UGT1A7

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 UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has moderate glucuronidase activity with phenols. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1daunorubicin metabolic process (GO:0044597)8.25548297
2polyketide metabolic process (GO:0030638)8.25548297
3doxorubicin metabolic process (GO:0044598)8.25548297
4aminoglycoside antibiotic metabolic process (GO:0030647)7.31675693
5primary alcohol catabolic process (GO:0034310)5.87740909
6keratinization (GO:0031424)5.13372515
7tachykinin receptor signaling pathway (GO:0007217)5.01159402
8coenzyme catabolic process (GO:0009109)4.91002089
9establishment of skin barrier (GO:0061436)4.88617566
10desmosome organization (GO:0002934)4.73883228
11* flavonoid metabolic process (GO:0009812)4.54148241
12keratinocyte differentiation (GO:0030216)4.46618009
13fat-soluble vitamin catabolic process (GO:0042363)4.45603803
14vitamin catabolic process (GO:0009111)4.45603803
15quinone metabolic process (GO:1901661)4.43247175
16lateral sprouting from an epithelium (GO:0060601)4.26127525
17smooth muscle tissue development (GO:0048745)4.19921594
18transepithelial transport (GO:0070633)4.13187173
19intestinal epithelial cell development (GO:0060576)4.10098971
20* cellular glucuronidation (GO:0052695)4.09046179
21positive regulation of digestive system process (GO:0060456)4.08391226
22keratinocyte proliferation (GO:0043616)4.02967059
23* uronic acid metabolic process (GO:0006063)3.94983064
24* glucuronate metabolic process (GO:0019585)3.94983064
25regulation of water loss via skin (GO:0033561)3.79865420
26positive regulation of amino acid transport (GO:0051957)3.76318667
27cofactor catabolic process (GO:0051187)3.70011041
28keratinocyte development (GO:0003334)3.69019651
29establishment of tissue polarity (GO:0007164)3.66692415
30establishment of planar polarity (GO:0001736)3.66692415
31response to nitrosative stress (GO:0051409)3.65509266
32response to pheromone (GO:0019236)3.58118878
33xenobiotic catabolic process (GO:0042178)3.55474334
34regulation of keratinocyte proliferation (GO:0010837)3.55101497
35peptide cross-linking (GO:0018149)3.47909728
36dopamine transport (GO:0015872)3.35612663
37epidermal cell differentiation (GO:0009913)3.34475305
38retinal metabolic process (GO:0042574)3.30894797
39negative regulation of keratinocyte proliferation (GO:0010839)3.28136914
40neural tube formation (GO:0001841)3.26223564
41indole-containing compound catabolic process (GO:0042436)3.25571741
42indolalkylamine catabolic process (GO:0046218)3.25571741
43tryptophan catabolic process (GO:0006569)3.25571741
44kynurenine metabolic process (GO:0070189)3.24408822
45glycoside metabolic process (GO:0016137)3.23292898
46detection of light stimulus involved in visual perception (GO:0050908)3.22946454
47detection of light stimulus involved in sensory perception (GO:0050962)3.22946454
48* retinoic acid metabolic process (GO:0042573)3.22246815
49polarized epithelial cell differentiation (GO:0030859)3.21212530
50sympathetic nervous system development (GO:0048485)3.20047341
51ethanol oxidation (GO:0006069)3.16812483
52indolalkylamine metabolic process (GO:0006586)3.13310328
53bundle of His cell to Purkinje myocyte communication (GO:0086069)3.07716144
54negative regulation of neurotransmitter transport (GO:0051589)3.01095627
55benzene-containing compound metabolic process (GO:0042537)3.00499910
56tryptophan metabolic process (GO:0006568)2.99805362
57negative regulation of neurotransmitter secretion (GO:0046929)2.99268616
58DNA double-strand break processing (GO:0000729)2.99224703
