SCD

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 an enzyme involved in fatty acid biosynthesis, primarily the synthesis of oleic acid. The protein belongs to the fatty acid desaturase family and is an integral membrane protein located in the endoplasmic reticulum. Transcripts of approximately 3.9 and 5.2 kb, differing only by alternative polyadenlyation signals, have been detected. A gene encoding a similar enzyme is located on chromosome 4 and a pseudogene of this gene is located on chromosome 17. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1low-density lipoprotein particle clearance (GO:0034383)6.27538380
2alpha-linolenic acid metabolic process (GO:0036109)5.68858807
3fatty acid homeostasis (GO:0055089)5.54913903
4long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)5.16661672
5fatty-acyl-CoA biosynthetic process (GO:0046949)5.11247047
6biotin metabolic process (GO:0006768)4.90093596
7acyl-CoA biosynthetic process (GO:0071616)4.79475892
8thioester biosynthetic process (GO:0035384)4.79475892
9long-chain fatty-acyl-CoA metabolic process (GO:0035336)4.70089694
10triglyceride biosynthetic process (GO:0019432)4.40906775
11cholesterol biosynthetic process (GO:0006695)4.29119964
12fatty-acyl-CoA metabolic process (GO:0035337)4.22494287
13acylglycerol biosynthetic process (GO:0046463)4.20714630
14neutral lipid biosynthetic process (GO:0046460)4.20714630
15regulation of cholesterol biosynthetic process (GO:0045540)4.11432261
16triglyceride catabolic process (GO:0019433)4.03334740
17acetyl-CoA metabolic process (GO:0006084)4.00586140
18linoleic acid metabolic process (GO:0043651)3.96256639
19acylglycerol catabolic process (GO:0046464)3.85921357
20neutral lipid catabolic process (GO:0046461)3.85921357
21sterol biosynthetic process (GO:0016126)3.66021860
22L-serine transport (GO:0015825)3.50479098
23acyl-CoA metabolic process (GO:0006637)3.41542147
24thioester metabolic process (GO:0035383)3.41542147
25plasma lipoprotein particle clearance (GO:0034381)3.35981666
26tricarboxylic acid metabolic process (GO:0072350)3.31080002
27triglyceride metabolic process (GO:0006641)3.16655504
28embryonic retina morphogenesis in camera-type eye (GO:0060059)3.16599261
29response to lipoprotein particle (GO:0055094)3.06455478
30CDP-diacylglycerol biosynthetic process (GO:0016024)3.05591022
31regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)3.03164950
32regulation of cholesterol homeostasis (GO:2000188)3.03065285
33COPI coating of Golgi vesicle (GO:0048205)3.01574051
34Golgi transport vesicle coating (GO:0048200)3.01574051
35paraxial mesoderm development (GO:0048339)2.99836731
36coenzyme A metabolic process (GO:0015936)2.99531397
37glycerolipid catabolic process (GO:0046503)2.96274344
38acylglycerol metabolic process (GO:0006639)2.95053183
39NADH metabolic process (GO:0006734)2.93525406
40CDP-diacylglycerol metabolic process (GO:0046341)2.90170997
41neutral lipid metabolic process (GO:0006638)2.90048825
42proline biosynthetic process (GO:0006561)2.85013291
43fatty acid elongation (GO:0030497)2.79376175
44diacylglycerol metabolic process (GO:0046339)2.76815299
45serine transport (GO:0032329)2.76459387
46regulation of cholesterol storage (GO:0010885)2.74766586
47glucose 6-phosphate metabolic process (GO:0051156)2.74400275
48L-serine metabolic process (GO:0006563)2.73942438
49lipid particle organization (GO:0034389)2.70394021
50maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.68044323
51regulation of triglyceride biosynthetic process (GO:0010866)2.63588533
52regulation of cholesterol metabolic process (GO:0090181)2.61307493
53cytoskeletal anchoring at plasma membrane (GO:0007016)2.60890253
