CYP51A1

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 member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein participates in the synthesis of cholesterol by catalyzing the removal of the 14alpha-methyl group from lanosterol. Homologous genes are found in all three eukaryotic phyla, fungi, plants, and animals, suggesting that this is one of the oldest cytochrome P450 genes. Two transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* cholesterol biosynthetic process (GO:0006695)6.18659399
2* sterol biosynthetic process (GO:0016126)5.55171591
3isoprenoid biosynthetic process (GO:0008299)4.83477386
4cellular response to follicle-stimulating hormone stimulus (GO:0071372)4.47951980
5response to follicle-stimulating hormone (GO:0032354)3.74436782
6estrogen biosynthetic process (GO:0006703)3.24317444
7response to lipoprotein particle (GO:0055094)3.22884959
8water-soluble vitamin biosynthetic process (GO:0042364)3.15963351
9terpenoid biosynthetic process (GO:0016114)2.94353774
10pyrimidine nucleobase catabolic process (GO:0006208)2.92344231
11* steroid biosynthetic process (GO:0006694)2.89804945
12L-serine metabolic process (GO:0006563)2.82654655
13nucleobase catabolic process (GO:0046113)2.69161109
14intestinal cholesterol absorption (GO:0030299)2.68184337
15long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)2.65956187
16* alcohol biosynthetic process (GO:0046165)2.65885384
17alpha-linolenic acid metabolic process (GO:0036109)2.58043808
18response to phenylpropanoid (GO:0080184)2.55444724
19fatty acid elongation (GO:0030497)2.53298615
20glyoxylate metabolic process (GO:0046487)2.44872696
21COPII vesicle coating (GO:0048208)2.43214631
22androgen biosynthetic process (GO:0006702)2.42103133
23fatty-acyl-CoA biosynthetic process (GO:0046949)2.40835504
24cellular response to gonadotropin stimulus (GO:0071371)2.33942174
25cysteine metabolic process (GO:0006534)2.30717831
26dorsal/ventral axis specification (GO:0009950)2.29618684
27serine family amino acid biosynthetic process (GO:0009070)2.29083974
28presynaptic membrane assembly (GO:0097105)2.26599956
29cellular glucuronidation (GO:0052695)2.25535096
30* cholesterol metabolic process (GO:0008203)2.25220356
31regulation of glucokinase activity (GO:0033131)2.24123121
32regulation of hexokinase activity (GO:1903299)2.24123121
33uronic acid metabolic process (GO:0006063)2.24038462
34glucuronate metabolic process (GO:0019585)2.24038462
35biotin metabolic process (GO:0006768)2.23953770
36lactate metabolic process (GO:0006089)2.22103961
37* sterol metabolic process (GO:0016125)2.21118722
38regulation of centriole replication (GO:0046599)2.20549200
39positive regulation of hormone biosynthetic process (GO:0046886)2.20414747
40branched-chain amino acid catabolic process (GO:0009083)2.19430653
41coenzyme A metabolic process (GO:0015936)2.19213068
42cullin deneddylation (GO:0010388)2.19068490
43C4-dicarboxylate transport (GO:0015740)2.16499948
44DNA double-strand break processing (GO:0000729)2.16484804
45nuclear pore organization (GO:0006999)2.16359261
46tRNA aminoacylation for protein translation (GO:0006418)2.15340940
47heme transport (GO:0015886)2.14345293
48tRNA aminoacylation (GO:0043039)2.12164548
49amino acid activation (GO:0043038)2.12164548
50serine family amino acid metabolic process (GO:0009069)2.11682479
51cellular response to cholesterol (GO:0071397)2.11271405
52chromatin remodeling at centromere (GO:0031055)2.10040592
53nuclear pore complex assembly (GO:0051292)2.09646878
54lipid particle organization (GO:0034389)2.09317731
55regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.08605417