59L-fucose catabolic process (GO:0042355)2.96008624
60fucose catabolic process (GO:0019317)2.96008624
61L-fucose metabolic process (GO:0042354)2.96008624
62platelet dense granule organization (GO:0060155)2.94270081
63DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla2.94173981
64ethanol metabolic process (GO:0006067)2.92045952
65detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.88917268
66regulation of mesoderm development (GO:2000380)2.87385486
67branched-chain amino acid catabolic process (GO:0009083)2.86588803
68complement activation, classical pathway (GO:0006958)2.86089410
69regulation of memory T cell differentiation (GO:0043380)2.84482182
70protein K11-linked deubiquitination (GO:0035871)2.83659770
71cellular ketone metabolic process (GO:0042180)2.83442715
72phosphatidylinositol acyl-chain remodeling (GO:0036149)2.81480450
73molting cycle (GO:0042303)2.81178072
74hair cycle (GO:0042633)2.81178072
75negative regulation of epidermal cell differentiation (GO:0045605)2.78533956
76regulation of phospholipase A2 activity (GO:0032429)2.73577640
77negative regulation of amino acid transport (GO:0051956)2.71071055
78cysteine metabolic process (GO:0006534)2.70480338
79primary alcohol metabolic process (GO:0034308)2.69384268
80cellular response to ethanol (GO:0071361)2.68129766
81cellular ketone body metabolic process (GO:0046950)2.64626704
82retinol metabolic process (GO:0042572)2.63422268
83organ formation (GO:0048645)2.62951535
84progesterone metabolic process (GO:0042448)2.60643296
85drug transmembrane transport (GO:0006855)2.60412230
86photoreceptor cell maintenance (GO:0045494)2.59806679
87positive regulation of glomerulus development (GO:0090193)2.58490003
88phosphatidylserine acyl-chain remodeling (GO:0036150)2.57139294
89water-soluble vitamin biosynthetic process (GO:0042364)2.56763771
90magnesium ion transport (GO:0015693)2.53249161
91positive regulation of neurological system process (GO:0031646)2.53138429
92early endosome to late endosome transport (GO:0045022)2.51279977
93cornea development in camera-type eye (GO:0061303)2.50727307
94negative regulation of cell aging (GO:0090344)2.48944538
95DNA damage response, signal transduction resulting in transcription (GO:0042772)2.47641545
96genitalia morphogenesis (GO:0035112)2.46770365
97Sertoli cell development (GO:0060009)2.44943996
98* drug metabolic process (GO:0017144)2.43637536
99hair follicle morphogenesis (GO:0031069)2.40050034
100positive regulation of action potential (GO:0045760)2.39537026

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1VDR_22108803_ChIP-Seq_LS180_Human3.09900371
2ZFP57_27257070_Chip-Seq_ESCs_Mouse2.95987831
3GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.81097372
4GBX2_23144817_ChIP-Seq_PC3_Human2.71329827
5POU3F2_20337985_ChIP-ChIP_501MEL_Human2.63819651
6FLI1_27457419_Chip-Seq_LIVER_Mouse2.50865096
7CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.44852867
8AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.33744833
9IGF1R_20145208_ChIP-Seq_DFB_Human2.31982949
10FUS_26573619_Chip-Seq_HEK293_Human2.30285413
11TAF15_26573619_Chip-Seq_HEK293_Human2.27143077
12TP63_17297297_ChIP-ChIP_HaCaT_Human2.19147006
13SALL1_21062744_ChIP-ChIP_HESCs_Human2.16325734
14PCGF2_27294783_Chip-Seq_ESCs_Mouse2.16237848
15CTBP2_25329375_ChIP-Seq_LNCAP_Human2.08761666
16ZNF274_21170338_ChIP-Seq_K562_Hela2.07752496
17P300_19829295_ChIP-Seq_ESCs_Human2.07524404
18PIAS1_25552417_ChIP-Seq_VCAP_Human1.97108744
19EWS_26573619_Chip-Seq_HEK293_Human1.92108864
20GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.88329327