54positive regulation of glucose import (GO:0046326)2.58265518
55regulation of glycogen (starch) synthase activity (GO:2000465)2.57630226
56protein retention in ER lumen (GO:0006621)2.57406964
57coenzyme A biosynthetic process (GO:0015937)2.56485639
58ethanol oxidation (GO:0006069)2.55645289
59NADPH regeneration (GO:0006740)2.52180630
60regulation of cAMP-dependent protein kinase activity (GO:2000479)2.51521737
61layer formation in cerebral cortex (GO:0021819)2.46839399
62positive regulation of cellular response to insulin stimulus (GO:1900078)2.45599420
63cholesterol metabolic process (GO:0008203)2.44189178
64white fat cell differentiation (GO:0050872)2.44058095
65regulation of translational fidelity (GO:0006450)2.43585763
66carnitine shuttle (GO:0006853)2.42001568
67positive regulation of glucose transport (GO:0010828)2.41041346
68hemidesmosome assembly (GO:0031581)2.40187332
69very-low-density lipoprotein particle assembly (GO:0034379)2.38660513
70protein complex localization (GO:0031503)2.37255234
71gluconeogenesis (GO:0006094)2.36305267
72cellular protein complex localization (GO:0034629)2.32942907
73nuclear pore complex assembly (GO:0051292)2.32517737
74oxaloacetate metabolic process (GO:0006107)2.31716802
75protein localization to cell surface (GO:0034394)2.31249039
76negative regulation of fatty acid biosynthetic process (GO:0045717)2.30568002
77cellular response to fatty acid (GO:0071398)2.26757793
78monosaccharide biosynthetic process (GO:0046364)2.26731761
79pentose-phosphate shunt (GO:0006098)2.23539011
80glucose catabolic process (GO:0006007)2.22288664
81desmosome organization (GO:0002934)2.21306592
82retina vasculature morphogenesis in camera-type eye (GO:0061299)2.20657578
83regulation of sequestering of triglyceride (GO:0010889)2.20523034
84retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.20138861
85proline metabolic process (GO:0006560)2.19697812
86planar cell polarity pathway involved in neural tube closure (GO:0090179)2.19396465
87phospholipid homeostasis (GO:0055091)2.19111105
88cellular modified amino acid catabolic process (GO:0042219)2.19092777
89hexose biosynthetic process (GO:0019319)2.18827624
90regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.18646404
91dicarboxylic acid biosynthetic process (GO:0043650)2.18397976
92ethanol metabolic process (GO:0006067)2.18222735
93notochord development (GO:0030903)2.17961259
94sterol metabolic process (GO:0016125)2.16519736
95glutamine family amino acid biosynthetic process (GO:0009084)2.15221726
96adherens junction assembly (GO:0034333)2.14255056
97cellular response to prostaglandin stimulus (GO:0071379)2.12265061
98very long-chain fatty acid metabolic process (GO:0000038)2.11973222
99regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.11685504
100fatty acid transmembrane transport (GO:1902001)2.11410549

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse5.42728662
2TP63_17297297_ChIP-ChIP_HaCaT_Human4.36821761
3CLOCK_20551151_ChIP-Seq_293T_Human3.69672533
4E2F7_22180533_ChIP-Seq_HELA_Human3.45894406
5ZNF263_19887448_ChIP-Seq_K562_Human3.07260812
6ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.59119101
7TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.58247016
8AR_21909140_ChIP-Seq_LNCAP_Human2.57440110
9FOXM1_23109430_ChIP-Seq_U2OS_Human2.38837554
10RBPJ_22232070_ChIP-Seq_NCS_Mouse2.31649733
11ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.27371480
12NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.22477720
13NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.09460595
14TRIM28_21343339_ChIP-Seq_HEK293_Human2.08318503
15POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.05083499
16WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.04735043
17ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.93516034
18TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.92724520
19ESR1_15608294_ChIP-ChIP_MCF-7_Human1.90595208
20PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.89756836
21ZFP281_18757296_ChIP-ChIP_E14_Mouse1.87026935
22* HIF1A_21447827_ChIP-Seq_MCF-7_Human1.85513966
23RXR_22158963_ChIP-Seq_LIVER_Mouse1.77362373
24PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.75240846
25SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.71415611
26SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.70854594
27TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.66439362
28ESR2_21235772_ChIP-Seq_MCF-7_Human1.62542209
29KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.60146171
30FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.59457985
31ZFX_18555785_ChIP-Seq_MESCs_Mouse1.50074085
32NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.48269931
33CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.45460729
34LXR_22158963_ChIP-Seq_LIVER_Mouse1.43313966
35SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.43005479
36KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.42721577
37SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.42115729
38SALL1_21062744_ChIP-ChIP_HESCs_Human1.39537913
39MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.39137131
40WT1_19549856_ChIP-ChIP_CCG9911_Human1.36436224
41TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.35800378
42PPARA_22158963_ChIP-Seq_LIVER_Mouse1.35710391
43KLF4_18555785_ChIP-Seq_MESCs_Mouse1.34637223
44NANOG_21062744_ChIP-ChIP_HESCs_Human1.33817231
45TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.30236583
46RARG_19884340_ChIP-ChIP_MEFs_Mouse1.30203103
47MYCN_18555785_ChIP-Seq_MESCs_Mouse1.30106154
48ESR1_20079471_ChIP-ChIP_T-47D_Human1.29053840
49P300_27058665_Chip-Seq_ZR-75-30cells_Human1.26208146
50MYC_18555785_ChIP-Seq_MESCs_Mouse1.25664314
51DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.24360418
52NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.22996688
53RACK7_27058665_Chip-Seq_MCF-7_Human1.22673928
54ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.21857559
55TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.21500812
56CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.20794813
57EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.18873162
58SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.17965080
59ZNF217_24962896_ChIP-Seq_MCF-7_Human1.17541726
60ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.15993115
61NELFA_20434984_ChIP-Seq_ESCs_Mouse1.14881069
62KDM2B_26808549_Chip-Seq_K562_Human1.14816592
63CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.13897260
64SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.13582529
65TCF3_18692474_ChIP-Seq_MEFs_Mouse1.12140926
66NANOG_18555785_ChIP-Seq_MESCs_Mouse1.11839648
67ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.08266920
68FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.07109515
69ZFP281_27345836_Chip-Seq_ESCs_Mouse1.06820223
70EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.06603681
71NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.06305650
72ESR1_21235772_ChIP-Seq_MCF-7_Human1.06232801
73POU5F1_16518401_ChIP-PET_MESCs_Mouse1.06066434
74CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.04308434
75MYC_19079543_ChIP-ChIP_MESCs_Mouse1.03474812
76ERG_21242973_ChIP-ChIP_JURKAT_Human1.02336898
77FOXA2_19822575_ChIP-Seq_HepG2_Human1.02125523
78STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.01949959
79TRIM28_19339689_ChIP-ChIP_MESCs_Mouse1.01836497
80* CHD1_26751641_Chip-Seq_LNCaP_Human1.01461695
81* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.01439824
82NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.01141712
83RARB_27405468_Chip-Seq_BRAIN_Mouse1.00614127
84SOX17_20123909_ChIP-Seq_XEN_Mouse0.99802738
85CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.99608887
86SALL4_18804426_ChIP-ChIP_XEN_Mouse0.99007868
87SOX2_27498859_Chip-Seq_STOMACH_Mouse0.97968411
88EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse0.97913974
89DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.97541252
90CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.96324800
91POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.96251390
92RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.95811132
93ATF3_27146783_Chip-Seq_COLON_Human0.95197965
94YAP1_20516196_ChIP-Seq_MESCs_Mouse0.93368747
95PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.92038493
96SOX9_24532713_ChIP-Seq_HFSC_Mouse0.91178937
97CTNNB1_20460455_ChIP-Seq_HCT116_Human0.90888641
98TET1_21490601_ChIP-Seq_MESCs_Mouse0.89612851
99GATA3_24758297_ChIP-Seq_MCF-7_Human0.88685455
100NANOG_18347094_ChIP-ChIP_MESCs_Mouse0.88010652

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005670_abnormal_white_adipose3.33343934
2MP0004185_abnormal_adipocyte_glucose2.91758854
3MP0005666_abnormal_adipose_tissue2.76995988
4MP0010234_abnormal_vibrissa_follicle2.74886801
5MP0002971_abnormal_brown_adipose2.41107315
6MP0003705_abnormal_hypodermis_morpholog2.37151797
7MP0009672_abnormal_birth_weight2.35384758
8MP0009780_abnormal_chondrocyte_physiolo2.13792541
9MP0003122_maternal_imprinting2.09280988
10MP0005375_adipose_tissue_phenotype2.03119227
11MP0004272_abnormal_basement_membrane2.01324961
12MP0002139_abnormal_hepatobiliary_system2.00467580
13MP0010329_abnormal_lipoprotein_level1.95493816
14MP0000566_synostosis1.89062788
15MP0003941_abnormal_skin_development1.79176013
16MP0003123_paternal_imprinting1.77296688
17MP0003329_amyloid_beta_deposits1.70130488
18MP0004130_abnormal_muscle_cell1.63319572
19MP0002877_abnormal_melanocyte_morpholog1.60387196
20MP0002970_abnormal_white_adipose1.59057628
21MP0002909_abnormal_adrenal_gland1.57555479
22MP0000537_abnormal_urethra_morphology1.56899330
23MP0000579_abnormal_nail_morphology1.54158936
24MP0000003_abnormal_adipose_tissue1.53524605
25MP0002796_impaired_skin_barrier1.53416282
26MP0005076_abnormal_cell_differentiation1.52535914
27MP0004270_analgesia1.49431195
28MP0005409_darkened_coat_color1.42029771
29MP0003868_abnormal_feces_composition1.41135750
30MP0003566_abnormal_cell_adhesion1.41040651
31MP0004782_abnormal_surfactant_physiolog1.36202582
32MP0001177_atelectasis1.32126208
33MP0009703_decreased_birth_body1.31911981
34MP0005257_abnormal_intraocular_pressure1.30586560
35MP0004233_abnormal_muscle_weight1.28737136
36MP0009115_abnormal_fat_cell1.28243081
37MP0001661_extended_life_span1.26912318
38MP0002118_abnormal_lipid_homeostasis1.26171973
39MP0005334_abnormal_fat_pad1.22814768
40MP0003959_abnormal_lean_body1.17879824
41MP0003890_abnormal_embryonic-extraembry1.17124609
42MP0004858_abnormal_nervous_system1.15428155
43MP0000778_abnormal_nervous_system1.15102146
44MP0005623_abnormal_meninges_morphology1.14052921
45MP0005248_abnormal_Harderian_gland1.10953916
46MP0004859_abnormal_synaptic_plasticity1.10805147
47MP0001299_abnormal_eye_distance/1.07270277
48MP0003942_abnormal_urinary_system1.06654769
49MP0006138_congestive_heart_failure1.06457218
50MP0000462_abnormal_digestive_system1.05581417
51MP0002697_abnormal_eye_size1.05496921
52MP0005501_abnormal_skin_physiology1.04510911
53MP0000762_abnormal_tongue_morphology1.03534697
54MP0001849_ear_inflammation1.01485122
55MP0003011_delayed_dark_adaptation1.01381211