56non-recombinational repair (GO:0000726)2.08369174
57double-strand break repair via nonhomologous end joining (GO:0006303)2.08369174
58thioester biosynthetic process (GO:0035384)2.07761663
59acyl-CoA biosynthetic process (GO:0071616)2.07761663
60very-low-density lipoprotein particle assembly (GO:0034379)2.07648167
61serine family amino acid catabolic process (GO:0009071)2.06618514
62regulation of sister chromatid cohesion (GO:0007063)2.05289062
63protein prenylation (GO:0018342)2.04456942
64prenylation (GO:0097354)2.04456942
65CENP-A containing nucleosome assembly (GO:0034080)2.03364773
66estrogen metabolic process (GO:0008210)2.03120830
67fatty-acyl-CoA metabolic process (GO:0035337)2.02800909
68doxorubicin metabolic process (GO:0044598)2.02680273
69daunorubicin metabolic process (GO:0044597)2.02680273
70polyketide metabolic process (GO:0030638)2.02680273
71* organic hydroxy compound biosynthetic process (GO:1901617)2.01712789
72presynaptic membrane organization (GO:0097090)2.01165429
73isoprenoid metabolic process (GO:0006720)2.00417366
74L-serine transport (GO:0015825)2.00108309
75intraciliary transport (GO:0042073)2.00103708
76long-chain fatty-acyl-CoA metabolic process (GO:0035336)1.99643675
77ubiquinone metabolic process (GO:0006743)1.99596232
78zinc ion transport (GO:0006829)1.99559894
79glutamine metabolic process (GO:0006541)1.99397442
80DNA damage response, detection of DNA damage (GO:0042769)1.98775587
81ribosome assembly (GO:0042255)1.98062393
82S-adenosylmethionine metabolic process (GO:0046500)1.96940151
83regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)1.96677975
84UDP-N-acetylglucosamine metabolic process (GO:0006047)1.96484297
85regulation of fibrinolysis (GO:0051917)1.94903681
86regulation of sulfur metabolic process (GO:0042762)1.94781270
87amino acid salvage (GO:0043102)1.94522418
88L-methionine salvage (GO:0071267)1.94522418
89L-methionine biosynthetic process (GO:0071265)1.94522418
90regulation of ER to Golgi vesicle-mediated transport (GO:0060628)1.94073582
91establishment of integrated proviral latency (GO:0075713)1.94068201
92midgut development (GO:0007494)1.93728854
93bile acid biosynthetic process (GO:0006699)1.91391122
94Leydig cell differentiation (GO:0033327)1.91300913
95histone exchange (GO:0043486)1.91214594
96erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)1.90752609
97L-phenylalanine catabolic process (GO:0006559)1.90752609
98dolichol-linked oligosaccharide biosynthetic process (GO:0006488)1.90352651
99vitamin biosynthetic process (GO:0009110)1.90008126
100positive regulation of glycolytic process (GO:0045821)1.88971663

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1SALL1_21062744_ChIP-ChIP_HESCs_Human3.14153899
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.71353789
3FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.60570303
4RBPJ_22232070_ChIP-Seq_NCS_Mouse2.57181724
5POU3F2_20337985_ChIP-ChIP_501MEL_Human2.29769339
6GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.21778006
7GBX2_23144817_ChIP-Seq_PC3_Human2.21206837
8* ZNF274_21170338_ChIP-Seq_K562_Hela2.06638286
9IGF1R_20145208_ChIP-Seq_DFB_Human2.05133619
10TAF15_26573619_Chip-Seq_HEK293_Human2.03491669
11ZFP57_27257070_Chip-Seq_ESCs_Mouse2.01932439
12ELK1_19687146_ChIP-ChIP_HELA_Human2.01662218
13KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.99225644
14NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.98455562
15FUS_26573619_Chip-Seq_HEK293_Human1.97573851
16AR_21909140_ChIP-Seq_LNCAP_Human1.92043399
17E2F7_22180533_ChIP-Seq_HELA_Human1.89160211
18GABP_17652178_ChIP-ChIP_JURKAT_Human1.83248720
19EWS_26573619_Chip-Seq_HEK293_Human1.82068936
20CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.80384891
21ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.74437181
22HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.72223114
23E2F4_17652178_ChIP-ChIP_JURKAT_Human1.70285476
24PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.68721884
25P300_19829295_ChIP-Seq_ESCs_Human1.63653193
26SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.63009654
27* PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.62533377
28HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.58232109
29PADI4_21655091_ChIP-ChIP_MCF-7_Human1.56909824
30CTBP2_25329375_ChIP-Seq_LNCAP_Human1.56649156
31CREB1_15753290_ChIP-ChIP_HEK293T_Human1.56409576
32AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.56024095
33FLI1_27457419_Chip-Seq_LIVER_Mouse1.53652210
34RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.52614178
35PIAS1_25552417_ChIP-Seq_VCAP_Human1.47465175
36VDR_22108803_ChIP-Seq_LS180_Human1.43654094
37CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.37807007
38EST1_17652178_ChIP-ChIP_JURKAT_Human1.35932320
39POU5F1_16153702_ChIP-ChIP_HESCs_Human1.35799889
40MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.35774391
41OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.33467001
42PCGF2_27294783_Chip-Seq_ESCs_Mouse1.28570261
43E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.27042127
44CTBP1_25329375_ChIP-Seq_LNCAP_Human1.26218158
45NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.25270033
46SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.25164307
47SMAD4_21799915_ChIP-Seq_A2780_Human1.24623683
48MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.24442054
49GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.23275095
50SMAD3_21741376_ChIP-Seq_EPCs_Human1.22240670
51NELFA_20434984_ChIP-Seq_ESCs_Mouse1.21074247
52SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.20038016
53MYC_18940864_ChIP-ChIP_HL60_Human1.16294474
54YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.15614727
55NANOG_16153702_ChIP-ChIP_HESCs_Human1.15580575
56SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.14926323
57MYC_18555785_ChIP-Seq_MESCs_Mouse1.14360191
58FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.12772028
59MYCN_18555785_ChIP-Seq_MESCs_Mouse1.11431539
60NANOG_18555785_Chip-Seq_ESCs_Mouse1.11413490
61TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.09533355
62* ER_23166858_ChIP-Seq_MCF-7_Human1.09370805
63HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.09256577
64NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.08089474
65EZH2_27294783_Chip-Seq_NPCs_Mouse1.07937793
66TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.07584843
67EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.05619094
68FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.05526450
69WT1_19549856_ChIP-ChIP_CCG9911_Human1.05128379
70SUZ12_27294783_Chip-Seq_NPCs_Mouse1.04703386
71TOP2B_26459242_ChIP-Seq_MCF-7_Human1.03991268
72* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.03597869
73SOX2_16153702_ChIP-ChIP_HESCs_Human1.03452183
74KLF5_20875108_ChIP-Seq_MESCs_Mouse1.03275548
75AR_25329375_ChIP-Seq_VCAP_Human1.01943179
76KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.00810745
77PCGF2_27294783_Chip-Seq_NPCs_Mouse1.00224707
78PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.99204640
79STAT3_23295773_ChIP-Seq_U87_Human0.98520535
80SOX9_26525672_Chip-Seq_HEART_Mouse0.97850811
81IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.97397173
82CBP_20019798_ChIP-Seq_JUKART_Human0.97397173
83ETS1_20019798_ChIP-Seq_JURKAT_Human0.96308660
84E2F1_18555785_ChIP-Seq_MESCs_Mouse0.94187666
85FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.94149909
86SOX17_20123909_ChIP-Seq_XEN_Mouse0.93628635
87P53_22387025_ChIP-Seq_ESCs_Mouse0.93534847
88JARID1A_20064375_ChIP-Seq_MESCs_Mouse0.93149692
89E2F1_21310950_ChIP-Seq_MCF-7_Human0.92851289
90DCP1A_22483619_ChIP-Seq_HELA_Human0.92347965
91NFE2_27457419_Chip-Seq_LIVER_Mouse0.91310549
92P300_18555785_Chip-Seq_ESCs_Mouse0.90779396
93MYC_19030024_ChIP-ChIP_MESCs_Mouse0.90720891
94SUZ12_18555785_Chip-Seq_ESCs_Mouse0.90027874
95CDX2_22108803_ChIP-Seq_LS180_Human0.89265251
96CMYC_18555785_Chip-Seq_ESCs_Mouse0.89177952
97IRF1_19129219_ChIP-ChIP_H3396_Human0.89096511
98TCF4_22108803_ChIP-Seq_LS180_Human0.89019362
99EGR1_23403033_ChIP-Seq_LIVER_Mouse0.88795675
100FOXM1_26456572_ChIP-Seq_MCF-7_Human0.88298089

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003122_maternal_imprinting3.04091748
2MP0002139_abnormal_hepatobiliary_system2.79981652
3MP0010234_abnormal_vibrissa_follicle2.57780214
4MP0003890_abnormal_embryonic-extraembry2.44952639
5MP0003941_abnormal_skin_development2.41787553
6MP0003195_calcinosis2.36685937
7MP0001529_abnormal_vocalization2.19713138
8MP0003121_genomic_imprinting1.99495474
9MP0002938_white_spotting1.90559696
10MP0003011_delayed_dark_adaptation1.90125746
11MP0005187_abnormal_penis_morphology1.88993781
12MP0009697_abnormal_copulation1.71779353
13MP0005085_abnormal_gallbladder_physiolo1.69955635
14MP0000647_abnormal_sebaceous_gland1.67051196
15MP0002909_abnormal_adrenal_gland1.66920395
16MP0005365_abnormal_bile_salt1.63066585
17MP0001984_abnormal_olfaction1.61849267
18MP0003937_abnormal_limbs/digits/tail_de1.54282445
19MP0006072_abnormal_retinal_apoptosis1.52922033
20MP0003868_abnormal_feces_composition1.51470151
21MP0004270_analgesia1.46091486
22MP0000778_abnormal_nervous_system1.45794222
23MP0003123_paternal_imprinting1.44493700
24MP0008877_abnormal_DNA_methylation1.38776926
25MP0009780_abnormal_chondrocyte_physiolo1.34786800
26MP0003718_maternal_effect1.34440233
27MP0005248_abnormal_Harderian_gland1.33762910
28MP0010094_abnormal_chromosome_stability1.29475530
29MP0005253_abnormal_eye_physiology1.27379244
30MP0008932_abnormal_embryonic_tissue1.27145388
31MP0008875_abnormal_xenobiotic_pharmacok1.25362199
32MP0008058_abnormal_DNA_repair1.24409873
33MP0006054_spinal_hemorrhage1.23263657
34MP0004957_abnormal_blastocyst_morpholog1.22396551
35MP0003119_abnormal_digestive_system1.21085245
36MP0000537_abnormal_urethra_morphology1.20682135
37MP0002090_abnormal_vision1.20242174
38MP0010678_abnormal_skin_adnexa1.18319099
39MP0004272_abnormal_basement_membrane1.16766370
40MP0000566_synostosis1.16389739
41MP0002233_abnormal_nose_morphology1.16069429
42MP0003787_abnormal_imprinting1.13059197
43MP0001293_anophthalmia1.12443735
44MP0010329_abnormal_lipoprotein_level1.12012092
45MP0000516_abnormal_urinary_system1.11315561
46MP0005367_renal/urinary_system_phenotyp1.11315561
47MP0010352_gastrointestinal_tract_polyps1.11234530
48MP0003693_abnormal_embryo_hatching1.10951106
49MP0000579_abnormal_nail_morphology1.08076440
50MP0000639_abnormal_adrenal_gland1.07418533
51MP0000372_irregular_coat_pigmentation1.03846077
52MP0001666_abnormal_nutrient_absorption1.03508476
53MP0002234_abnormal_pharynx_morphology1.00919118
54MP0009672_abnormal_birth_weight0.99125532
55MP0002697_abnormal_eye_size0.97155882
56MP0005332_abnormal_amino_acid0.96582984
57MP0002084_abnormal_developmental_patter0.96556089
58MP0008057_abnormal_DNA_replication0.95941843
59MP0004133_heterotaxia0.95859364
60MP0001299_abnormal_eye_distance/0.94398352
61MP0003755_abnormal_palate_morphology0.94343487
62MP0003880_abnormal_central_pattern0.93175878