21SUZ12_27294783_Chip-Seq_NPCs_Mouse1.84270738
22ER_23166858_ChIP-Seq_MCF-7_Human1.76210394
23SMAD4_21799915_ChIP-Seq_A2780_Human1.75524516
24EZH2_27294783_Chip-Seq_NPCs_Mouse1.74996854
25PCGF2_27294783_Chip-Seq_NPCs_Mouse1.71372214
26ZNF217_24962896_ChIP-Seq_MCF-7_Human1.71219476
27NFE2_27457419_Chip-Seq_LIVER_Mouse1.70987287
28CBP_20019798_ChIP-Seq_JUKART_Human1.68673734
29IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.68673734
30CTBP1_25329375_ChIP-Seq_LNCAP_Human1.65900338
31SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.62192542
32BCAT_22108803_ChIP-Seq_LS180_Human1.61536399
33NANOG_18555785_Chip-Seq_ESCs_Mouse1.61013447
34TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.60647253
35AR_25329375_ChIP-Seq_VCAP_Human1.60430856
36CJUN_26792858_Chip-Seq_BT549_Human1.58994514
37SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.58527701
38EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.56891571
39PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.56527091
40STAT3_23295773_ChIP-Seq_U87_Human1.54676280
41SMAD_19615063_ChIP-ChIP_OVARY_Human1.54655251
42NRF2_20460467_ChIP-Seq_MEFs_Mouse1.54438445
43NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.54438445
44CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.54120946
45FOXM1_26456572_ChIP-Seq_MCF-7_Human1.52847894
46MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.49591292
47TP53_18474530_ChIP-ChIP_U2OS_Human1.47745508
48NR3C1_21868756_ChIP-Seq_MCF10A_Human1.47632025
49UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.47072427
50P53_22387025_ChIP-Seq_ESCs_Mouse1.45988775
51TCF4_22108803_ChIP-Seq_LS180_Human1.45921473
52EGR1_23403033_ChIP-Seq_LIVER_Mouse1.43449247
53CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.42576754
54E2F1_18555785_Chip-Seq_ESCs_Mouse1.42363942
55OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.41358120
56STAT3_18555785_Chip-Seq_ESCs_Mouse1.40871582
57CDX2_22108803_ChIP-Seq_LS180_Human1.40278525
58TOP2B_26459242_ChIP-Seq_MCF-7_Human1.39230317
59CMYC_18555785_Chip-Seq_ESCs_Mouse1.38100977
60CRX_20693478_ChIP-Seq_RETINA_Mouse1.37324021
61SMAD3_21741376_ChIP-Seq_EPCs_Human1.37239238
62TCF4_23295773_ChIP-Seq_U87_Human1.36375736
63SUZ12_18555785_Chip-Seq_ESCs_Mouse1.35753998
64ARNT_22903824_ChIP-Seq_MCF-7_Human1.35010777
65AHR_22903824_ChIP-Seq_MCF-7_Human1.32397241
66P300_18555785_Chip-Seq_ESCs_Mouse1.31632947
67SOX2_19829295_ChIP-Seq_ESCs_Human1.30306421
68NANOG_19829295_ChIP-Seq_ESCs_Human1.30306421
69* SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.29176927
70SOX2_18555785_Chip-Seq_ESCs_Mouse1.29137358
71TP63_23658742_ChIP-Seq_EP156T_Human1.28395802
72OCT4_18555785_Chip-Seq_ESCs_Mouse1.28208022
73KLF5_20875108_ChIP-Seq_MESCs_Mouse1.27408225
74OCT4_21477851_ChIP-Seq_ESCs_Mouse1.26153924
75CDX2_19796622_ChIP-Seq_MESCs_Mouse1.26024471
76SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.24821068
77PRDM14_20953172_ChIP-Seq_ESCs_Human1.22841481
78RUNX2_22187159_ChIP-Seq_PCA_Human1.22282115
79NMYC_18555785_Chip-Seq_ESCs_Mouse1.21250265
80EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.21017009
81MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.20086909
82FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.18392449
83EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.17785878
84FOXA1_21572438_ChIP-Seq_LNCaP_Human1.17692879
85SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.16901068
86CTCF_18555785_Chip-Seq_ESCs_Mouse1.12046411
87SMAD1_18555785_Chip-Seq_ESCs_Mouse1.11947590
88RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.07825626
89HTT_18923047_ChIP-ChIP_STHdh_Human1.06540601