56MP0008438_abnormal_cutaneous_collagen1.01157697
57MP0003690_abnormal_glial_cell0.97084023
58MP0010030_abnormal_orbit_morphology0.96560789
59MP0008932_abnormal_embryonic_tissue0.94554145
60MP0005365_abnormal_bile_salt0.94367830
61MP0004264_abnormal_extraembryonic_tissu0.94347564
62MP0001529_abnormal_vocalization0.92925403
63MP0005452_abnormal_adipose_tissue0.92729542
64MP0002089_abnormal_postnatal_growth/wei0.92677637
65MP0003283_abnormal_digestive_organ0.92033137
66MP0009840_abnormal_foam_cell0.91637052
67MP0010352_gastrointestinal_tract_polyps0.91536001
68MP0004197_abnormal_fetal_growth/weight/0.90605153
69MP0001881_abnormal_mammary_gland0.89811149
70MP0003115_abnormal_respiratory_system0.89039348
71MP0003634_abnormal_glial_cell0.88712362
72MP0000534_abnormal_ureter_morphology0.88238671
73MP0001915_intracranial_hemorrhage0.87680450
74MP0001730_embryonic_growth_arrest0.86185744
75MP0003121_genomic_imprinting0.83328717
76MP0003385_abnormal_body_wall0.82898965
77MP0005380_embryogenesis_phenotype0.82357140
78MP0001672_abnormal_embryogenesis/_devel0.82357140
79MP0005448_abnormal_energy_balance0.80453305
80MP0003984_embryonic_growth_retardation0.80115318
81MP0002060_abnormal_skin_morphology0.79956752
82MP0002088_abnormal_embryonic_growth/wei0.79605049
83MP0004957_abnormal_blastocyst_morpholog0.79326514
84MP0000609_abnormal_liver_physiology0.78470523
85MP0002084_abnormal_developmental_patter0.76146509
86MP0003937_abnormal_limbs/digits/tail_de0.75239088
87MP0002111_abnormal_tail_morphology0.74584467
88MP0001346_abnormal_lacrimal_gland0.74108356
89MP0003191_abnormal_cellular_cholesterol0.73214723
90MP0005535_abnormal_body_temperature0.72192511
91MP0000467_abnormal_esophagus_morphology0.72071790
92MP0000627_abnormal_mammary_gland0.71505525
93MP0010678_abnormal_skin_adnexa0.71500295
94MP0003861_abnormal_nervous_system0.71164083
95MP0003119_abnormal_digestive_system0.70221346
96MP0002085_abnormal_embryonic_tissue0.70200618
97MP0003453_abnormal_keratinocyte_physiol0.70093316
98MP0002896_abnormal_bone_mineralization0.69363910
99MP0003111_abnormal_nucleus_morphology0.69014321
100MP0009053_abnormal_anal_canal0.68961912

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of glycolysis (HP:0004366)3.84367242
2Increased serum pyruvate (HP:0003542)3.58852602
3Back pain (HP:0003418)2.95182613
4Hypercholesterolemia (HP:0003124)2.82820628
5Cortical dysplasia (HP:0002539)2.72911591
6Asymmetry of the thorax (HP:0001555)2.71445079
7Cerebral inclusion bodies (HP:0100314)2.67397753
8Termporal pattern (HP:0011008)2.62232819
9Insidious onset (HP:0003587)2.62232819
10Increased nuchal translucency (HP:0010880)2.59467117
11Neurofibrillary tangles (HP:0002185)2.52412408
12Acanthosis nigricans (HP:0000956)2.51898516
13Hypoglycemic coma (HP:0001325)2.46816411
14Microglossia (HP:0000171)2.46039411
15Epidermoid cyst (HP:0200040)2.35080502
16Protrusio acetabuli (HP:0003179)2.31892043
17Hyperacusis (HP:0010780)2.29677349
18Deep venous thrombosis (HP:0002625)2.26610215
19Hypoglycemic seizures (HP:0002173)2.25678621
20Overlapping toe (HP:0001845)2.25311857
21Shallow orbits (HP:0000586)2.25047873
22Insomnia (HP:0100785)2.22979666
23Coronal craniosynostosis (HP:0004440)2.22946416
24Premature rupture of membranes (HP:0001788)2.20338799
25Hammertoe (HP:0001765)2.12701201
26Bronchomalacia (HP:0002780)2.10579261
27Aplasia involving bones of the upper limbs (HP:0009823)2.10335995
28Aplasia of the phalanges of the hand (HP:0009802)2.10335995
29Aplasia involving bones of the extremities (HP:0009825)2.10335995
30Septate vagina (HP:0001153)2.06303551
31Skin nodule (HP:0200036)2.05044091
32Turricephaly (HP:0000262)2.04840418
33Generalized hypotonia (HP:0001290)2.03722279