63MP0003315_abnormal_perineum_morphology0.92211512
64MP0001177_atelectasis0.91980564
65MP0006276_abnormal_autonomic_nervous0.91833913
66MP0005220_abnormal_exocrine_pancreas0.91617837
67MP0003567_abnormal_fetal_cardiomyocyte0.90839687
68MP0005551_abnormal_eye_electrophysiolog0.90653787
69MP0005391_vision/eye_phenotype0.89757850
70MP0002102_abnormal_ear_morphology0.87504750
71MP0000427_abnormal_hair_cycle0.87135559
72MP0001286_abnormal_eye_development0.86830065
73MP0003111_abnormal_nucleus_morphology0.86555926
74MP0002638_abnormal_pupillary_reflex0.84953690
75MP0009703_decreased_birth_body0.84388157
76MP0002751_abnormal_autonomic_nervous0.84069237
77MP0002111_abnormal_tail_morphology0.83578406
78MP0009046_muscle_twitch0.83476700
79MP0000631_abnormal_neuroendocrine_gland0.83189990
80MP0005408_hypopigmentation0.83070140
81MP0005379_endocrine/exocrine_gland_phen0.82127294
82MP0008007_abnormal_cellular_replicative0.80983661
83MP0005394_taste/olfaction_phenotype0.78662056
84MP0005499_abnormal_olfactory_system0.78662056
85MP0006292_abnormal_olfactory_placode0.78436855
86MP0002282_abnormal_trachea_morphology0.77712716
87MP0001661_extended_life_span0.77478607
88MP0003786_premature_aging0.77091467
89MP0002557_abnormal_social/conspecific_i0.76706495
90MP0003385_abnormal_body_wall0.76388604
91MP0003283_abnormal_digestive_organ0.75647264
92MP0002184_abnormal_innervation0.75131422
93MP0005084_abnormal_gallbladder_morpholo0.74790202
94MP0002822_catalepsy0.74532487
95MP0003942_abnormal_urinary_system0.74143495
96MP0005645_abnormal_hypothalamus_physiol0.73840650
97MP0006035_abnormal_mitochondrial_morpho0.73486641
98MP0004197_abnormal_fetal_growth/weight/0.72207457
99MP0003861_abnormal_nervous_system0.72151664
100MP0003252_abnormal_bile_duct0.72056120

Predicted human phenotypes

RankGene SetZ-score
1Increased serum pyruvate (HP:0003542)3.56424355
2Abnormality of glycolysis (HP:0004366)3.51166035
3Hypoglycemic seizures (HP:0002173)3.11178182
4Hypoglycemic coma (HP:0001325)3.09598407
5Hyperglycinemia (HP:0002154)3.06372223
6Abnormality of the labia minora (HP:0012880)2.76954048
7Intrahepatic cholestasis (HP:0001406)2.71167190
8Hyperinsulinemic hypoglycemia (HP:0000825)2.68831135
9Epidermoid cyst (HP:0200040)2.62793530
10Hypobetalipoproteinemia (HP:0003563)2.60021178
11Bifid tongue (HP:0010297)2.32525622
12Hepatoblastoma (HP:0002884)2.30003050
13Cortical dysplasia (HP:0002539)2.27721714
14Adrenal hypoplasia (HP:0000835)2.26829286
15Overlapping toe (HP:0001845)2.25380974
16Scrotal hypoplasia (HP:0000046)2.22706264
17Abnormal lung lobation (HP:0002101)2.22675325
18Methylmalonic acidemia (HP:0002912)2.22610933
19Microglossia (HP:0000171)2.22452920
20Hypoplastic pelvis (HP:0008839)2.19908083
21Myelomeningocele (HP:0002475)2.17467669
22Abnormality of serine family amino acid metabolism (HP:0010894)2.14961539
23Abnormality of glycine metabolism (HP:0010895)2.14961539
24Papillary thyroid carcinoma (HP:0002895)2.14866856
25Colon cancer (HP:0003003)2.13164134
26Symptomatic seizures (HP:0011145)2.12169274
27Prolonged partial thromboplastin time (HP:0003645)2.10843978
28Neoplasm of the adrenal gland (HP:0100631)2.09177859
29Labial hypoplasia (HP:0000066)2.05901849
30Abnormality of serum amino acid levels (HP:0003112)2.05471914
31Intestinal atresia (HP:0011100)2.03376571
32Poor suck (HP:0002033)2.01076920
33Hypoplastic female external genitalia (HP:0012815)1.95862685
34Abnormality of the metopic suture (HP:0005556)1.94157965
35Thyroid carcinoma (HP:0002890)1.93326064
36Pancreatic islet-cell hyperplasia (HP:0004510)1.91617095
37Abnormality of aromatic amino acid family metabolism (HP:0004338)1.87181446