90FLI1_21867929_ChIP-Seq_TH2_Mouse1.06195282
91KDM2B_26808549_Chip-Seq_REH_Human1.06100949
92ZFX_18555785_Chip-Seq_ESCs_Mouse1.06002413
93TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.05640073
94* FOXA1_27270436_Chip-Seq_PROSTATE_Human1.05559281
95* FOXA1_25329375_ChIP-Seq_VCAP_Human1.05559281
96BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.05289148
97KLF4_18555785_Chip-Seq_ESCs_Mouse1.05034595
98TAL1_26923725_Chip-Seq_HPCs_Mouse1.04681392
99GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.04284414
100EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.03841924

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000383_abnormal_hair_follicle4.23138193
2MP0002139_abnormal_hepatobiliary_system4.01475873
3MP0002138_abnormal_hepatobiliary_system3.72882934
4MP0010678_abnormal_skin_adnexa3.65969442
5MP0010386_abnormal_urinary_bladder3.42712845
6MP0003195_calcinosis3.38943258
7MP0004043_abnormal_pH_regulation3.24898654
8MP0000427_abnormal_hair_cycle3.14609875
9MP0000579_abnormal_nail_morphology3.06895525
10MP0002796_impaired_skin_barrier2.92127100
11MP0005275_abnormal_skin_tensile2.83303326
12MP0008875_abnormal_xenobiotic_pharmacok2.66151689
13MP0002234_abnormal_pharynx_morphology2.55934056
14MP0003252_abnormal_bile_duct2.48049687
15MP0004885_abnormal_endolymph2.08279585
16MP0010234_abnormal_vibrissa_follicle2.04894008
17MP0002095_abnormal_skin_pigmentation1.97320564
18MP0000569_abnormal_digit_pigmentation1.83007360
19MP0005085_abnormal_gallbladder_physiolo1.72614086
20MP0005551_abnormal_eye_electrophysiolog1.72499799
21MP0001216_abnormal_epidermal_layer1.68219901
22MP0009697_abnormal_copulation1.65447041
23MP0000647_abnormal_sebaceous_gland1.57187166
24MP0000467_abnormal_esophagus_morphology1.56393291
25MP0005365_abnormal_bile_salt1.55071196
26MP0000372_irregular_coat_pigmentation1.50601598
27MP0008872_abnormal_physiological_respon1.46208712
28MP0003880_abnormal_central_pattern1.44745252
29MP0002098_abnormal_vibrissa_morphology1.41986694
30MP0005253_abnormal_eye_physiology1.38512612
31MP0003011_delayed_dark_adaptation1.37349027
32MP0005501_abnormal_skin_physiology1.37232164
33MP0004215_abnormal_myocardial_fiber1.34570424
34MP0005075_abnormal_melanosome_morpholog1.33515594
35MP0006072_abnormal_retinal_apoptosis1.31627755
36MP0004019_abnormal_vitamin_homeostasis1.31542265
37MP0005379_endocrine/exocrine_gland_phen1.29107305
38MP0000762_abnormal_tongue_morphology1.28945219
39MP0003283_abnormal_digestive_organ1.26543295
40MP0000371_diluted_coat_color1.25729798
41MP0010771_integument_phenotype1.23532731
42MP0001501_abnormal_sleep_pattern1.19860982
43MP0000613_abnormal_salivary_gland1.19772779
44MP0006292_abnormal_olfactory_placode1.17826370
45MP0002638_abnormal_pupillary_reflex1.16647846
46MP0000631_abnormal_neuroendocrine_gland1.13176700
47MP0001485_abnormal_pinna_reflex1.10465000
48MP0000377_abnormal_hair_follicle1.09490105
49MP0004782_abnormal_surfactant_physiolog1.08157892
50MP0002876_abnormal_thyroid_physiology1.06879554
51MP0008877_abnormal_DNA_methylation1.04556982
52MP0009046_muscle_twitch1.04521506
53MP0003943_abnormal_hepatobiliary_system1.02354411
54MP0008961_abnormal_basal_metabolism0.97864607
55MP0006276_abnormal_autonomic_nervous0.97066085
56MP0002233_abnormal_nose_morphology0.96373524
57MP0002909_abnormal_adrenal_gland0.95870312
58MP0000566_synostosis0.94814432
59MP0004147_increased_porphyrin_level0.93025542
60MP0001270_distended_abdomen0.92877861
61MP0002102_abnormal_ear_morphology0.92358792
62MP0003937_abnormal_limbs/digits/tail_de0.91460674
63MP0001879_abnormal_lymphatic_vessel0.91402671
