009200)2.78298493
64NAD biosynthetic process (GO:0009435)2.77639672
65signal transduction involved in cell cycle checkpoint (GO:0072395)2.76289902
66antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.75903559
67positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)2.74613134
68protein complex biogenesis (GO:0070271)2.74514084
69negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.73455015
70negative regulation of ligase activity (GO:0051352)2.73455015
71mitochondrial respiratory chain complex assembly (GO:0033108)2.67148099
72detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)2.66042885
73regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.65087686
74regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)2.64882431
75negative regulation of stress fiber assembly (GO:0051497)2.64859453
76ether metabolic process (GO:0018904)2.63427925
77antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)2.60665725
78hydrogen ion transmembrane transport (GO:1902600)2.58302733
79cellular response to zinc ion (GO:0071294)2.58020647
80regulation of cellular amine metabolic process (GO:0033238)2.57651785
81regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022352.57277956
82regulation of prostaglandin secretion (GO:0032306)2.55807517
83deoxyribonucleotide biosynthetic process (GO:0009263)2.55696894
84nucleoside transport (GO:0015858)2.53930003
85GPI anchor biosynthetic process (GO:0006506)2.53075722
86exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.50751342
87positive regulation of fatty acid transport (GO:2000193)2.50643627
88proteasome assembly (GO:0043248)2.48492805
89aromatic amino acid family catabolic process (GO:0009074)2.47613520
90positive regulation of mRNA catabolic process (GO:0061014)2.46972676
91omega-hydroxylase P450 pathway (GO:0097267)2.46969759
92negative regulation of cell size (GO:0045792)2.45564081
93ether lipid metabolic process (GO:0046485)2.44876888
94negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)2.44840985
95negative regulation of T-helper cell differentiation (GO:0045623)2.44840985
96regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)2.43435842
97tetrahydrofolate metabolic process (GO:0046653)2.41493774
98cytochrome complex assembly (GO:0017004)2.40166336
99positive regulation of cell cycle arrest (GO:0071158)2.40059077
100detection of chemical stimulus involved in sensory perception of taste (GO:0050912)2.39441715

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1NOTCH1_17114293_ChIP-ChIP_T-ALL_Human4.41510425
2JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.48811623
3IRF8_22096565_ChIP-ChIP_GC-B_Human3.47203932
4SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.86528923
5CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.75106237
6SRF_21415370_ChIP-Seq_HL-1_Mouse2.71941685
7KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.65005851
8GABP_17652178_ChIP-ChIP_JURKAT_Human2.64259953
9EST1_17652178_ChIP-ChIP_JURKAT_Human2.58234367
10ETS1_20019798_ChIP-Seq_JURKAT_Human2.58113053
11CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.46711054
12ZNF263_19887448_ChIP-Seq_K562_Human2.14156042
13RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.09749705
14EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.06616212
15PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.05962596
16EGR1_23403033_ChIP-Seq_LIVER_Mouse2.00807493
17LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.97564070
18MYC_18358816_ChIP-ChIP_MESCs_Mouse1.94170456
19IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.93095329
20VDR_23849224_ChIP-Seq_CD4+_Human1.91983622
21FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.89675970