38Renal hypoplasia (HP:0000089)1.85931122
39Abnormality of methionine metabolism (HP:0010901)1.85375841
40Abnormal sex determination (HP:0012244)1.78436862
41Sex reversal (HP:0012245)1.78436862
42Abnormality of endocrine pancreas physiology (HP:0012093)1.76854417
43Abnormality of the pancreatic islet cells (HP:0006476)1.76854417
44Prominent metopic ridge (HP:0005487)1.76568472
45Hyperglycinuria (HP:0003108)1.75729665
46Facial hemangioma (HP:0000329)1.71799602
47Septate vagina (HP:0001153)1.69437096
48Bifid scrotum (HP:0000048)1.69347896
49Increased nuchal translucency (HP:0010880)1.69180735
50Genital tract atresia (HP:0001827)1.67752812
51Hypsarrhythmia (HP:0002521)1.67602596
52Hyperglycemia (HP:0003074)1.67597838
53Pheochromocytoma (HP:0002666)1.67296075
54Degeneration of anterior horn cells (HP:0002398)1.66666603
55Abnormality of the anterior horn cell (HP:0006802)1.66666603
56Abnormality of the labia (HP:0000058)1.66152448
57Aplasia/Hypoplasia of the tongue (HP:0010295)1.65803797
58Vaginal atresia (HP:0000148)1.65189151
59EEG with generalized epileptiform discharges (HP:0011198)1.64533120
60Broad alveolar ridges (HP:0000187)1.64429676
61Bicornuate uterus (HP:0000813)1.63606602
62Hypothermia (HP:0002045)1.62433750
63Short tibia (HP:0005736)1.61868398
64Neoplasm of the adrenal cortex (HP:0100641)1.61704203
65True hermaphroditism (HP:0010459)1.60890192
66Breast carcinoma (HP:0003002)1.59918881
67Postnatal microcephaly (HP:0005484)1.57677713
68Epiphyseal stippling (HP:0010655)1.57388729
69Drooling (HP:0002307)1.57130114
70Abnormality of aspartate family amino acid metabolism (HP:0010899)1.56893746
71Glioma (HP:0009733)1.56525834
72Epileptiform EEG discharges (HP:0011182)1.56009552
73Absent eyebrow (HP:0002223)1.55907396
74Abnormality of the astrocytes (HP:0100707)1.55377169
75Astrocytoma (HP:0009592)1.55377169
76Methylmalonic aciduria (HP:0012120)1.55312229
77Muscular hypotonia of the trunk (HP:0008936)1.53424203
78Gait imbalance (HP:0002141)1.52769627
79Medial flaring of the eyebrow (HP:0010747)1.52551961
80Pancreatic fibrosis (HP:0100732)1.51864651
81Abnormality of vitamin metabolism (HP:0100508)1.51766197
82Postaxial hand polydactyly (HP:0001162)1.50774583
83Medulloblastoma (HP:0002885)1.49660119
84Sclerocornea (HP:0000647)1.49620804
85Ependymoma (HP:0002888)1.49397400
86Congenital primary aphakia (HP:0007707)1.49358928
87Aplasia/Hypoplasia of the tibia (HP:0005772)1.48865582
88Volvulus (HP:0002580)1.48236645
89Neuroendocrine neoplasm (HP:0100634)1.47982861
90Sensorimotor neuropathy (HP:0007141)1.47152856
91Ketoacidosis (HP:0001993)1.46405619
92Postaxial foot polydactyly (HP:0001830)1.46154587
93Abnormal biliary tract morphology (HP:0012440)1.46049303
94Conjugated hyperbilirubinemia (HP:0002908)1.45175904
95Aplasia/Hypoplasia of the sternum (HP:0006714)1.44869781
96Abnormality of vitamin B metabolism (HP:0004340)1.44754883
97Gastrointestinal atresia (HP:0002589)1.43565194
98Hemivertebrae (HP:0002937)1.43073893
99Rhabdomyosarcoma (HP:0002859)1.42153527
100Chromsome breakage (HP:0040012)1.41987850

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TRIM282.73178959
2TSSK62.69675856
3BCR2.64533016
4WNK32.61146712
5CASK2.48214671
6EIF2AK32.34441142
7MKNK22.16968894
8ERBB32.16014640
9SRPK12.13795823
10MST42.06542580
11NEK12.05629346
12FRK2.01690311
13TNIK2.01266660
14EIF2AK12.00731799
15PLK31.85686413
16MAP3K41.74724235
17MKNK11.72370042
18TTK1.69031966
19PLK21.66467170
20PNCK1.66431441
21CSNK1G11.62522346
22CSNK1G21.59830588
23MAP4K21.56738103
24CSNK1G31.55809485
25PBK1.54184745
26STK391.53043414
27FER1.48709866
28ZAK1.44841153
29CSNK1A1L1.41786295
30WEE11.40961229
