SLC52A1

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: Biological redox reactions require electron donors and acceptor. Vitamin B2 is the source for the flavin in flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN) which are common redox reagents. This gene encodes a member of the riboflavin (vitamin B2) transporter family. Haploinsufficiency of this protein can cause maternal riboflavin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1fucose catabolic process (GO:0019317)5.75290942
2L-fucose metabolic process (GO:0042354)5.75290942
3L-fucose catabolic process (GO:0042355)5.75290942
4behavioral response to nicotine (GO:0035095)5.37424588
5regulation of guanylate cyclase activity (GO:0031282)4.50613473
6exogenous drug catabolic process (GO:0042738)4.34043191
7positive regulation of guanylate cyclase activity (GO:0031284)4.30836883
8drug catabolic process (GO:0042737)4.00126648
9sulfation (GO:0051923)3.86191234
10negative regulation of telomere maintenance (GO:0032205)3.78432793
11DNA deamination (GO:0045006)3.68152310
12epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.64450396
13piRNA metabolic process (GO:0034587)3.58811205
14arginine metabolic process (GO:0006525)3.57116185
15tryptophan catabolic process (GO:0006569)3.35190115
16indole-containing compound catabolic process (GO:0042436)3.35190115
17indolalkylamine catabolic process (GO:0046218)3.35190115
18respiratory chain complex IV assembly (GO:0008535)3.34770851
19regulation of memory T cell differentiation (GO:0043380)3.29073654
20response to pheromone (GO:0019236)3.25035227
21arginine catabolic process (GO:0006527)3.21121732
22platelet dense granule organization (GO:0060155)3.20350751
23fucosylation (GO:0036065)3.17136209
24indolalkylamine metabolic process (GO:0006586)3.15145905
25cytidine deamination (GO:0009972)3.15037265
26cytidine metabolic process (GO:0046087)3.15037265
27cytidine catabolic process (GO:0006216)3.15037265
28detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.14670350
29epithelial cilium movement (GO:0003351)3.13673331
30detection of light stimulus involved in visual perception (GO:0050908)3.12927645
31detection of light stimulus involved in sensory perception (GO:0050962)3.12927645
32axoneme assembly (GO:0035082)3.12113917
33regulation of neurotransmitter uptake (GO:0051580)3.10866650
34cellular ketone body metabolic process (GO:0046950)3.09791485
35positive regulation of fatty acid transport (GO:2000193)3.09390899
36phosphatidylinositol acyl-chain remodeling (GO:0036149)3.07384525
37positive regulation of defense response to virus by host (GO:0002230)3.04361194
38cytochrome complex assembly (GO:0017004)3.04194116
39regulation of cGMP biosynthetic process (GO:0030826)2.98821176
40kynurenine metabolic process (GO:0070189)2.97490595
41regulation of nuclear cell cycle DNA replication (GO:0033262)2.89367184
42regulation of cilium movement (GO:0003352)2.89068698
43regulation of cGMP metabolic process (GO:0030823)2.84630601
44positive regulation of icosanoid secretion (GO:0032305)2.83985299
45purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.81869626
463-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.81869626
47neuronal action potential (GO:0019228)2.80080464
48amine catabolic process (GO:0009310)2.79134412
49cellular biogenic amine catabolic process (GO:0042402)2.79134412
50positive regulation of cGMP biosynthetic process (GO:0030828)2.78302576
51ketone body metabolic process (GO:1902224)2.77646781
52positive regulation of prostaglandin secretion (GO:0032308)2.76829829
53protein polyglutamylation (GO:0018095)2.75837556
54pyrimidine ribonucleoside catabolic process (GO:0046133)2.75059293