22ELF1_17652178_ChIP-ChIP_JURKAT_Human1.89091334
23PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.84217898
24FOXP3_21729870_ChIP-Seq_TREG_Human1.72825944
25CIITA_25753668_ChIP-Seq_RAJI_Human1.72180836
26ELF1_20517297_ChIP-Seq_JURKAT_Human1.67689287
27SRY_22984422_ChIP-ChIP_TESTIS_Rat1.63226860
28HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.61583520
29MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.55654399
30SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.53917228
31HOXB4_20404135_ChIP-ChIP_EML_Mouse1.51222035
32SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.49513090
33E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.48912102
34VDR_22108803_ChIP-Seq_LS180_Human1.48852570
35STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.48710945
36LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.47846823
37BCL6_27268052_Chip-Seq_Bcells_Human1.45471223
38GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.41377861
39HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.40686728
40HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.39909023
41RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.36682396
42HTT_18923047_ChIP-ChIP_STHdh_Human1.34178308
43E2F1_18555785_ChIP-Seq_MESCs_Mouse1.33565421
44XRN2_22483619_ChIP-Seq_HELA_Human1.33157946
45NOTCH1_21737748_ChIP-Seq_TLL_Human1.33105451
46EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.32431195
47E2F1_20622854_ChIP-Seq_HELA_Human1.30493813
48PPARA_22158963_ChIP-Seq_LIVER_Mouse1.29588644
49P300_27268052_Chip-Seq_Bcells_Human1.28951579
50CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.28754206
51DCP1A_22483619_ChIP-Seq_HELA_Human1.28096792
52ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.26645530
53TET1_21451524_ChIP-Seq_MESCs_Mouse1.25940439
54GABP_19822575_ChIP-Seq_HepG2_Human1.25835695
55ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.25650759
56CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.24212421
57CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.22931543
58TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.22041734
59ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.21104727
60BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.21087629
61CTCF_18555785_ChIP-Seq_MESCs_Mouse1.19423091
62SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.16384116
63ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.16334875
64CREB1_15753290_ChIP-ChIP_HEK293T_Human1.15670379
65PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.14912804
66FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.14688244
67NCOR1_26117541_ChIP-Seq_K562_Human1.14339350
68SPI1_20517297_ChIP-Seq_HL60_Human1.14291049
69P68_20966046_ChIP-Seq_HELA_Human1.13489494
70MYC_19030024_ChIP-ChIP_MESCs_Mouse1.12091846
71RAC3_21632823_ChIP-Seq_H3396_Human1.10912575
72RXR_22158963_ChIP-Seq_LIVER_Mouse1.10387434
73P53_21459846_ChIP-Seq_SAOS-2_Human1.08124090
74SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.07449885
75TFEB_21752829_ChIP-Seq_HELA_Human1.05413429
76PHF8_20622854_ChIP-Seq_HELA_Human1.04550671
77LXR_22292898_ChIP-Seq_THP-1_Human1.03649150
78TDRD3_21172665_ChIP-Seq_MCF-7_Human1.03153511
79SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.02733508
80SPI1_23547873_ChIP-Seq_NB4_Human1.02250351
81ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.00735387
82FOXP1_21924763_ChIP-Seq_HESCs_Human1.00590844
83CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.00078784
84RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.99150969
85FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.98790758
86MECOM_23826213_ChIP-Seq_KASUMI_Mouse0.98346557
87STAT1_20625510_ChIP-Seq_HELA_Human0.98316330