31NUAK11.40337008
32BRSK21.39420666
33PLK41.24240937
34BMPR1B1.22476535
35MAP2K71.20566110
36MARK11.14972226
37EPHA41.14823328
38STK38L1.10638616
39MAP3K121.07167319
40BUB11.06789593
41DYRK21.06430089
42TAF11.00565446
43ERBB40.99412746
44PLK10.98671327
45CDC70.90748740
46ACVR1B0.90178796
47PAK30.87573165
48WNK40.86909448
49LATS10.84763228
50FGFR20.83827282
51EPHA30.80748615
52MINK10.79271929
53YES10.78467245
54AKT30.77890842
55VRK10.76216466
56NTRK30.75764456
57STK30.75116002
58MET0.74936040
59PRKCE0.74223296
60LMTK20.73930460
61MAPK130.71743255
62PRKCG0.71536516
63EPHB20.71202489
64STK160.69652359
65CDK60.69463801
66FGFR10.65612547
67GRK10.65152699
68PINK10.64457656
69CSNK1E0.60904651
70EIF2AK20.60709720
71KSR10.60393696
72PHKG20.60347859
73PHKG10.60347859
74ATM0.59897115
75PRKD30.59853990
76CAMK1G0.59196747
77OXSR10.56820492
78SCYL20.55290838
79LIMK10.54677203
80RPS6KA40.53315753
81CCNB10.51568969
82STK240.50757552
83NTRK10.50637447
84BRSK10.49449148
85LATS20.47692562
86PAK40.47671643
87ROCK20.45802440
88AKT20.45305447
89MAPKAPK50.43980461
90CHEK20.43947408
91PIM20.43023465
92MST1R0.42948091
93ATR0.42875614
94DYRK30.42605014
95CSNK1A10.41308594
96INSRR0.37408990
97CHEK10.36806146
98PRKAA10.35615863
99EPHA20.35559114
100AURKB0.34978683

Predicted pathways (KEGG)

RankGene SetZ-score
1* Steroid biosynthesis_Homo sapiens_hsa001004.77113547
2Terpenoid backbone biosynthesis_Homo sapiens_hsa009004.08075145
3Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.44969689
4Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.81149810
5Protein export_Homo sapiens_hsa030602.58642600
6Propanoate metabolism_Homo sapiens_hsa006402.30968214
7Vitamin B6 metabolism_Homo sapiens_hsa007502.16968392
8Butanoate metabolism_Homo sapiens_hsa006502.13412122
9Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.12077550
10Fatty acid metabolism_Homo sapiens_hsa012121.94165494
11Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.86361699
12Fatty acid elongation_Homo sapiens_hsa000621.76192167
13Pyruvate metabolism_Homo sapiens_hsa006201.65227785
14Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.60923575
15Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.57866501
16Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.56814062
17Maturity onset diabetes of the young_Homo sapiens_hsa049501.47416307
18Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.43829038
19Pentose and glucuronate interconversions_Homo sapiens_hsa000401.38437570
20Non-homologous end-joining_Homo sapiens_hsa034501.36484644
212-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.36276938
22Selenocompound metabolism_Homo sapiens_hsa004501.34303503
23Cysteine and methionine metabolism_Homo sapiens_hsa002701.32300346
24Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.30310119
25Fatty acid degradation_Homo sapiens_hsa000711.28255568
26Primary bile acid biosynthesis_Homo sapiens_hsa001201.26772217
27Steroid hormone biosynthesis_Homo sapiens_hsa001401.26287045
28Sulfur metabolism_Homo sapiens_hsa009201.23426954
29Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.13873403
30Retinol metabolism_Homo sapiens_hsa008301.07218183
31Carbon metabolism_Homo sapiens_hsa012001.05127619
32Fat digestion and absorption_Homo sapiens_hsa049751.03422206
33Peroxisome_Homo sapiens_hsa041461.02645714
34Proteasome_Homo sapiens_hsa030501.01082598
35Biosynthesis of amino acids_Homo sapiens_hsa012301.00932102
36Arginine biosynthesis_Homo sapiens_hsa002200.98801532
37Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.98619150
38One carbon pool by folate_Homo sapiens_hsa006700.97862285
39Tryptophan metabolism_Homo sapiens_hsa003800.97417272