55photoreceptor cell maintenance (GO:0045494)2.72694975
56regulation of action potential (GO:0098900)2.71632556
57water-soluble vitamin biosynthetic process (GO:0042364)2.71258353
58cilium or flagellum-dependent cell motility (GO:0001539)2.70514785
59tryptophan metabolic process (GO:0006568)2.69996404
60multicellular organism reproduction (GO:0032504)2.69996218
61kidney morphogenesis (GO:0060993)2.69661892
62phosphatidylserine acyl-chain remodeling (GO:0036150)2.68774108
63DNA methylation involved in gamete generation (GO:0043046)2.66182988
64reflex (GO:0060004)2.66170066
65cilium movement (GO:0003341)2.65972014
66positive regulation of sodium ion transmembrane transport (GO:1902307)2.61014004
67rhodopsin mediated signaling pathway (GO:0016056)2.60686827
68thyroid hormone metabolic process (GO:0042403)2.60188386
69male meiosis (GO:0007140)2.58727245
70alkaloid metabolic process (GO:0009820)2.57015367
71positive regulation of cell fate commitment (GO:0010455)2.56676495
72quinone biosynthetic process (GO:1901663)2.55952326
73regulation of rhodopsin mediated signaling pathway (GO:0022400)2.55439824
74auditory receptor cell stereocilium organization (GO:0060088)2.54248280
75cornea development in camera-type eye (GO:0061303)2.53289690
76protein complex biogenesis (GO:0070271)2.52095699
77regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)2.51514120
78phosphatidylethanolamine acyl-chain remodeling (GO:0036152)2.51084991
79negative regulation of mast cell activation (GO:0033004)2.50668139
80protein-cofactor linkage (GO:0018065)2.50581738
81indole-containing compound metabolic process (GO:0042430)2.48904144
82drug metabolic process (GO:0017144)2.46396830
83positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)2.46323585
84neurotransmitter metabolic process (GO:0042133)2.46199067
85neurofilament cytoskeleton organization (GO:0060052)2.45206312
86glycerophospholipid catabolic process (GO:0046475)2.45009250
87primary amino compound metabolic process (GO:1901160)2.44947122
88proline transport (GO:0015824)2.44470801
89sulfate transmembrane transport (GO:1902358)2.44297550
90transepithelial transport (GO:0070633)2.44256422
91parturition (GO:0007567)2.44112838
92somite development (GO:0061053)2.43592132
93synaptic transmission, cholinergic (GO:0007271)2.42513537
94DNA demethylation (GO:0080111)2.40457864
95male meiosis I (GO:0007141)2.40206004
96gamma-aminobutyric acid transport (GO:0015812)2.39614958
97behavioral response to ethanol (GO:0048149)2.35589446
98fucose metabolic process (GO:0006004)2.35449343
99organic cation transport (GO:0015695)2.35225251
100reciprocal DNA recombination (GO:0035825)2.32149729

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ZNF274_21170338_ChIP-Seq_K562_Hela4.08184661
2EZH2_22144423_ChIP-Seq_EOC_Human3.69336451
3VDR_22108803_ChIP-Seq_LS180_Human3.55917030
4GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.53901198
5GBX2_23144817_ChIP-Seq_PC3_Human2.53421341
6IGF1R_20145208_ChIP-Seq_DFB_Human2.52511665
7ZFP57_27257070_Chip-Seq_ESCs_Mouse2.37803571
8CTBP2_25329375_ChIP-Seq_LNCAP_Human2.16466343
9GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.15083179
10FLI1_27457419_Chip-Seq_LIVER_Mouse1.99014711
11POU3F2_20337985_ChIP-ChIP_501MEL_Human1.94575925
12EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.88015732
13CTBP1_25329375_ChIP-Seq_LNCAP_Human1.86463686
14FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.78205186
15P300_19829295_ChIP-Seq_ESCs_Human1.71983861
16TAF15_26573619_Chip-Seq_HEK293_Human1.68632480
17PCGF2_27294783_Chip-Seq_ESCs_Mouse1.68413787
18ER_23166858_ChIP-Seq_MCF-7_Human1.67416923
19SALL1_21062744_ChIP-ChIP_HESCs_Human1.63557243
20FUS_26573619_Chip-Seq_HEK293_Human1.63100379