88THAP11_20581084_ChIP-Seq_MESCs_Mouse0.97967092
89BCOR_27268052_Chip-Seq_Bcells_Human0.97533800
90ERG_20517297_ChIP-Seq_VCAP_Human0.97097814
91RARB_24833708_ChIP-Seq_LIVER_Mouse0.96913584
92STAT6_21828071_ChIP-Seq_BEAS2B_Human0.96893519
93PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.96200590
94STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.95320010
95TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.94770623
96ERG_20887958_ChIP-Seq_HPC-7_Mouse0.93343369
97PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.92705155
98AR_20517297_ChIP-Seq_VCAP_Human0.91722858
99TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.91042002
100PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.90383858

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005451_abnormal_body_composition4.68850698
2MP0003195_calcinosis4.25990329
3MP0002138_abnormal_hepatobiliary_system3.90335709
4MP0002139_abnormal_hepatobiliary_system3.49181163
5MP0010386_abnormal_urinary_bladder3.13339698
6MP0009780_abnormal_chondrocyte_physiolo2.69085515
7MP0008875_abnormal_xenobiotic_pharmacok2.62248450
8MP0005084_abnormal_gallbladder_morpholo2.54417928
9MP0005058_abnormal_lysosome_morphology2.45826497
10MP0003806_abnormal_nucleotide_metabolis2.40816966
11MP0006072_abnormal_retinal_apoptosis2.35395284
12MP0005083_abnormal_biliary_tract2.33008765
13MP0003283_abnormal_digestive_organ2.12108838
14MP0003300_gastrointestinal_ulcer2.04829480
15MP0005220_abnormal_exocrine_pancreas2.03535735
16MP0005365_abnormal_bile_salt1.90899842
17MP0002837_dystrophic_cardiac_calcinosis1.89368889
18MP0006035_abnormal_mitochondrial_morpho1.89135381
19MP0004147_increased_porphyrin_level1.86494396
20MP0006036_abnormal_mitochondrial_physio1.86334021
21MP0003724_increased_susceptibility_to1.79773817
22MP0003436_decreased_susceptibility_to1.65872756
23MP0005670_abnormal_white_adipose1.61783045
24MP0001533_abnormal_skeleton_physiology1.59358550
25MP0002148_abnormal_hypersensitivity_rea1.52179401
26MP0003075_altered_response_to1.47006775
27MP0009840_abnormal_foam_cell1.44886219
28MP0005000_abnormal_immune_tolerance1.39301079
29MP0001873_stomach_inflammation1.38469838
30MP0009785_altered_susceptibility_to1.35497509
31MP0002132_abnormal_respiratory_system1.34798922
32MP0009046_muscle_twitch1.33833839
33MP0006054_spinal_hemorrhage1.30247227
34MP0005389_reproductive_system_phenotype1.30065168
35MP0005410_abnormal_fertilization1.29781425
36MP0003186_abnormal_redox_activity1.27404968
37MP0005360_urolithiasis1.26863473
38MP0001661_extended_life_span1.24814747
39MP0002168_other_aberrant_phenotype1.23608894
40MP0001790_abnormal_immune_system1.22538091
41MP0005387_immune_system_phenotype1.22538091
42MP0008260_abnormal_autophagy1.20604788
43MP0001845_abnormal_inflammatory_respons1.19168083
44MP0001666_abnormal_nutrient_absorption1.18129402
45MP0003045_fibrosis1.17020717
46MP0000685_abnormal_immune_system1.16856222
47MP0008872_abnormal_physiological_respon1.16028560
48MP0005395_other_phenotype1.15319244
49MP0005023_abnormal_wound_healing1.15122961
50MP0002160_abnormal_reproductive_system1.10803930
51MP0003763_abnormal_thymus_physiology1.09798040
52MP0005332_abnormal_amino_acid1.09645228
53MP0006082_CNS_inflammation1.07341184
54MP0009764_decreased_sensitivity_to1.06691863
55MP0009643_abnormal_urine_homeostasis1.06377671
56MP0002405_respiratory_system_inflammati1.05374305
57MP0000358_abnormal_cell_content/1.04963241
58MP0002163_abnormal_gland_morphology1.04852588
59MP0003718_maternal_effect1.02705786
60MP0005636_abnormal_mineral_homeostasis1.02629014
61MP0005319_abnormal_enzyme/_coenzyme0.99433629
62MP0001545_abnormal_hematopoietic_system0.98139307
63MP0005397_hematopoietic_system_phenotyp0.98139307
