CYP27C1

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. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1behavioral response to nicotine (GO:0035095)5.39421286
2L-fucose catabolic process (GO:0042355)4.88178290
3fucose catabolic process (GO:0019317)4.88178290
4L-fucose metabolic process (GO:0042354)4.88178290
5detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.99214853
6tryptophan catabolic process (GO:0006569)3.93189121
7indole-containing compound catabolic process (GO:0042436)3.93189121
8indolalkylamine catabolic process (GO:0046218)3.93189121
9response to pheromone (GO:0019236)3.92581752
10indolalkylamine metabolic process (GO:0006586)3.82875604
11kynurenine metabolic process (GO:0070189)3.76075986
12platelet dense granule organization (GO:0060155)3.47542522
13tryptophan metabolic process (GO:0006568)3.36813405
14epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.26960132
15cellular ketone body metabolic process (GO:0046950)3.18090494
16kidney morphogenesis (GO:0060993)3.15069328
17inner ear receptor stereocilium organization (GO:0060122)3.10213125
18nonmotile primary cilium assembly (GO:0035058)3.08567315
19neural tube formation (GO:0001841)3.05894325
20DNA deamination (GO:0045006)3.04783967
21detection of light stimulus involved in visual perception (GO:0050908)3.02075399
22detection of light stimulus involved in sensory perception (GO:0050962)3.02075399
23respiratory chain complex IV assembly (GO:0008535)2.94453217
24ketone body metabolic process (GO:1902224)2.93305318
25cornea development in camera-type eye (GO:0061303)2.92142474
26protein complex biogenesis (GO:0070271)2.92041428
27regulation of glucokinase activity (GO:0033131)2.91502522
28regulation of hexokinase activity (GO:1903299)2.91502522
29mitochondrial respiratory chain complex I assembly (GO:0032981)2.91458911
30NADH dehydrogenase complex assembly (GO:0010257)2.91458911
31mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.91458911
32nephron epithelium morphogenesis (GO:0072088)2.90648064
33nephron tubule morphogenesis (GO:0072078)2.90648064
34indole-containing compound metabolic process (GO:0042430)2.89960326
35amine catabolic process (GO:0009310)2.89594047
36cellular biogenic amine catabolic process (GO:0042402)2.89594047
37water-soluble vitamin biosynthetic process (GO:0042364)2.89592220
38axoneme assembly (GO:0035082)2.87274687
39epithelial cilium movement (GO:0003351)2.85331397
40somite development (GO:0061053)2.85044196
41negative regulation of telomere maintenance (GO:0032205)2.83447408
42reflex (GO:0060004)2.83374369
43regulation of nuclear cell cycle DNA replication (GO:0033262)2.81121370
44protein polyglutamylation (GO:0018095)2.81099251
45centriole replication (GO:0007099)2.80702302
46G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.80370305
47auditory receptor cell stereocilium organization (GO:0060088)2.79748411
48regulation of hippo signaling (GO:0035330)2.77547260
49piRNA metabolic process (GO:0034587)2.75655031
50gamma-aminobutyric acid transport (GO:0015812)2.75120241
51limb bud formation (GO:0060174)2.73570492
52behavioral response to ethanol (GO:0048149)2.72097410
53negative regulation of cytosolic calcium ion concentration (GO:0051481)2.71945084
54cilium morphogenesis (GO:0060271)2.70884972
55protein-cofactor linkage (GO:0018065)2.70381634
56mitochondrial respiratory chain complex assembly (GO:0033108)2.70046483
57cilium organization (GO:0044782)2.69960269
58mannosylation (GO:0097502)2.69163368