21EWS_26573619_Chip-Seq_HEK293_Human1.62791940
22BCAT_22108803_ChIP-Seq_LS180_Human1.55007517
23HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.53313812
24NR3C1_21868756_ChIP-Seq_MCF10A_Human1.50812257
25AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.49297476
26E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.47239446
27TP53_22573176_ChIP-Seq_HFKS_Human1.47114791
28TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.45955811
29BMI1_23680149_ChIP-Seq_NPCS_Mouse1.45691039
30PIAS1_25552417_ChIP-Seq_VCAP_Human1.44996098
31MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.44371783
32IRF1_19129219_ChIP-ChIP_H3396_Human1.43685910
33IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.43391259
34CBP_20019798_ChIP-Seq_JUKART_Human1.43391259
35FOXA1_25329375_ChIP-Seq_VCAP_Human1.43263827
36FOXA1_27270436_Chip-Seq_PROSTATE_Human1.43263827
37NANOG_19829295_ChIP-Seq_ESCs_Human1.41799090
38SOX2_19829295_ChIP-Seq_ESCs_Human1.41799090
39HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.41787650
40UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.41785796
41AR_25329375_ChIP-Seq_VCAP_Human1.41100541
42REST_21632747_ChIP-Seq_MESCs_Mouse1.40741533
43STAT3_23295773_ChIP-Seq_U87_Human1.39914296
44GATA3_21878914_ChIP-Seq_MCF-7_Human1.35729207
45TCF4_22108803_ChIP-Seq_LS180_Human1.35694367
46PCGF2_27294783_Chip-Seq_NPCs_Mouse1.34469575
47EGR1_23403033_ChIP-Seq_LIVER_Mouse1.31869037
48SMAD4_21799915_ChIP-Seq_A2780_Human1.31270551
49EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.30772965
50SUZ12_27294783_Chip-Seq_NPCs_Mouse1.30356544
51ETV2_25802403_ChIP-Seq_MESCs_Mouse1.29605766
52SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.29524384
53TCF4_23295773_ChIP-Seq_U87_Human1.28626332
54CBX2_27304074_Chip-Seq_ESCs_Mouse1.28223234
55GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.28205475
56PRDM14_20953172_ChIP-Seq_ESCs_Human1.27903651
57NCOR_22424771_ChIP-Seq_293T_Human1.27754275
58SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.26842392
59NFE2_27457419_Chip-Seq_LIVER_Mouse1.25903470
60MYC_18940864_ChIP-ChIP_HL60_Human1.25790442
61MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.25445409
62CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.23995823
63TAF2_19829295_ChIP-Seq_ESCs_Human1.23606753
64FOXA1_21572438_ChIP-Seq_LNCaP_Human1.23266261
65CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.22493469
66SMAD3_21741376_ChIP-Seq_EPCs_Human1.20848968
67ERA_21632823_ChIP-Seq_H3396_Human1.19853577
68KLF5_20875108_ChIP-Seq_MESCs_Mouse1.19146388
69SMAD4_21741376_ChIP-Seq_EPCs_Human1.19082453
70CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.18383042
71HOXB7_26014856_ChIP-Seq_BT474_Human1.17601815
72AR_20517297_ChIP-Seq_VCAP_Human1.16779115
73EZH2_27294783_Chip-Seq_NPCs_Mouse1.16766794
74AUTS2_25519132_ChIP-Seq_293T-REX_Human1.16372077
75NANOG_20526341_ChIP-Seq_ESCs_Human1.15792108
76TOP2B_26459242_ChIP-Seq_MCF-7_Human1.15624661
77NOTCH1_21737748_ChIP-Seq_TLL_Human1.14239440
78RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.13257330
79RNF2_27304074_Chip-Seq_NSC_Mouse1.11317708
80MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.09329858
81CDX2_22108803_ChIP-Seq_LS180_Human1.09089680
82MYC_19829295_ChIP-Seq_ESCs_Human1.08940065
83PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.08589561
84PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.07766569
85RUNX2_22187159_ChIP-Seq_PCA_Human1.06691959
86TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06189170
87POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.06189170
88GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human1.03691023
89P53_21459846_ChIP-Seq_SAOS-2_Human1.02248565