64MP0003045_fibrosis0.91130740
65MP0005646_abnormal_pituitary_gland0.90414815
66MP0002928_abnormal_bile_duct0.90268543
67MP0001661_extended_life_span0.88770438
68MP0001764_abnormal_homeostasis0.88172845
69MP0005332_abnormal_amino_acid0.86851136
70MP0005248_abnormal_Harderian_gland0.86783094
71MP0005645_abnormal_hypothalamus_physiol0.86016234
72MP0000678_abnormal_parathyroid_gland0.85405946
73MP0000013_abnormal_adipose_tissue0.84879077
74MP0003755_abnormal_palate_morphology0.84677106
75MP0000367_abnormal_coat/_hair0.84517875
76MP0008775_abnormal_heart_ventricle0.81265889
77MP0004134_abnormal_chest_morphology0.80818392
78MP0003878_abnormal_ear_physiology0.80750272
79MP0005377_hearing/vestibular/ear_phenot0.80750272
80MP0002168_other_aberrant_phenotype0.80521504
81MP0005084_abnormal_gallbladder_morpholo0.78481148
82MP0001191_abnormal_skin_condition0.77226374
83MP0004484_altered_response_of0.77059544
84MP0003186_abnormal_redox_activity0.75273863
85MP0001756_abnormal_urination0.74436206
86MP0003453_abnormal_keratinocyte_physiol0.73991666
87MP0001324_abnormal_eye_pigmentation0.73266050
88MP0008057_abnormal_DNA_replication0.73212515
89MP0002751_abnormal_autonomic_nervous0.73210943
90MP0003868_abnormal_feces_composition0.70580109
91MP0003656_abnormal_erythrocyte_physiolo0.70043164
92MP0002938_white_spotting0.67883153
93MP0002163_abnormal_gland_morphology0.67529892
94MP0000049_abnormal_middle_ear0.67430103
95MP0001666_abnormal_nutrient_absorption0.64026363
96MP0005636_abnormal_mineral_homeostasis0.62249855
97MP0002693_abnormal_pancreas_physiology0.61891513
98MP0005174_abnormal_tail_pigmentation0.61770435
99MP0005395_other_phenotype0.60722619
100MP0009745_abnormal_behavioral_response0.60496394

Predicted human phenotypes

RankGene SetZ-score
1Alopecia of scalp (HP:0002293)4.92103848
2Abnormality of the axillary hair (HP:0100134)4.74785390
3Abnormality of secondary sexual hair (HP:0009888)4.74785390
4Thick nail (HP:0001805)4.62732647
5Palmar hyperkeratosis (HP:0010765)4.00291797
6Abnormality of nail color (HP:0100643)3.98851852
7Palmoplantar hyperkeratosis (HP:0000972)3.96301506
8Hypoplastic labia majora (HP:0000059)3.76913357
9Prostate neoplasm (HP:0100787)3.71717648
10Oral leukoplakia (HP:0002745)3.63079212
11Abnormal hair laboratory examination (HP:0003328)3.61146200
12Fair hair (HP:0002286)3.42436326
13Abnormality of the labia majora (HP:0012881)3.39235368
14Abnormality of the renal collecting system (HP:0004742)3.29619549
15Erythroderma (HP:0001019)3.29381059
16Pancreatic cysts (HP:0001737)3.22972193
17Plantar hyperkeratosis (HP:0007556)3.05227831
18Corneal erosion (HP:0200020)3.03099764
19Duplicated collecting system (HP:0000081)2.98613749
20Abnormality of macular pigmentation (HP:0008002)2.96385759
21Generalized hypopigmentation of hair (HP:0011358)2.95395017
22Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)2.91391901
23Abnormality of the renal cortex (HP:0011035)2.87612240
24Follicular hyperkeratosis (HP:0007502)2.85956077
25Absent eyelashes (HP:0000561)2.84745804
26Erythema (HP:0010783)2.83035574
27Hyperventilation (HP:0002883)2.80625337
28Oligodontia (HP:0000677)2.79860456
29Congenital stationary night blindness (HP:0007642)2.79853351
30Pili torti (HP:0003777)2.79516858
31Hypotrichosis (HP:0001006)2.79296379
32Aplasia/hypoplasia of the uterus (HP:0008684)2.73178611
33Furrowed tongue (HP:0000221)2.70288863
34Slow-growing hair (HP:0002217)2.67492911
35Abnormality of hair growth rate (HP:0011363)2.67492911
36Widely spaced teeth (HP:0000687)2.66280099
37Septate vagina (HP:0001153)2.65167135
38Labial hypoplasia (HP:0000066)2.61857921