64MP0008004_abnormal_stomach_pH0.97406479
65MP0001919_abnormal_reproductive_system0.96882576
66MP0002876_abnormal_thyroid_physiology0.95750981
67MP0010155_abnormal_intestine_physiology0.95440700
68MP0009333_abnormal_splenocyte_physiolog0.95264647
69MP0000013_abnormal_adipose_tissue0.95170668
70MP0004742_abnormal_vestibular_system0.95003500
71MP0004808_abnormal_hematopoietic_stem0.93639120
72MP0003183_abnormal_peptide_metabolism0.92365184
73MP0002693_abnormal_pancreas_physiology0.92342721
74MP0008469_abnormal_protein_level0.91922643
75MP0000538_abnormal_urinary_bladder0.91868773
76MP0002452_abnormal_antigen_presenting0.91036137
77MP0001664_abnormal_digestion0.91021242
78MP0005551_abnormal_eye_electrophysiolog0.88172132
79MP0005025_abnormal_response_to0.88034320
80MP0001800_abnormal_humoral_immune0.86666119
81MP0002723_abnormal_immune_serum0.85608143
82MP0003786_premature_aging0.84579416
83MP0004782_abnormal_surfactant_physiolog0.83615766
84MP0001944_abnormal_pancreas_morphology0.82695613
85MP0005464_abnormal_platelet_physiology0.82585145
86MP0005671_abnormal_response_to0.79983119
87MP0005165_increased_susceptibility_to0.78833728
88MP0010329_abnormal_lipoprotein_level0.78474531
89MP0005166_decreased_susceptibility_to0.77268579
90MP0001542_abnormal_bone_strength0.76198008
91MP0002419_abnormal_innate_immunity0.75926920
92MP0002118_abnormal_lipid_homeostasis0.75449287
93MP0000689_abnormal_spleen_morphology0.75367013
94MP0005584_abnormal_enzyme/coenzyme_acti0.74673777
95MP0001765_abnormal_ion_homeostasis0.73867132
96MP0004019_abnormal_vitamin_homeostasis0.73335313
97MP0001835_abnormal_antigen_presentation0.72866819
98MP0002420_abnormal_adaptive_immunity0.72696591
99MP0008874_decreased_physiological_sensi0.71685760
100MP0001819_abnormal_immune_cell0.71426494

Predicted human phenotypes

RankGene SetZ-score
1Pigmentary retinal degeneration (HP:0001146)5.00620984
2Abnormality of aromatic amino acid family metabolism (HP:0004338)4.18075673
3Aplasia/hypoplasia of the uterus (HP:0008684)4.07466067
4Hypoplasia of the uterus (HP:0000013)3.93144463
5Abnormality of glycolipid metabolism (HP:0010969)3.82153438
6Abnormality of liposaccharide metabolism (HP:0010968)3.82153438
7Abnormality of glycosphingolipid metabolism (HP:0004343)3.82153438
8Abnormal rod and cone electroretinograms (HP:0008323)3.73857911
9Abnormal mitochondria in muscle tissue (HP:0008316)3.53783738
10Acute necrotizing encephalopathy (HP:0006965)3.53690318
11Acute encephalopathy (HP:0006846)3.35875072
12Absent rod-and cone-mediated responses on ERG (HP:0007688)3.31215118
13Mitochondrial inheritance (HP:0001427)3.26066787
14Hypomagnesemia (HP:0002917)3.18057860
15Progressive macrocephaly (HP:0004481)3.07149858
16Choroideremia (HP:0001139)3.05554800
17B lymphocytopenia (HP:0010976)3.03413846
18Increased circulating renin level (HP:0000848)2.99640909
19Hepatic necrosis (HP:0002605)2.99303927
20Hyperinsulinemic hypoglycemia (HP:0000825)2.96450353
21Increased CSF lactate (HP:0002490)2.93684000
22Abnormality of lateral ventricle (HP:0030047)2.92553016
23Abnormality of magnesium homeostasis (HP:0004921)2.91324037
24Interstitial pulmonary disease (HP:0006530)2.80793091
25Tetany (HP:0001281)2.76727287
26Hepatocellular necrosis (HP:0001404)2.76523030
27Hypothermia (HP:0002045)2.75956857
28Acute hepatic failure (HP:0006554)2.57880235
29Prolonged neonatal jaundice (HP:0006579)2.55880304
30Vacuolated lymphocytes (HP:0001922)2.55686053
31Increased hepatocellular lipid droplets (HP:0006565)2.53711945
32Renal Fanconi syndrome (HP:0001994)2.51159367
33Increased intramyocellular lipid droplets (HP:0012240)2.49265841
34Abnormality of B cell number (HP:0010975)2.48645171