90CRX_20693478_ChIP-Seq_RETINA_Mouse1.01585502
91TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.01369600
92OCT4_20526341_ChIP-Seq_ESCs_Human1.01157741
93FOXH1_21741376_ChIP-Seq_ESCs_Human1.00744790
94EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.00003994
95DROSHA_22980978_ChIP-Seq_HELA_Human0.99674285
96ETV1_20927104_ChIP-Seq_GIST48_Human0.99558557
97BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.98634114
98SMAD3_21741376_ChIP-Seq_ESCs_Human0.97101251
99TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.96993089
100CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.96617570

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005360_urolithiasis3.15767060
2MP0005645_abnormal_hypothalamus_physiol3.08710726
3MP0003646_muscle_fatigue3.07918111
4MP0008875_abnormal_xenobiotic_pharmacok2.79945837
5MP0004147_increased_porphyrin_level2.71224216
6MP0004043_abnormal_pH_regulation2.63315389
7MP0002876_abnormal_thyroid_physiology2.63217913
8MP0008872_abnormal_physiological_respon2.44488998
9MP0002234_abnormal_pharynx_morphology2.36105573
10MP0003195_calcinosis2.32894056
11MP0001986_abnormal_taste_sensitivity2.30346069
12MP0004885_abnormal_endolymph2.27223008
13MP0005551_abnormal_eye_electrophysiolog2.22264675
14MP0000566_synostosis2.15807783
15MP0008877_abnormal_DNA_methylation2.10231423
16MP0002102_abnormal_ear_morphology2.09819607
17MP0001501_abnormal_sleep_pattern2.05711032
18MP0002837_dystrophic_cardiac_calcinosis1.97620340
19MP0000569_abnormal_digit_pigmentation1.92024810
20MP0001968_abnormal_touch/_nociception1.90612623
21MP0005085_abnormal_gallbladder_physiolo1.87489458
22MP0002638_abnormal_pupillary_reflex1.71116571
23MP0004019_abnormal_vitamin_homeostasis1.69150743
24MP0009046_muscle_twitch1.67108045
25MP0009745_abnormal_behavioral_response1.66847338
26MP0005646_abnormal_pituitary_gland1.65373460
27MP0002736_abnormal_nociception_after1.61567967
28MP0003718_maternal_effect1.60147066
29MP0004142_abnormal_muscle_tone1.55528284
30MP0003283_abnormal_digestive_organ1.55171877
31MP0001485_abnormal_pinna_reflex1.52692266
32MP0001664_abnormal_digestion1.45262126
33MP0002272_abnormal_nervous_system1.43336357
34MP0001764_abnormal_homeostasis1.41077132
35MP0000427_abnormal_hair_cycle1.39538807
36MP0005174_abnormal_tail_pigmentation1.38017873
37MP0005332_abnormal_amino_acid1.37231939
38MP0002735_abnormal_chemical_nociception1.34788377
39MP0004742_abnormal_vestibular_system1.34591401
40MP0005389_reproductive_system_phenotype1.30482186
41MP0006072_abnormal_retinal_apoptosis1.30390098
42MP0004133_heterotaxia1.29835863
43MP0001919_abnormal_reproductive_system1.28380581
44MP0006276_abnormal_autonomic_nervous1.26261736
45MP0010329_abnormal_lipoprotein_level1.26226699
46MP0001970_abnormal_pain_threshold1.22459514
47MP0003011_delayed_dark_adaptation1.21473862
48MP0008995_early_reproductive_senescence1.21305670
49MP0001666_abnormal_nutrient_absorption1.20714422
50MP0000631_abnormal_neuroendocrine_gland1.19770048
51MP0006292_abnormal_olfactory_placode1.19352141
52MP0002653_abnormal_ependyma_morphology1.15838198
53MP0010386_abnormal_urinary_bladder1.15806369
54MP0005253_abnormal_eye_physiology1.15304258
55MP0008775_abnormal_heart_ventricle1.15021708
56MP0000538_abnormal_urinary_bladder1.14844048
57MP0004145_abnormal_muscle_electrophysio1.13781750
58MP0000372_irregular_coat_pigmentation1.10943275
59MP0002733_abnormal_thermal_nociception1.10890997
60MP0001486_abnormal_startle_reflex1.10355372
61MP0002572_abnormal_emotion/affect_behav1.10214185
62MP0005365_abnormal_bile_salt1.09291969
63MP0002064_seizures1.08839317
64MP0000230_abnormal_systemic_arterial1.07861851
65MP0001905_abnormal_dopamine_level1.07454462