59regulation of neurotransmitter uptake (GO:0051580)2.68914846
60retinal cone cell development (GO:0046549)2.68528155
61regulation of cilium movement (GO:0003352)2.66134024
62replication fork processing (GO:0031297)2.64816702
63cytochrome complex assembly (GO:0017004)2.63750699
64protein localization to cilium (GO:0061512)2.63616739
65negative regulation of DNA-dependent DNA replication (GO:2000104)2.63148156
66photoreceptor cell development (GO:0042461)2.63086263
67sulfation (GO:0051923)2.62724998
68dopamine transport (GO:0015872)2.62006209
69preassembly of GPI anchor in ER membrane (GO:0016254)2.61244842
70pyrimidine nucleobase catabolic process (GO:0006208)2.60928234
71regulation of posttranscriptional gene silencing (GO:0060147)2.60709136
72regulation of gene silencing by miRNA (GO:0060964)2.60709136
73regulation of gene silencing by RNA (GO:0060966)2.60709136
74primary amino compound metabolic process (GO:1901160)2.59158741
75neuronal action potential (GO:0019228)2.58473737
76transmission of nerve impulse (GO:0019226)2.58052474
77cilium assembly (GO:0042384)2.57580771
78regulation of rhodopsin mediated signaling pathway (GO:0022400)2.57073149
79rhodopsin mediated signaling pathway (GO:0016056)2.55490805
80retinal ganglion cell axon guidance (GO:0031290)2.52961578
81regulation of mesoderm development (GO:2000380)2.52032768
82detection of mechanical stimulus involved in sensory perception (GO:0050974)2.49343424
83serotonin metabolic process (GO:0042428)2.48408603
84reciprocal DNA recombination (GO:0035825)2.48081189
85reciprocal meiotic recombination (GO:0007131)2.48081189
86presynaptic membrane assembly (GO:0097105)2.46944298
87spinal cord motor neuron differentiation (GO:0021522)2.45010444
88rRNA catabolic process (GO:0016075)2.43232431
89establishment of protein localization to mitochondrial membrane (GO:0090151)2.41748583
90recombinational repair (GO:0000725)2.41521145
91smoothened signaling pathway (GO:0007224)2.40847603
92negative regulation of transcription regulatory region DNA binding (GO:2000678)2.39436584
93cAMP catabolic process (GO:0006198)2.39388477
94double-strand break repair via homologous recombination (GO:0000724)2.38632300
95negative regulation of translation, ncRNA-mediated (GO:0040033)2.38151652
96regulation of translation, ncRNA-mediated (GO:0045974)2.38151652
97negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.38151652
98presynaptic membrane organization (GO:0097090)2.38040060
99renal tubule morphogenesis (GO:0061333)2.37056846
100negative regulation of mast cell activation (GO:0033004)2.37043973

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ZNF274_21170338_ChIP-Seq_K562_Hela3.79807870
2VDR_22108803_ChIP-Seq_LS180_Human3.23807114
3GLI1_17442700_ChIP-ChIP_MESCs_Mouse3.15348032
4EZH2_22144423_ChIP-Seq_EOC_Human3.13788424
5GBX2_23144817_ChIP-Seq_PC3_Human3.01378951
6ZFP57_27257070_Chip-Seq_ESCs_Mouse2.71253261
7GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.55874554
8POU3F2_20337985_ChIP-ChIP_501MEL_Human2.34205669
9FLI1_27457419_Chip-Seq_LIVER_Mouse2.33823172
10SALL1_21062744_ChIP-ChIP_HESCs_Human2.30362149
11CTBP2_25329375_ChIP-Seq_LNCAP_Human2.29979221
12IGF1R_20145208_ChIP-Seq_DFB_Human2.29348950
13FUS_26573619_Chip-Seq_HEK293_Human2.23994861
14EWS_26573619_Chip-Seq_HEK293_Human2.15874368
15CTBP1_25329375_ChIP-Seq_LNCAP_Human2.15865912
16P300_19829295_ChIP-Seq_ESCs_Human2.14063767
17HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.09913038