35Gastrointestinal infarctions (HP:0005244)2.44496758
36Mutism (HP:0002300)2.43282579
37Agammaglobulinemia (HP:0004432)2.43067760
38Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.37835438
39Ileus (HP:0002595)2.31654337
40Attenuation of retinal blood vessels (HP:0007843)2.30169331
41Arthropathy (HP:0003040)2.30069465
42Prolonged partial thromboplastin time (HP:0003645)2.29017173
43Hyperglycemia (HP:0003074)2.28856143
44Episodic fever (HP:0001954)2.27154722
45Progressive neurologic deterioration (HP:0002344)2.23076316
46Glycosuria (HP:0003076)2.20098066
47Abnormality of urine glucose concentration (HP:0011016)2.20098066
48Flat capital femoral epiphysis (HP:0003370)2.19437508
49Dysostosis multiplex (HP:0000943)2.18438791
50Palpitations (HP:0001962)2.16290890
51Ketoacidosis (HP:0001993)2.16053742
52Aplastic anemia (HP:0001915)2.12857404
53Generalized aminoaciduria (HP:0002909)2.12410113
54Lipid accumulation in hepatocytes (HP:0006561)2.09335137
55Cerebral edema (HP:0002181)2.03105690
56Hyperphosphaturia (HP:0003109)2.01044297
57Reduced antithrombin III activity (HP:0001976)1.99758462
58Increased muscle lipid content (HP:0009058)1.98695675
59Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.96911139
60Basal ganglia calcification (HP:0002135)1.96675060
61Insulin-resistant diabetes mellitus (HP:0000831)1.96338415
62Irregular vertebral endplates (HP:0003301)1.96243941
63Large for gestational age (HP:0001520)1.94701896
64Pancreatic islet-cell hyperplasia (HP:0004510)1.93926963
65Lactic acidosis (HP:0003128)1.93795678
66Hypoglycemic coma (HP:0001325)1.92818514
67Infantile muscular hypotonia (HP:0008947)1.91255979
68Abnormal number of erythroid precursors (HP:0012131)1.90497762
69Joint stiffness (HP:0001387)1.89708378
70Skin rash (HP:0000988)1.87736642
71Nuclear cataract (HP:0100018)1.87260885
72Metaphyseal irregularity (HP:0003025)1.87020959
73Hypoglycemic seizures (HP:0002173)1.86234007
74Tachypnea (HP:0002789)1.84920330
75Delayed CNS myelination (HP:0002188)1.84795096
76Respiratory failure (HP:0002878)1.84507269
77Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.81579827
78Increased serum lactate (HP:0002151)1.78092167
79Retinal dysplasia (HP:0007973)1.77295225
80Increased corneal curvature (HP:0100692)1.76516395
81Keratoconus (HP:0000563)1.76516395
82Severe visual impairment (HP:0001141)1.76301584
83Male infertility (HP:0003251)1.74890499
84Polydipsia (HP:0001959)1.74849993
85Abnormal drinking behavior (HP:0030082)1.74849993
86Tongue fasciculations (HP:0001308)1.74744911
87Decreased activity of mitochondrial respiratory chain (HP:0008972)1.72392913
88Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.72392913
89Abnormality of polysaccharide metabolism (HP:0011012)1.71509869
90Abnormality of glycosaminoglycan metabolism (HP:0004371)1.71509869
91Abnormality of mucopolysaccharide metabolism (HP:0011020)1.71509869
92Azoospermia (HP:0000027)1.68454512
93Abnormal urine phosphate concentration (HP:0012599)1.66963013
94Hypokinesia (HP:0002375)1.66874115
95Postural tremor (HP:0002174)1.66857349
96Decreased central vision (HP:0007663)1.65619529
97Lethargy (HP:0001254)1.64769056
98Abnormality of midbrain morphology (HP:0002418)1.62273453
99Molar tooth sign on MRI (HP:0002419)1.62273453
100Abnormal spermatogenesis (HP:0008669)1.61351044

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PRKD34.07368279
2ERN13.58300370
3LMTK23.43244207
4INSRR3.28121845
5EIF2AK13.08434379
6FLT32.68826740
7NME22.57321407
8IRAK32.54621381
9EPHA32.49904808
10MAP3K112.30917148
11VRK22.20419128
12STK162.11216511
13ADRBK22.09454958
14EIF2AK32.06069959
15LIMK12.02008415
16EPHB11.96877046
17GRK11.96573547
18MST41.83172413
19MAPKAPK31.80658015
20PKN21.79706701