66MP0001873_stomach_inflammation1.06589734
67MP0005167_abnormal_blood-brain_barrier1.05150434
68MP0002557_abnormal_social/conspecific_i1.05098043
69MP0001765_abnormal_ion_homeostasis1.03668877
70MP0005084_abnormal_gallbladder_morpholo1.02341220
71MP0003880_abnormal_central_pattern1.01393783
72MP0002938_white_spotting1.00957548
73MP0003787_abnormal_imprinting1.00806806
74MP0002160_abnormal_reproductive_system1.00340285
75MP0000383_abnormal_hair_follicle0.99037973
76MP0005377_hearing/vestibular/ear_phenot0.97568402
77MP0003878_abnormal_ear_physiology0.97568402
78MP0005636_abnormal_mineral_homeostasis0.96819718
79MP0003136_yellow_coat_color0.95291284
80MP0005671_abnormal_response_to0.95212673
81MP0003252_abnormal_bile_duct0.93834944
82MP0001756_abnormal_urination0.93191583
83MP0001440_abnormal_grooming_behavior0.93143602
84MP0002067_abnormal_sensory_capabilities0.91017670
85MP0002277_abnormal_respiratory_mucosa0.89690245
86MP0001984_abnormal_olfaction0.88903176
87MP0004924_abnormal_behavior0.88381957
88MP0005386_behavior/neurological_phenoty0.88381957
89MP0002734_abnormal_mechanical_nocicepti0.85698012
90MP0002138_abnormal_hepatobiliary_system0.85585733
91MP0002139_abnormal_hepatobiliary_system0.83149415
92MP0000026_abnormal_inner_ear0.81338926
93MP0009643_abnormal_urine_homeostasis0.81223443
94MP0005410_abnormal_fertilization0.79335029
95MP0002063_abnormal_learning/memory/cond0.78464993
96MP0009764_decreased_sensitivity_to0.77356733
97MP0001663_abnormal_digestive_system0.74643626
98MP0002095_abnormal_skin_pigmentation0.72957026
99MP0001188_hyperpigmentation0.72801564
100MP0002163_abnormal_gland_morphology0.72247337

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)4.28721395
2Congenital stationary night blindness (HP:0007642)4.10226273
3Abnormality of midbrain morphology (HP:0002418)3.84482736
4Molar tooth sign on MRI (HP:0002419)3.84482736
5Abnormality of the renal cortex (HP:0011035)3.72409380
6Pancreatic fibrosis (HP:0100732)3.63886517
7True hermaphroditism (HP:0010459)3.54187704
8Nephronophthisis (HP:0000090)3.33080120
9Renal cortical cysts (HP:0000803)3.06317074
10Abnormality of the renal medulla (HP:0100957)3.03842854
11Congenital sensorineural hearing impairment (HP:0008527)2.98295998
12Abnormal rod and cone electroretinograms (HP:0008323)2.92737754
13Autoimmune thrombocytopenia (HP:0001973)2.82293850
14Attenuation of retinal blood vessels (HP:0007843)2.81156371
15Abnormality of glutamine family amino acid metabolism (HP:0010902)2.80074969
16Medial flaring of the eyebrow (HP:0010747)2.77160497
17Tubular atrophy (HP:0000092)2.74879654
18Hyperventilation (HP:0002883)2.72924073
19Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.71752701
20Abnormality of alanine metabolism (HP:0010916)2.71752701
21Hyperalaninemia (HP:0003348)2.71752701
22Decreased circulating renin level (HP:0003351)2.67052028
23Type II lissencephaly (HP:0007260)2.62339314
24Pendular nystagmus (HP:0012043)2.58909152
25Abolished electroretinogram (ERG) (HP:0000550)2.57268088
26Cystic liver disease (HP:0006706)2.53773111
27Abnormal respiratory epithelium morphology (HP:0012253)2.53357995
28Abnormal respiratory motile cilium morphology (HP:0005938)2.53357995
29Abnormal drinking behavior (HP:0030082)2.52388940
30Polydipsia (HP:0001959)2.52388940
31Stomach cancer (HP:0012126)2.44027551
32Hyperglycinuria (HP:0003108)2.41348534
33Dynein arm defect of respiratory motile cilia (HP:0012255)2.38867514
34Absent/shortened dynein arms (HP:0200106)2.38867514
35Absent rod-and cone-mediated responses on ERG (HP:0007688)2.35425349
36Decreased central vision (HP:0007663)2.34132735
37Keratoconus (HP:0000563)2.30963269