39Split foot (HP:0001839)2.61209408
40Woolly hair (HP:0002224)2.60178629
41Sparse eyelashes (HP:0000653)2.55082687
42Hypoplasia of the uterus (HP:0000013)2.52208192
43Anhidrosis (HP:0000970)2.48067798
44Depressed nasal tip (HP:0000437)2.44383418
45Blepharitis (HP:0000498)2.42876148
46Pancreatic fibrosis (HP:0100732)2.40276644
47True hermaphroditism (HP:0010459)2.36179328
48Conical tooth (HP:0000698)2.36153156
49Absent hair (HP:0002298)2.35917250
50Brittle hair (HP:0002299)2.35426946
51Abnormal sex determination (HP:0012244)2.34445537
52Sex reversal (HP:0012245)2.34445537
53Medial flaring of the eyebrow (HP:0010747)2.33246230
54Abnormality of the renal medulla (HP:0100957)2.29499377
55Hypoplastic female external genitalia (HP:0012815)2.28340254
56Metaphyseal dysplasia (HP:0100255)2.23837205
57Hypoplastic nipples (HP:0002557)2.23203970
58Abnormality of midbrain morphology (HP:0002418)2.21425697
59Molar tooth sign on MRI (HP:0002419)2.21425697
60Abnormality of the prostate (HP:0008775)2.13866985
61Congenital, generalized hypertrichosis (HP:0004540)2.13634535
62Renal cortical cysts (HP:0000803)2.11706619
63Chorioretinal atrophy (HP:0000533)2.10814566
64Nephronophthisis (HP:0000090)2.10756241
65Thyroiditis (HP:0100646)2.03234529
66Conjugated hyperbilirubinemia (HP:0002908)2.02524497
67Decreased central vision (HP:0007663)2.01746049
68Renal dysplasia (HP:0000110)2.00881944
69Sparse scalp hair (HP:0002209)1.96494326
70Ketosis (HP:0001946)1.94487303
71Lip pit (HP:0100267)1.92201167
72Attenuation of retinal blood vessels (HP:0007843)1.91411267
73Selective tooth agenesis (HP:0001592)1.91094855
74Abnormality of the nasal septum (HP:0000419)1.88664747
75Conjunctival hamartoma (HP:0100780)1.88424611
76Decreased electroretinogram (ERG) amplitude (HP:0000654)1.84837956
77Tubular atrophy (HP:0000092)1.84252229
78Gaze-evoked nystagmus (HP:0000640)1.84009949
79Nail dystrophy (HP:0008404)1.83478632
80Fine hair (HP:0002213)1.80935064
81Congenital primary aphakia (HP:0007707)1.80805411
82Breast hypoplasia (HP:0003187)1.79868778
83Abnormality of the labia (HP:0000058)1.79525320
84Right ventricular cardiomyopathy (HP:0011663)1.79221018
85Blue irides (HP:0000635)1.78199628
86Aplasia/Hypoplasia of the tongue (HP:0010295)1.72969156
87Cystic liver disease (HP:0006706)1.72796921
88Neoplasm of the lung (HP:0100526)1.71811380
89Onycholysis (HP:0001806)1.71746337
90Hypothermia (HP:0002045)1.71667404
91Nephrogenic diabetes insipidus (HP:0009806)1.71263935
92Aplasia/Hypoplasia of the fovea (HP:0008060)1.71174875
93Hypoplasia of the fovea (HP:0007750)1.71174875
94Increased corneal curvature (HP:0100692)1.71052170
95Keratoconus (HP:0000563)1.71052170
96Gait imbalance (HP:0002141)1.70358941
97Hypohidrosis (HP:0000966)1.66410235
98Proximal tubulopathy (HP:0000114)1.65896273
99Congenital ichthyosiform erythroderma (HP:0007431)1.64948925
100Generalized hypopigmentation (HP:0007513)1.64149875

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK4.95168813
2BCKDK4.54910409
3TGFBR13.35635179
4EIF2AK32.95793942
5MAP4K22.70615282
6MST42.51933328
7GRK12.37481448
8PINK12.20289896
9ZAK2.18013268
10ERBB32.13268626
11ADRBK21.96735946
12NUAK11.93385424
13BMPR1B1.92974922
14CASK1.92399236
15ACVR1B1.85669657
16STK38L1.77177570
17STK391.63353790
18IRAK11.60641376
19MAP2K71.58790751
20FER1.53819509
21MAP3K41.49693531
22MAP3K121.48625213
23WNK31.47390542
24BRSK21.46084816
25STK241.41099226
26EIF2AK11.38829746
27MAPK131.37850255
28MAPKAPK31.37000069
29BCR1.36821887
30AKT31.36483012
31TRIM281.35679399
32INSRR1.34062197
33PIK3CA1.28091836
34* PRKCE1.25485599
35SIK31.25145928
36EPHA31.22080719