34Hepatoblastoma (HP:0002884)2.01103050
35Arnold-Chiari malformation (HP:0002308)2.01009491
36Ulnar bowing (HP:0003031)2.00402869
37Advanced eruption of teeth (HP:0006288)1.97155342
38Pterygium (HP:0001059)1.94035282
39Breech presentation (HP:0001623)1.91175814
40Xanthomatosis (HP:0000991)1.91028146
41Bifid scrotum (HP:0000048)1.86786140
42Enlarged penis (HP:0000040)1.84094887
43Arterial tortuosity (HP:0005116)1.82659012
44Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.82635719
45Vertebral hypoplasia (HP:0008417)1.79489633
46Aplasia/Hypoplasia of the vertebrae (HP:0008515)1.79489633
47Vertebral arch anomaly (HP:0008438)1.78550580
48Ankyloglossia (HP:0010296)1.74170697
49Hyperparathyroidism (HP:0000843)1.71573293
50Missing ribs (HP:0000921)1.71115368
51Overriding aorta (HP:0002623)1.70845205
52Precocious puberty (HP:0000826)1.70829467
53Myelomeningocele (HP:0002475)1.68405188
54Macroorchidism (HP:0000053)1.67981408
55Insulin resistance (HP:0000855)1.67962034
56Abnormality of the gastric mucosa (HP:0004295)1.67243746
57Hypertriglyceridemia (HP:0002155)1.66303883
58Vascular tortuosity (HP:0004948)1.66081703
59Rhizomelia (HP:0008905)1.64790380
60Heterotopia (HP:0002282)1.64753562
61Hyperinsulinemic hypoglycemia (HP:0000825)1.62622462
62Cholecystitis (HP:0001082)1.62210653
63Abnormal gallbladder physiology (HP:0012438)1.62210653
64Atrophic scars (HP:0001075)1.61519230
65Abnormality of carpal bone ossification (HP:0006257)1.60496889
66Renal duplication (HP:0000075)1.60286843
67Abnormality of the lower motor neuron (HP:0002366)1.58913596
68Difficulty running (HP:0009046)1.57793466
69Deviation of the thumb (HP:0009603)1.57503281
70Spastic diplegia (HP:0001264)1.56914760
71Renovascular hypertension (HP:0100817)1.56726240
72Vertebral compression fractures (HP:0002953)1.56330634
73Growth hormone excess (HP:0000845)1.55715362
74Papillary thyroid carcinoma (HP:0002895)1.53598579
75Hypercortisolism (HP:0001578)1.51108258
76High anterior hairline (HP:0009890)1.50206561
77Pseudobulbar signs (HP:0002200)1.49748478
78Facial hemangioma (HP:0000329)1.49288775
79Hemorrhage of the eye (HP:0011885)1.48923275
80Impaired pain sensation (HP:0007328)1.48744934
81Abnormality of pain sensation (HP:0010832)1.48744934
82Proximal placement of thumb (HP:0009623)1.46458097
83Elfin facies (HP:0004428)1.46170243
84Right ventricular cardiomyopathy (HP:0011663)1.45761491
85Multiple enchondromatosis (HP:0005701)1.43942162
86Choanal stenosis (HP:0000452)1.43914800
87Oligomenorrhea (HP:0000876)1.42547727
88Hyperglycinuria (HP:0003108)1.42403438
89Myocardial infarction (HP:0001658)1.41821475
90Abnormality of aromatic amino acid family metabolism (HP:0004338)1.41659538
91Abnormality of glycine metabolism (HP:0010895)1.40247341
92Abnormality of serine family amino acid metabolism (HP:0010894)1.40247341
93Relative macrocephaly (HP:0004482)1.37793234
94Hypercalcemia (HP:0003072)1.37317582
95Abnormality of dentin (HP:0010299)1.36455040
96Upper limb amyotrophy (HP:0009129)1.36118673
97Distal upper limb amyotrophy (HP:0007149)1.36118673
98Abnormal cartilage morphology (HP:0002763)1.35742358
99Hypoplastic pelvis (HP:0008839)1.35200617
100Symptomatic seizures (HP:0011145)1.34951343

Predicted kinase interactions (KEA)

RankGene SetZ-score
1SIK14.43192211
2LATS23.00561312
3TRIB32.92842559
4SCYL22.62447789
5NTRK12.43245468
6EEF2K2.27557381
7CAMK1D2.23934267
8ICK2.20591096
9CAMK1G2.06173314
10RIPK12.03703275
11PDGFRA1.92856321
12PKN21.90742672
13MAP3K91.86501682
14CDK121.82252796
15SMG11.78521603
16FGFR41.73022309
17TSSK61.72453095
18LATS11.68904892
19MET1.65953888
20EPHA21.57702394
21PNCK1.49313719
22EIF2AK11.49188611
23TTK1.48466922