38Increased corneal curvature (HP:0100692)2.30963269
39Abnormality of proline metabolism (HP:0010907)2.30190388
40Hydroxyprolinuria (HP:0003080)2.30190388
41Chronic hepatic failure (HP:0100626)2.26336444
42Glycosuria (HP:0003076)2.25774016
43Abnormality of urine glucose concentration (HP:0011016)2.25774016
44Concave nail (HP:0001598)2.24817101
45Congenital, generalized hypertrichosis (HP:0004540)2.18187216
46Decreased electroretinogram (ERG) amplitude (HP:0000654)2.14442416
47Gait imbalance (HP:0002141)2.11691827
48Confusion (HP:0001289)2.11473779
49Large for gestational age (HP:0001520)2.09957091
50Abnormal biliary tract physiology (HP:0012439)2.09883931
51Bile duct proliferation (HP:0001408)2.09883931
52Furrowed tongue (HP:0000221)2.08319866
53Congenital primary aphakia (HP:0007707)2.06762234
54Polyuria (HP:0000103)2.06711866
55Abnormality of vitamin B metabolism (HP:0004340)2.05114925
56Genetic anticipation (HP:0003743)2.05092701
57Gaze-evoked nystagmus (HP:0000640)2.04903163
58Nephrogenic diabetes insipidus (HP:0009806)2.04300435
59Abnormality of the renal collecting system (HP:0004742)2.02532519
60Chorioretinal atrophy (HP:0000533)2.01790421
61Hypothermia (HP:0002045)2.00877473
62Progressive cerebellar ataxia (HP:0002073)2.00541267
63Duplicated collecting system (HP:0000081)1.96863260
64Inability to walk (HP:0002540)1.96852363
65Sclerocornea (HP:0000647)1.96455444
66Congenital hepatic fibrosis (HP:0002612)1.92226666
67Absent thumb (HP:0009777)1.89844168
68Abnormal urine output (HP:0012590)1.89517173
69Ectopic kidney (HP:0000086)1.88957912
70Abnormality of glycine metabolism (HP:0010895)1.88722222
71Abnormality of serine family amino acid metabolism (HP:0010894)1.88722222
72Abnormality of the vitamin B12 metabolism (HP:0004341)1.88601736
73Metabolic alkalosis (HP:0200114)1.86983084
74Hypoalbuminemia (HP:0003073)1.86749011
75Abnormal albumin level (HP:0012116)1.86749011
76Male pseudohermaphroditism (HP:0000037)1.86247696
773-Methylglutaconic aciduria (HP:0003535)1.85705641
78Enlarged epiphyses (HP:0010580)1.85138911
79Alkalosis (HP:0001948)1.83622777
80Abnormal ciliary motility (HP:0012262)1.83197008
81Cerebellar dysplasia (HP:0007033)1.82790607
82Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.81683014
83Aplasia/Hypoplasia of the tibia (HP:0005772)1.81154822
84Methylmalonic aciduria (HP:0012120)1.81103390
85Lissencephaly (HP:0001339)1.80583747
86Mitochondrial inheritance (HP:0001427)1.78972986
87Abnormality of renal excretion (HP:0011036)1.78679300
88Aplasia/Hypoplasia of the spleen (HP:0010451)1.78332932
89Broad-based gait (HP:0002136)1.77233907
90Abnormal respiratory motile cilium physiology (HP:0012261)1.77029862
91Tachypnea (HP:0002789)1.76735383
92Bony spicule pigmentary retinopathy (HP:0007737)1.76601878
93Febrile seizures (HP:0002373)1.76043748
94Hypoplasia of the fovea (HP:0007750)1.75749861
95Aplasia/Hypoplasia of the fovea (HP:0008060)1.75749861
96Abnormality of renin-angiotensin system (HP:0000847)1.74977802
97Increased CSF lactate (HP:0002490)1.74607525
98Thyroid-stimulating hormone excess (HP:0002925)1.73458089
99Optic disc pallor (HP:0000543)1.71830610
100Lethargy (HP:0001254)1.71073794

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK4.50251816
2TAOK33.87905585
3ADRBK23.51973054
4ACVR1B3.49917545
5TLK12.97024998
6WNK42.91515908
7PINK12.89980421
8BMPR1B2.87373212
9MAP4K22.76021447
10ZAK2.58622520
11TXK2.46994774
12GRK12.38423720
13STK392.32225227
14WNK32.14204954
15CASK1.91567490
16NUAK11.82316751
17OXSR11.75686921
18STK241.74087476
19MAPK131.74069200
20DAPK21.72183840
21INSRR1.53893294
22TNIK1.49210332
23PIK3CA1.47209510
24MAP4K11.44008499
25ADRBK11.19337813
26MAPKAPK31.17278580
27BCKDK1.15487959