37NLK1.22040500
38OXSR11.18876865
39MST1R1.17717296
40CSNK1A1L1.15405686
41CSNK1G11.12838146
42CSNK1G31.05425189
43LMTK21.01806733
44IKBKB1.00537970
45CSNK1G20.97862455
46TXK0.94649550
47EPHA40.88557809
48MAP3K20.85993246
49WNK40.85329319
50RPS6KA40.84246361
51LATS10.80301196
52TRPM70.79373025
53NEK60.78696580
54STK30.71147344
55TAOK30.66189279
56MET0.62522287
57TLK10.61813235
58EPHA20.61489906
59BMPR20.61405035
60PRKG20.60448909
61DYRK30.59171085
62CAMKK20.57412406
63PAK30.54753405
64NTRK30.52060261
65CSNK1A10.51863108
66ABL10.51767256
67MAPKAPK50.48671325
68PLK20.48062379
69SRPK10.47466690
70ADRBK10.46799772
71MKNK20.46373244
72TNIK0.45756627
73PRKCQ0.45402705
74KIT0.44029938
75PIK3CG0.40386682
76FGFR30.40314891
77PHKG10.39985636
78PHKG20.39985636
79ROCK10.39094592
80SGK2230.36289879
81SGK4940.36289879
82IKBKE0.35929166
83FLT30.35883263
84IRAK20.34523809
85EIF2AK20.33961573
86SGK20.33587659
87CSNK1D0.33553096
88PBK0.33495386
89PDK20.33221581
90MKNK10.32297589
91PRKD20.31266400
92RPS6KA50.30139965
93ERBB40.30088151
94CAMK2A0.29326533
95MAPK70.28834655
96FGFR20.28716520
97CDK190.28470233
98MATK0.27872369
99ATM0.27602309
100CAMK2D0.26189047

Predicted pathways (KEGG)

RankGene SetZ-score
1* Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.51826058
2* Pentose and glucuronate interconversions_Homo sapiens_hsa000403.42116495
3* Steroid hormone biosynthesis_Homo sapiens_hsa001402.98432893
4* Retinol metabolism_Homo sapiens_hsa008302.61735713
5Phototransduction_Homo sapiens_hsa047442.55733100
6* Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.51980049
7* Chemical carcinogenesis_Homo sapiens_hsa052042.48441763
8Maturity onset diabetes of the young_Homo sapiens_hsa049502.42342179
9Propanoate metabolism_Homo sapiens_hsa006402.40039826
10Linoleic acid metabolism_Homo sapiens_hsa005912.39507605
11* Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.19478027
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.16723388
13alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.06355493
14Nitrogen metabolism_Homo sapiens_hsa009102.05042585
15Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.04390154
16Butanoate metabolism_Homo sapiens_hsa006502.01978530
17Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.96840981
18Primary bile acid biosynthesis_Homo sapiens_hsa001201.96518445
19Arachidonic acid metabolism_Homo sapiens_hsa005901.95947620
20Circadian rhythm_Homo sapiens_hsa047101.92486292
21Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.86403310
22ABC transporters_Homo sapiens_hsa020101.75507466
23Tryptophan metabolism_Homo sapiens_hsa003801.73310849
24Ether lipid metabolism_Homo sapiens_hsa005651.72573183
25Sulfur metabolism_Homo sapiens_hsa009201.72168313
26* Starch and sucrose metabolism_Homo sapiens_hsa005001.58033707
27Protein export_Homo sapiens_hsa030601.54684412
28Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.47870548
29* Drug metabolism - other enzymes_Homo sapiens_hsa009831.47430187
30Nicotine addiction_Homo sapiens_hsa050331.46575047
31Caffeine metabolism_Homo sapiens_hsa002321.46346343
32Histidine metabolism_Homo sapiens_hsa003401.42293602
33Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.32901520
34* Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.32507028
35beta-Alanine metabolism_Homo sapiens_hsa004101.25853211
36Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.22698064
37Glutathione metabolism_Homo sapiens_hsa004801.21067995
38Peroxisome_Homo sapiens_hsa041461.20799148
39Vitamin B6 metabolism_Homo sapiens_hsa007501.09344981
40Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.09134349