21NME11.70300002
22TBK11.47439961
23ARAF1.46379511
24MAP3K121.41414705
25MAP3K11.41157766
26PIM21.41000397
27FRK1.39027569
28MAP2K61.35982316
29KDR1.34094007
30PRKG21.26294545
31SCYL21.21593853
32TAOK31.15610098
33FER1.14824839
34CDK81.14710896
35MAP4K11.14633852
36MYLK1.05498400
37PHKG11.03829677
38PHKG21.03829677
39NLK1.02464166
40BUB11.01075816
41TEC0.99556933
42HIPK20.96677541
43PLK20.95827574
44PASK0.94518625
45IKBKB0.93453157
46CAMK2D0.84775378
47IRAK10.81468865
48FGFR40.80176240
49KIT0.79866862
50CSNK1G30.79428111
51GRK60.78421126
52MAP4K20.75897038
53BCKDK0.75617598
54RPS6KA50.71872796
55IRAK40.71449659
56SYK0.71024442
57PAK40.69574385
58TESK10.66751613
59GRK50.65640343
60CAMK2G0.63988220
61CSNK1G20.62863548
62TLK10.62481787
63CSNK1G10.62451970
64DAPK10.61501640
65PRKD20.59549691
66PRKCE0.58118673
67ITK0.57734042
68NTRK30.56281475
69RET0.55793266
70CSF1R0.55319816
71GRK70.54224483
72ZAP700.52944739
73STK30.52702779
74WNK40.51850427
75PRKCI0.46962387
76IKBKE0.46667095
77MATK0.45885462
78NUAK10.45126035
79ABL10.44845574
80TRPM70.43524471
81CSNK1A10.42454425
82LYN0.42335816
83BTK0.41931110
84JAK30.38574094
85STK240.37589436
86MOS0.36448513
87CSNK1A1L0.35088360
88FGFR30.34848373
89PAK10.33801101
90TESK20.33470946
91JAK10.32457727
92PRKCD0.30898439
93CDK40.30890000
94MAPKAPK20.30745579
95MAP3K60.29585177
96PTK2B0.28025742
97ROCK10.27710464
98CAMK2B0.27386494
99TGFBR10.24730337
100JAK20.23711418

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.62629674
2Other glycan degradation_Homo sapiens_hsa005113.79688111
3Sulfur metabolism_Homo sapiens_hsa009203.77167783
4Oxidative phosphorylation_Homo sapiens_hsa001903.71410012
5Parkinsons disease_Homo sapiens_hsa050122.69928178
6Maturity onset diabetes of the young_Homo sapiens_hsa049502.59626762
7Sphingolipid metabolism_Homo sapiens_hsa006002.16994849
8Protein export_Homo sapiens_hsa030602.14769102
9Collecting duct acid secretion_Homo sapiens_hsa049662.13976302
10SNARE interactions in vesicular transport_Homo sapiens_hsa041302.12313053
11Primary bile acid biosynthesis_Homo sapiens_hsa001201.95601156
12Folate biosynthesis_Homo sapiens_hsa007901.92809525
13Peroxisome_Homo sapiens_hsa041461.89126288
14Alzheimers disease_Homo sapiens_hsa050101.87634644
15Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.87406294
16Butanoate metabolism_Homo sapiens_hsa006501.85466971
17Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.83731831
18Primary immunodeficiency_Homo sapiens_hsa053401.69489276
19One carbon pool by folate_Homo sapiens_hsa006701.68899573
20Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.67619794
21Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.65559934
22Mineral absorption_Homo sapiens_hsa049781.62499090
23Huntingtons disease_Homo sapiens_hsa050161.59445297
24Nitrogen metabolism_Homo sapiens_hsa009101.38292769
25Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.36822037
26Rheumatoid arthritis_Homo sapiens_hsa053231.35722464
27RNA polymerase_Homo sapiens_hsa030201.33216073
28Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.31726893
29Type I diabetes mellitus_Homo sapiens_hsa049401.27930170
30Selenocompound metabolism_Homo sapiens_hsa004501.25773993
31Regulation of autophagy_Homo sapiens_hsa041401.22994720
32Vibrio cholerae infection_Homo sapiens_hsa051101.21374446
33Ether lipid metabolism_Homo sapiens_hsa005651.14601153
34Arachidonic acid metabolism_Homo sapiens_hsa005901.13329475
35Glycosaminoglycan degradation_Homo sapiens_hsa005311.05176784
36Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.02940658
37Taste transduction_Homo sapiens_hsa047421.02784738
38Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.98881604