28MAPK151.06698116
29TIE11.05557227
30MAP3K41.02970474
31PRKCQ1.00198540
32PRKCG0.99233631
33MAP2K60.94960158
34TGFBR10.88388960
35PRKCE0.87617938
36PAK30.86732815
37KIT0.86029053
38TRIM280.82857547
39CAMKK20.82801073
40PNCK0.82742715
41PRKCI0.80505119
42NME10.79410271
43MUSK0.77647257
44CSNK1G10.75030684
45MAPKAPK50.71635489
46JAK30.71240479
47STK38L0.69550355
48NTRK30.68562390
49MAP3K20.67936631
50DYRK20.67676380
51CDK190.67387658
52CAMK10.66581123
53EPHA40.65272924
54TEC0.64613571
55CSNK1G30.61795092
56NLK0.61137671
57BCR0.59961620
58MARK10.59959159
59PTK2B0.59573137
60MAP2K70.57598361
61CSNK1G20.57484826
62ITK0.56222154
63IKBKB0.55233968
64NTRK20.54757196
65MKNK20.53979586
66PHKG10.53935310
67PHKG20.53935310
68CAMK2A0.52654325
69IRAK10.52480134
70PRKCZ0.51647391
71CCNB10.51388231
72GRK70.50912085
73TRPM70.50891635
74MATK0.50816877
75WNK10.46908153
76PRKACA0.46311318
77PRKCA0.45881437
78RPS6KA60.45481767
79CSNK1A1L0.42089872
80FER0.40243148
81MST40.39524400
82CSNK1A10.38137270
83STK110.38070554
84RPS6KA50.36429624
85VRK10.36316761
86BRSK20.35614185
87SYK0.35281406
88IGF1R0.33676920
89TNK20.33241210
90EPHA30.32283210
91CAMK40.30327748
92ERBB20.30017928
93PLK40.29634634
94GRK60.29509566
95OBSCN0.29505430
96PRKG20.29007505
97PKN10.28529808
98MINK10.26070133
99MAP2K20.25928583
100PRKAA20.24898325

Predicted pathways (KEGG)

RankGene SetZ-score
1Linoleic acid metabolism_Homo sapiens_hsa005913.25843737
2alpha-Linolenic acid metabolism_Homo sapiens_hsa005923.03100227
3Caffeine metabolism_Homo sapiens_hsa002322.78430579
4Phototransduction_Homo sapiens_hsa047442.73151958
5Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.65738141
6Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.52437451
7Fat digestion and absorption_Homo sapiens_hsa049752.26696062
8Maturity onset diabetes of the young_Homo sapiens_hsa049502.19930252
9Ether lipid metabolism_Homo sapiens_hsa005652.16906630
10Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.05289344
11Butanoate metabolism_Homo sapiens_hsa006501.98882287
12Nitrogen metabolism_Homo sapiens_hsa009101.98232004
13Selenocompound metabolism_Homo sapiens_hsa004501.88700566
14Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.87105382
15Cyanoamino acid metabolism_Homo sapiens_hsa004601.74687435
16Vitamin digestion and absorption_Homo sapiens_hsa049771.74557674
17Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.72361528
18Chemical carcinogenesis_Homo sapiens_hsa052041.70500851
19Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.68240954
20Intestinal immune network for IgA production_Homo sapiens_hsa046721.65692752
21Tryptophan metabolism_Homo sapiens_hsa003801.65588696
22Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.58496823
23Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.57186266
24Arachidonic acid metabolism_Homo sapiens_hsa005901.55737152
25Nicotine addiction_Homo sapiens_hsa050331.55658878
26Oxidative phosphorylation_Homo sapiens_hsa001901.53392710
27Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.51593874
28Steroid hormone biosynthesis_Homo sapiens_hsa001401.50610039
29Retinol metabolism_Homo sapiens_hsa008301.38455916
30Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.37123042
31Asthma_Homo sapiens_hsa053101.32242466
32Histidine metabolism_Homo sapiens_hsa003401.32171951
33Mineral absorption_Homo sapiens_hsa049781.32028918
34Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.30929845
35Peroxisome_Homo sapiens_hsa041461.14736098
36ABC transporters_Homo sapiens_hsa020101.10884989
37Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.10537547
38Taste transduction_Homo sapiens_hsa047421.09823864
39Type I diabetes mellitus_Homo sapiens_hsa049401.08937087