18TAF15_26573619_Chip-Seq_HEK293_Human2.03851679
19CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.92726439
20PCGF2_27294783_Chip-Seq_ESCs_Mouse1.87920325
21HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.81462351
22ER_23166858_ChIP-Seq_MCF-7_Human1.75242980
23AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.70032637
24MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.68702987
25BCAT_22108803_ChIP-Seq_LS180_Human1.63235658
26* EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.62342215
27MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.60005958
28PIAS1_25552417_ChIP-Seq_VCAP_Human1.58102810
29SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.58002668
30PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.57914215
31UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.57898938
32CBX2_27304074_Chip-Seq_ESCs_Mouse1.56416740
33TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.56113512
34NOTCH1_21737748_ChIP-Seq_TLL_Human1.53781082
35STAT3_23295773_ChIP-Seq_U87_Human1.52663030
36SMAD4_21799915_ChIP-Seq_A2780_Human1.52040357
37SUZ12_27294783_Chip-Seq_NPCs_Mouse1.47512056
38BMI1_23680149_ChIP-Seq_NPCS_Mouse1.46515955
39AR_25329375_ChIP-Seq_VCAP_Human1.46512906
40NR3C1_21868756_ChIP-Seq_MCF10A_Human1.45734814
41CBP_20019798_ChIP-Seq_JUKART_Human1.44056401
42IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.44056401
43* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.43067036
44* TCF4_23295773_ChIP-Seq_U87_Human1.41351316
45SMAD3_21741376_ChIP-Seq_EPCs_Human1.41144150
46TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.40424635
47POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.40424635
48PCGF2_27294783_Chip-Seq_NPCs_Mouse1.40358931
49MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.40284971
50TP53_22573176_ChIP-Seq_HFKS_Human1.40052412
51AR_21572438_ChIP-Seq_LNCaP_Human1.38417964
52IRF1_19129219_ChIP-ChIP_H3396_Human1.38382380
53EZH2_27294783_Chip-Seq_NPCs_Mouse1.38130915
54NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.37615154
55NFE2_27457419_Chip-Seq_LIVER_Mouse1.37030700
56MYC_18940864_ChIP-ChIP_HL60_Human1.36912788
57SOX2_19829295_ChIP-Seq_ESCs_Human1.36822984
58NANOG_19829295_ChIP-Seq_ESCs_Human1.36822984
59TOP2B_26459242_ChIP-Seq_MCF-7_Human1.31888592
60E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.31496412
61REST_21632747_ChIP-Seq_MESCs_Mouse1.30436689
62* TCF4_22108803_ChIP-Seq_LS180_Human1.30281797
63RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.29492476
64* FOXA1_25329375_ChIP-Seq_VCAP_Human1.29210190
65* FOXA1_27270436_Chip-Seq_PROSTATE_Human1.29210190
66RNF2_27304074_Chip-Seq_NSC_Mouse1.29145214
67GABP_17652178_ChIP-ChIP_JURKAT_Human1.27397018
68GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.26092219
69SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.24219569
70OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.22811873
71* RUNX2_22187159_ChIP-Seq_PCA_Human1.22057088
72KLF5_20875108_ChIP-Seq_MESCs_Mouse1.19930477
73EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.17387399
74NANOG_18555785_Chip-Seq_ESCs_Mouse1.16610226
75TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.16057843
76FLI1_21867929_ChIP-Seq_TH2_Mouse1.15003456
77POU5F1_16153702_ChIP-ChIP_HESCs_Human1.13498000
78CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.13076953
79GATA3_21878914_ChIP-Seq_MCF-7_Human1.11606193
80* SMAD4_21741376_ChIP-Seq_EPCs_Human1.10740953
81ETV2_25802403_ChIP-Seq_MESCs_Mouse1.09905704
82EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.09397880
83CRX_20693478_ChIP-Seq_RETINA_Mouse1.09328908
84EST1_17652178_ChIP-ChIP_JURKAT_Human1.08965725
85ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.08129177
86AR_20517297_ChIP-Seq_VCAP_Human1.07731543
87PRDM14_20953172_ChIP-Seq_ESCs_Human1.07729017
88* FOXA1_21572438_ChIP-Seq_LNCaP_Human1.07608139
89P53_22387025_ChIP-Seq_ESCs_Mouse1.07077486
90ELK1_19687146_ChIP-ChIP_HELA_Human1.06319408
91NCOR_22424771_ChIP-Seq_293T_Human1.01950103
92KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.01466394
93RBPJ_22232070_ChIP-Seq_NCS_Mouse1.01131925
94* HOXB7_26014856_ChIP-Seq_BT474_Human1.00530513
95EED_16625203_ChIP-ChIP_MESCs_Mouse1.00346102
96SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.99735605
97KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.99472814
98EZH2_27304074_Chip-Seq_ESCs_Mouse0.98908726
99STAT3_18555785_Chip-Seq_ESCs_Mouse0.98213122
100CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96869051

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003136_yellow_coat_color3.15540226
2MP0002102_abnormal_ear_morphology3.04830086
3MP0000569_abnormal_digit_pigmentation2.95154444
4MP0003195_calcinosis2.75165942
5MP0008877_abnormal_DNA_methylation2.58838204
6MP0006292_abnormal_olfactory_placode2.44335424
7MP0005551_abnormal_eye_electrophysiolog2.37961029
8MP0001968_abnormal_touch/_nociception2.12995571
9MP0002938_white_spotting2.09346042
10MP0003880_abnormal_central_pattern2.02007327
11MP0004885_abnormal_endolymph1.92079482
12MP0000566_synostosis1.91659521
13MP0002736_abnormal_nociception_after1.90599291
14MP0004142_abnormal_muscle_tone1.89669279
15MP0006072_abnormal_retinal_apoptosis1.87649955
16MP0002653_abnormal_ependyma_morphology1.83453037
17MP0002837_dystrophic_cardiac_calcinosis1.79274117
18MP0009046_muscle_twitch1.79227818
19MP0000372_irregular_coat_pigmentation1.79227277
20MP0000427_abnormal_hair_cycle1.78283773
21MP0002638_abnormal_pupillary_reflex1.78205591
22MP0005253_abnormal_eye_physiology1.77684325
23MP0005646_abnormal_pituitary_gland1.74479332
24MP0008872_abnormal_physiological_respon1.73353979
25MP0005174_abnormal_tail_pigmentation1.72302557
26MP0000631_abnormal_neuroendocrine_gland1.71979992
27MP0006276_abnormal_autonomic_nervous1.67552367
28MP0009745_abnormal_behavioral_response1.66461863
29MP0004133_heterotaxia1.61327706
30MP0004043_abnormal_pH_regulation1.58686394
31MP0002234_abnormal_pharynx_morphology1.58417532
32MP0003011_delayed_dark_adaptation1.58149182
33MP0001986_abnormal_taste_sensitivity1.56915283
34MP0000383_abnormal_hair_follicle1.53683665
35MP0001485_abnormal_pinna_reflex1.51489474
36MP0002928_abnormal_bile_duct1.48602861
37MP0008875_abnormal_xenobiotic_pharmacok1.48371322
38MP0002272_abnormal_nervous_system1.47641488
39MP0003787_abnormal_imprinting1.45417175
40MP0001529_abnormal_vocalization1.44784499
41MP0003646_muscle_fatigue1.43184738
42MP0002876_abnormal_thyroid_physiology1.43058733
43MP0005084_abnormal_gallbladder_morpholo1.42288049
44MP0005645_abnormal_hypothalamus_physiol1.40593752
45MP0001486_abnormal_startle_reflex1.39084559
46MP0004742_abnormal_vestibular_system1.38199525
47MP0005171_absent_coat_pigmentation1.34689430
48MP0003937_abnormal_limbs/digits/tail_de1.30754043
49MP0003283_abnormal_digestive_organ1.28976021
50MP0000778_abnormal_nervous_system1.27016858
51MP0001984_abnormal_olfaction1.22511728
52MP0000026_abnormal_inner_ear1.21963347