41Glycerolipid metabolism_Homo sapiens_hsa005611.07910271
42Sphingolipid metabolism_Homo sapiens_hsa006000.99070212
43Fanconi anemia pathway_Homo sapiens_hsa034600.98980901
44Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.96793638
45Salivary secretion_Homo sapiens_hsa049700.93525970
46Serotonergic synapse_Homo sapiens_hsa047260.91662185
47Intestinal immune network for IgA production_Homo sapiens_hsa046720.90363911
48Olfactory transduction_Homo sapiens_hsa047400.85240894
49Basal transcription factors_Homo sapiens_hsa030220.84187432
50Homologous recombination_Homo sapiens_hsa034400.81153540
51Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.80921829
52Galactose metabolism_Homo sapiens_hsa000520.76275400
53Ovarian steroidogenesis_Homo sapiens_hsa049130.75484337
54Regulation of autophagy_Homo sapiens_hsa041400.75346902
55RNA degradation_Homo sapiens_hsa030180.73880409
56Fatty acid degradation_Homo sapiens_hsa000710.72477885
57Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.70351312
58Selenocompound metabolism_Homo sapiens_hsa004500.68191556
59Asthma_Homo sapiens_hsa053100.67365905
60Renin secretion_Homo sapiens_hsa049240.65919538
61Insulin secretion_Homo sapiens_hsa049110.64503048
62Sulfur relay system_Homo sapiens_hsa041220.62577539
63Hedgehog signaling pathway_Homo sapiens_hsa043400.61021516
64Taste transduction_Homo sapiens_hsa047420.60916674
65SNARE interactions in vesicular transport_Homo sapiens_hsa041300.60384094
66Cysteine and methionine metabolism_Homo sapiens_hsa002700.59052133
67* Metabolic pathways_Homo sapiens_hsa011000.57834562
68Tyrosine metabolism_Homo sapiens_hsa003500.56980692
69Complement and coagulation cascades_Homo sapiens_hsa046100.55210691
70Mineral absorption_Homo sapiens_hsa049780.54965720
71Morphine addiction_Homo sapiens_hsa050320.53587074
72Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.52925568
73Arginine and proline metabolism_Homo sapiens_hsa003300.52515498
74Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.52243943
75Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.51868812
76Long-term depression_Homo sapiens_hsa047300.51690654
77Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.51340587
78Bile secretion_Homo sapiens_hsa049760.50237799
79GABAergic synapse_Homo sapiens_hsa047270.48040098
80Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.45115780
81Dorso-ventral axis formation_Homo sapiens_hsa043200.43620153
82Folate biosynthesis_Homo sapiens_hsa007900.43288451
83Primary immunodeficiency_Homo sapiens_hsa053400.40927321
84Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.40368148
85N-Glycan biosynthesis_Homo sapiens_hsa005100.40082172
86Fatty acid elongation_Homo sapiens_hsa000620.35873197
87Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.34120494
88Proteasome_Homo sapiens_hsa030500.33544404
89Pancreatic secretion_Homo sapiens_hsa049720.33373653
90Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.32028733
91Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.29730127
92Circadian entrainment_Homo sapiens_hsa047130.26813215
93Lysine degradation_Homo sapiens_hsa003100.25829836
94TGF-beta signaling pathway_Homo sapiens_hsa043500.24385545
95Thyroid hormone synthesis_Homo sapiens_hsa049180.22904785
96Phenylalanine metabolism_Homo sapiens_hsa003600.22753608
97Pyruvate metabolism_Homo sapiens_hsa006200.21860308
98Vascular smooth muscle contraction_Homo sapiens_hsa042700.21400510
99Steroid biosynthesis_Homo sapiens_hsa001000.20962163
100Fructose and mannose metabolism_Homo sapiens_hsa000510.20123725

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