24EPHB21.46379924
25PTK21.34310240
26CDK61.21565482
27PRKD31.21316318
28TYRO31.18714162
29PAK41.17303307
30MST1R1.09584203
31LMTK21.07816330
32BCR1.07053534
33MTOR1.05589356
34CASK1.04249742
35MARK11.03443888
36TESK11.02999570
37FGFR21.01428261
38KSR21.00141849
39RPS6KB20.99004312
40PBK0.93211378
41ARAF0.91780327
42WEE10.91507172
43FGFR10.90708677
44KSR10.89778227
45STK390.83797905
46BRSK10.82442586
47ALK0.81222014
48TAF10.80005385
49NEK10.79859541
50TRIM280.79262774
51YES10.79222400
52CDK180.77568535
53ERBB40.74002540
54NTRK20.73227477
55NEK60.72888291
56CDK150.72170334
57NTRK30.71411170
58BRD40.69063070
59FER0.69050073
60PRKAA20.68617731
61UHMK10.68106387
62CDK140.67352546
63PAK20.67348259
64RET0.65771230
65MAP2K10.65728450
66TNIK0.63967787
67CDK11A0.62677674
68MINK10.59804282
69STK38L0.58889381
70ROCK20.58679789
71PLK30.58303630
72PTK60.57444909
73CAMK2B0.55816798
74AKT20.55720831
75CDK70.55570335
76WNK40.52828753
77BMX0.52496677
78PRKAA10.51905514
79EIF2AK20.51031244
80CSNK1E0.50622579
81SRPK10.50287252
82FGFR30.49934496
83NEK20.49475753
84CDK90.48954876
85MAP3K100.48499655
86PAK60.48433333
87CLK10.48250205
88MAPK100.47737418
89MKNK10.46756779
90BRAF0.44390192
91PDGFRB0.43728060
92CDK10.42882843
93IRAK30.42717034
94CAMK2D0.42155879
95SIK30.41629498
96MAP3K20.40715743
97CDC70.40000949
98RPS6KB10.39183631
99MOS0.37808981
100STK30.37600532

Predicted pathways (KEGG)

RankGene SetZ-score
1* Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010404.10233424
2Steroid biosynthesis_Homo sapiens_hsa001003.49176056
3Fatty acid biosynthesis_Homo sapiens_hsa000613.10155975
4Pyruvate metabolism_Homo sapiens_hsa006202.74542710
5Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.74105916
6* Fatty acid metabolism_Homo sapiens_hsa012122.71332601
7Fatty acid elongation_Homo sapiens_hsa000622.49462786
8Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.32279450
9Propanoate metabolism_Homo sapiens_hsa006402.28652971
102-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.09288270
11* PPAR signaling pathway_Homo sapiens_hsa033202.03617014
12Vitamin B6 metabolism_Homo sapiens_hsa007502.02741483
13Carbon metabolism_Homo sapiens_hsa012001.84739529
14Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.83148783
15Biosynthesis of amino acids_Homo sapiens_hsa012301.66447016
16Fatty acid degradation_Homo sapiens_hsa000711.51735255
17Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.49821831
18Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.48938309
19Phenylalanine metabolism_Homo sapiens_hsa003601.42093270
20Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.39828166
21Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.38789283
22Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.35532607
23beta-Alanine metabolism_Homo sapiens_hsa004101.35341005
24Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.32873748
25* AMPK signaling pathway_Homo sapiens_hsa041521.23728191
26Glycerolipid metabolism_Homo sapiens_hsa005611.20580502
27Central carbon metabolism in cancer_Homo sapiens_hsa052301.19935578
28Lysine degradation_Homo sapiens_hsa003101.15866477
29Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.11825701
30Arginine biosynthesis_Homo sapiens_hsa002201.10265489
31Thyroid cancer_Homo sapiens_hsa052161.04009976
32Adherens junction_Homo sapiens_hsa045201.00701094
33Butanoate metabolism_Homo sapiens_hsa006501.00081696
34Insulin signaling pathway_Homo sapiens_hsa049100.99292342
35Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.97655541
36Pentose phosphate pathway_Homo sapiens_hsa000300.97379081
37Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.93049066
38Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.84826402
39Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.83457152
40One carbon pool by folate_Homo sapiens_hsa006700.81163882
41Fat digestion and absorption_Homo sapiens_hsa049750.80134287
42Endometrial cancer_Homo sapiens_hsa052130.77106384
43Tyrosine metabolism_Homo sapiens_hsa003500.76380501
44Bile secretion_Homo sapiens_hsa049760.75381724
45Arginine and proline metabolism_Homo sapiens_hsa003300.74947321
46Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.73882889
47Hippo signaling pathway_Homo sapiens_hsa043900.73827819
48Histidine metabolism_Homo sapiens_hsa003400.72056026
49ECM-receptor interaction_Homo sapiens_hsa045120.71830202
50Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.70238625
51Glucagon signaling pathway_Homo sapiens_hsa049220.64508011
52Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.63373600
53Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.62787516
54Thyroid hormone signaling pathway_Homo sapiens_hsa049190.62272361
55Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.62013961
56Adipocytokine signaling pathway_Homo sapiens_hsa049200.61932219
57Tight junction_Homo sapiens_hsa045300.60677290
58Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.57912870
59Longevity regulating pathway - mammal_Homo sapiens_hsa042110.57814845
60Fructose and mannose metabolism_Homo sapiens_hsa000510.56716364
61Axon guidance_Homo sapiens_hsa043600.56138071
62Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.55433842
63Cysteine and methionine metabolism_Homo sapiens_hsa002700.54773611
64Folate biosynthesis_Homo sapiens_hsa007900.54663282
65ErbB signaling pathway_Homo sapiens_hsa040120.52161392
66Thyroid hormone synthesis_Homo sapiens_hsa049180.50469417
67Basal cell carcinoma_Homo sapiens_hsa052170.50171658
68Prion diseases_Homo sapiens_hsa050200.49124011
69Proteoglycans in cancer_Homo sapiens_hsa052050.48539829
70Chronic myeloid leukemia_Homo sapiens_hsa052200.47052525
71MicroRNAs in cancer_Homo sapiens_hsa052060.46968545
72N-Glycan biosynthesis_Homo sapiens_hsa005100.45024001
73Estrogen signaling pathway_Homo sapiens_hsa049150.44014874
74Focal adhesion_Homo sapiens_hsa045100.43752309
75Galactose metabolism_Homo sapiens_hsa000520.43320665
76Cell cycle_Homo sapiens_hsa041100.43220766
77Melanogenesis_Homo sapiens_hsa049160.42912105
78Glioma_Homo sapiens_hsa052140.42465766
79Pentose and glucuronate interconversions_Homo sapiens_hsa000400.41189979
80mRNA surveillance pathway_Homo sapiens_hsa030150.40982992
81Tryptophan metabolism_Homo sapiens_hsa003800.40604379
82Type II diabetes mellitus_Homo sapiens_hsa049300.40233364
83Wnt signaling pathway_Homo sapiens_hsa043100.40099940
84Insulin resistance_Homo sapiens_hsa049310.39033260
85Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.38360461
86Oocyte meiosis_Homo sapiens_hsa041140.37375446
87Long-term potentiation_Homo sapiens_hsa047200.37133491
88Renal cell carcinoma_Homo sapiens_hsa052110.36118840
89Vibrio cholerae infection_Homo sapiens_hsa051100.35469700
90Cyanoamino acid metabolism_Homo sapiens_hsa004600.34812195
91Prostate cancer_Homo sapiens_hsa052150.34306227
92mTOR signaling pathway_Homo sapiens_hsa041500.32838573
93Gap junction_Homo sapiens_hsa045400.31718381
94Peroxisome_Homo sapiens_hsa041460.31600398
95Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.30423532
96Starch and sucrose metabolism_Homo sapiens_hsa005000.30087937
97Ovarian steroidogenesis_Homo sapiens_hsa049130.29886918
98Sulfur relay system_Homo sapiens_hsa041220.29244771
99Glycerophospholipid metabolism_Homo sapiens_hsa005640.28034280
100Aldosterone synthesis and secretion_Homo sapiens_hsa049250.27772454

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