40Fatty acid biosynthesis_Homo sapiens_hsa000610.97048790
41Basal transcription factors_Homo sapiens_hsa030220.95508249
42Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.94841301
43Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.92489780
44Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.91229136
45Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.87576936
46Mismatch repair_Homo sapiens_hsa034300.87371210
47Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.87324478
48Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.87232500
49Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.85558333
50beta-Alanine metabolism_Homo sapiens_hsa004100.82875772
51Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.81256204
52Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.80557346
53Chemical carcinogenesis_Homo sapiens_hsa052040.78709982
54RNA transport_Homo sapiens_hsa030130.78157316
55Caffeine metabolism_Homo sapiens_hsa002320.76813065
56Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.75523923
57Arginine and proline metabolism_Homo sapiens_hsa003300.73989142
58Bile secretion_Homo sapiens_hsa049760.72646355
59N-Glycan biosynthesis_Homo sapiens_hsa005100.72176857
60Fanconi anemia pathway_Homo sapiens_hsa034600.69147062
61* Metabolic pathways_Homo sapiens_hsa011000.68380088
62Homologous recombination_Homo sapiens_hsa034400.66242084
63RNA degradation_Homo sapiens_hsa030180.65562470
64Starch and sucrose metabolism_Homo sapiens_hsa005000.65127363
65Complement and coagulation cascades_Homo sapiens_hsa046100.64574681
66Folate biosynthesis_Homo sapiens_hsa007900.64272773
67PPAR signaling pathway_Homo sapiens_hsa033200.64078078
68Nucleotide excision repair_Homo sapiens_hsa034200.58760187
69RNA polymerase_Homo sapiens_hsa030200.58632146
70Vibrio cholerae infection_Homo sapiens_hsa051100.57023195
71Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.56613884
72Hippo signaling pathway_Homo sapiens_hsa043900.55388245
73Glutathione metabolism_Homo sapiens_hsa004800.53592933
74Drug metabolism - other enzymes_Homo sapiens_hsa009830.51723149
75Oxidative phosphorylation_Homo sapiens_hsa001900.51204679
76Sphingolipid metabolism_Homo sapiens_hsa006000.47614409
77Cell cycle_Homo sapiens_hsa041100.46683478
78Oocyte meiosis_Homo sapiens_hsa041140.46391228
79Phenylalanine metabolism_Homo sapiens_hsa003600.46244446
80Histidine metabolism_Homo sapiens_hsa003400.45856771
81Vitamin digestion and absorption_Homo sapiens_hsa049770.43960456
82Tyrosine metabolism_Homo sapiens_hsa003500.42971809
83Lysine degradation_Homo sapiens_hsa003100.42410779
84Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.42238397
85Nitrogen metabolism_Homo sapiens_hsa009100.40667593
86Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.39804584
87DNA replication_Homo sapiens_hsa030300.39169952
88Ovarian steroidogenesis_Homo sapiens_hsa049130.39095568
89TGF-beta signaling pathway_Homo sapiens_hsa043500.38130914
90Spliceosome_Homo sapiens_hsa030400.37031674
91Circadian rhythm_Homo sapiens_hsa047100.35145326
92Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.34997739
93Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.34178342
94Parkinsons disease_Homo sapiens_hsa050120.33921516
95mRNA surveillance pathway_Homo sapiens_hsa030150.33399246
96Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.32198803
97Ether lipid metabolism_Homo sapiens_hsa005650.30897417
98alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.30542465
99Nicotine addiction_Homo sapiens_hsa050330.30307066
100Glycerolipid metabolism_Homo sapiens_hsa005610.30243787

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