40Propanoate metabolism_Homo sapiens_hsa006401.08471731
41Allograft rejection_Homo sapiens_hsa053301.06935431
42Graft-versus-host disease_Homo sapiens_hsa053321.05221122
43Parkinsons disease_Homo sapiens_hsa050121.05056860
44Sulfur metabolism_Homo sapiens_hsa009201.03223360
45Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.03167034
46Glycerolipid metabolism_Homo sapiens_hsa005611.03160244
47Olfactory transduction_Homo sapiens_hsa047401.01561235
48Autoimmune thyroid disease_Homo sapiens_hsa053201.01281685
49Primary bile acid biosynthesis_Homo sapiens_hsa001201.00344599
50Arginine biosynthesis_Homo sapiens_hsa002200.99369333
51Pentose and glucuronate interconversions_Homo sapiens_hsa000400.98232025
52Basal transcription factors_Homo sapiens_hsa030220.95683626
53Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.94506214
54Protein export_Homo sapiens_hsa030600.91923486
55Ovarian steroidogenesis_Homo sapiens_hsa049130.84917602
56Morphine addiction_Homo sapiens_hsa050320.84639835
57Renin-angiotensin system_Homo sapiens_hsa046140.82748409
58Insulin secretion_Homo sapiens_hsa049110.82286025
59Serotonergic synapse_Homo sapiens_hsa047260.81450708
60Drug metabolism - other enzymes_Homo sapiens_hsa009830.80953634
61Homologous recombination_Homo sapiens_hsa034400.77950286
62Salivary secretion_Homo sapiens_hsa049700.77647982
63Fanconi anemia pathway_Homo sapiens_hsa034600.77370603
64Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.77164046
65Carbohydrate digestion and absorption_Homo sapiens_hsa049730.76470730
66Cardiac muscle contraction_Homo sapiens_hsa042600.74798404
67Primary immunodeficiency_Homo sapiens_hsa053400.72897146
68beta-Alanine metabolism_Homo sapiens_hsa004100.72423902
69Arginine and proline metabolism_Homo sapiens_hsa003300.71820898
70Regulation of autophagy_Homo sapiens_hsa041400.70188174
71Circadian entrainment_Homo sapiens_hsa047130.69163247
72Protein digestion and absorption_Homo sapiens_hsa049740.65421608
73Huntingtons disease_Homo sapiens_hsa050160.62714902
74Alzheimers disease_Homo sapiens_hsa050100.60513255
75RNA polymerase_Homo sapiens_hsa030200.60240166
76Metabolic pathways_Homo sapiens_hsa011000.60196010
77Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.59748692
78Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.59428001
79Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.58131241
80Starch and sucrose metabolism_Homo sapiens_hsa005000.57415078
81Glycerophospholipid metabolism_Homo sapiens_hsa005640.56535437
82Glutamatergic synapse_Homo sapiens_hsa047240.54389796
83Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.52167431
84Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.51608539
85GABAergic synapse_Homo sapiens_hsa047270.50879573
86Bile secretion_Homo sapiens_hsa049760.50774483
87One carbon pool by folate_Homo sapiens_hsa006700.49922411
88Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.48403088
89Fatty acid degradation_Homo sapiens_hsa000710.46542203
90Dopaminergic synapse_Homo sapiens_hsa047280.46190082
91Collecting duct acid secretion_Homo sapiens_hsa049660.45728700
92Tyrosine metabolism_Homo sapiens_hsa003500.43853695
93Sphingolipid metabolism_Homo sapiens_hsa006000.43707501
94Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.43076673
95Calcium signaling pathway_Homo sapiens_hsa040200.40602387
96RNA degradation_Homo sapiens_hsa030180.39122232
97Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.38618180
98Purine metabolism_Homo sapiens_hsa002300.38059185
99Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.37431523
100PPAR signaling pathway_Homo sapiens_hsa033200.35684384

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