39Complement and coagulation cascades_Homo sapiens_hsa046100.98591611
40Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.98078052
41Linoleic acid metabolism_Homo sapiens_hsa005910.97652700
42Lysosome_Homo sapiens_hsa041420.96424614
43Legionellosis_Homo sapiens_hsa051340.94270825
44Homologous recombination_Homo sapiens_hsa034400.92703887
45Pyrimidine metabolism_Homo sapiens_hsa002400.92553211
46Glutathione metabolism_Homo sapiens_hsa004800.92243619
47Cardiac muscle contraction_Homo sapiens_hsa042600.91969818
48Pentose phosphate pathway_Homo sapiens_hsa000300.89744714
49Ribosome_Homo sapiens_hsa030100.84185733
50Fanconi anemia pathway_Homo sapiens_hsa034600.83544968
51Metabolic pathways_Homo sapiens_hsa011000.81972551
52Chemical carcinogenesis_Homo sapiens_hsa052040.80853041
53Hematopoietic cell lineage_Homo sapiens_hsa046400.79402646
54alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.77353306
55N-Glycan biosynthesis_Homo sapiens_hsa005100.76270993
56Purine metabolism_Homo sapiens_hsa002300.75583097
57Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.72751172
58Malaria_Homo sapiens_hsa051440.72368676
59Fructose and mannose metabolism_Homo sapiens_hsa000510.70063047
60Steroid hormone biosynthesis_Homo sapiens_hsa001400.68754979
61Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.68042215
62Pertussis_Homo sapiens_hsa051330.63907942
63RNA degradation_Homo sapiens_hsa030180.63083646
64Measles_Homo sapiens_hsa051620.62939468
65Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.62937236
66Mismatch repair_Homo sapiens_hsa034300.62812754
67Caffeine metabolism_Homo sapiens_hsa002320.62789984
68Tyrosine metabolism_Homo sapiens_hsa003500.62317632
69Staphylococcus aureus infection_Homo sapiens_hsa051500.60641122
70Phenylalanine metabolism_Homo sapiens_hsa003600.59864142
71Tryptophan metabolism_Homo sapiens_hsa003800.58476731
72Pancreatic secretion_Homo sapiens_hsa049720.57372769
73Antigen processing and presentation_Homo sapiens_hsa046120.56016043
74Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.55211976
75Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.52549597
76Nucleotide excision repair_Homo sapiens_hsa034200.51751147
77Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.49356822
78Base excision repair_Homo sapiens_hsa034100.48582242
79Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.46055417
80Shigellosis_Homo sapiens_hsa051310.45946160
81Synaptic vesicle cycle_Homo sapiens_hsa047210.45595772
82Retinol metabolism_Homo sapiens_hsa008300.45411266
83NF-kappa B signaling pathway_Homo sapiens_hsa040640.45169323
84Asthma_Homo sapiens_hsa053100.44153832
85Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.43616154
86Cysteine and methionine metabolism_Homo sapiens_hsa002700.43579738
87Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.43350009
88Prion diseases_Homo sapiens_hsa050200.39551028
89Drug metabolism - other enzymes_Homo sapiens_hsa009830.37830762
90Fatty acid elongation_Homo sapiens_hsa000620.36768992
91Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.33390155
92Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.33348871
93Vitamin digestion and absorption_Homo sapiens_hsa049770.33143077
94Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.31823372
95NOD-like receptor signaling pathway_Homo sapiens_hsa046210.28536971
96Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.28313088
97Histidine metabolism_Homo sapiens_hsa003400.27679794
98Glycerophospholipid metabolism_Homo sapiens_hsa005640.22109450
99Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.21819858
100Osteoclast differentiation_Homo sapiens_hsa043800.20439719

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