53MP0001501_abnormal_sleep_pattern1.21116636
54MP0002572_abnormal_emotion/affect_behav1.18270706
55MP0002163_abnormal_gland_morphology1.17239596
56MP0001293_anophthalmia1.16281634
57MP0002557_abnormal_social/conspecific_i1.15744553
58MP0005195_abnormal_posterior_eye1.13208575
59MP0004924_abnormal_behavior1.13177754
60MP0005386_behavior/neurological_phenoty1.13177754
61MP0002067_abnormal_sensory_capabilities1.12658057
62MP0002160_abnormal_reproductive_system1.08384494
63MP0002095_abnormal_skin_pigmentation1.07530116
64MP0008058_abnormal_DNA_repair1.06078547
65MP0005377_hearing/vestibular/ear_phenot1.04936595
66MP0003878_abnormal_ear_physiology1.04936595
67MP0002735_abnormal_chemical_nociception1.04101356
68MP0002733_abnormal_thermal_nociception1.03035279
69MP0002752_abnormal_somatic_nervous1.03009821
70MP0002064_seizures1.02890460
71MP0002751_abnormal_autonomic_nervous1.02769192
72MP0001970_abnormal_pain_threshold1.02113128
73MP0004147_increased_porphyrin_level1.01908491
74MP0005389_reproductive_system_phenotype1.01860357
75MP0003890_abnormal_embryonic-extraembry1.00167823
76MP0001905_abnormal_dopamine_level0.99222815
77MP0000647_abnormal_sebaceous_gland0.98788591
78MP0003252_abnormal_bile_duct0.97031944
79MP0003938_abnormal_ear_development0.96288535
80MP0001324_abnormal_eye_pigmentation0.96116255
81MP0002184_abnormal_innervation0.94244161
82MP0010386_abnormal_urinary_bladder0.93316537
83MP0000049_abnormal_middle_ear0.93247824
84MP0005187_abnormal_penis_morphology0.92589890
85MP0003119_abnormal_digestive_system0.89872587
86MP0003121_genomic_imprinting0.88844926
87MP0000230_abnormal_systemic_arterial0.86974468
88MP0008789_abnormal_olfactory_epithelium0.86468611
89MP0002063_abnormal_learning/memory/cond0.86453414
90MP0001963_abnormal_hearing_physiology0.86205853
91MP0005391_vision/eye_phenotype0.84975857
92MP0002277_abnormal_respiratory_mucosa0.82676361
93MP0003718_maternal_effect0.81097300
94MP0001919_abnormal_reproductive_system0.80978088
95MP0003635_abnormal_synaptic_transmissio0.80713512
96MP0000955_abnormal_spinal_cord0.79617922
97MP0001502_abnormal_circadian_rhythm0.79272602
98MP0004215_abnormal_myocardial_fiber0.78093813
99MP0008775_abnormal_heart_ventricle0.76317561
100MP0005379_endocrine/exocrine_gland_phen0.75343506

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)4.47406097
2True hermaphroditism (HP:0010459)4.08200009
3Abnormality of midbrain morphology (HP:0002418)4.03223246
4Molar tooth sign on MRI (HP:0002419)4.03223246
5Pancreatic fibrosis (HP:0100732)4.01736781
6Congenital stationary night blindness (HP:0007642)3.74857475
7Nephronophthisis (HP:0000090)3.74483087
8Type II lissencephaly (HP:0007260)3.63738373
9Abnormality of the renal medulla (HP:0100957)3.25418729
10Hyperventilation (HP:0002883)3.16997693
11Abnormality of the renal cortex (HP:0011035)3.04036163
12Medial flaring of the eyebrow (HP:0010747)3.03669169
13Cerebellar dysplasia (HP:0007033)2.96105517
14Tubular atrophy (HP:0000092)2.79721646
15Chronic hepatic failure (HP:0100626)2.70063622
16Attenuation of retinal blood vessels (HP:0007843)2.66908249
17Keratoconus (HP:0000563)2.64647189
18Increased corneal curvature (HP:0100692)2.64647189
19Cystic liver disease (HP:0006706)2.62937348
20Hyperalaninemia (HP:0003348)2.61434188
21Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.61434188
22Abnormality of alanine metabolism (HP:0010916)2.61434188
23Abnormal drinking behavior (HP:0030082)2.59648257
24Polydipsia (HP:0001959)2.59648257
25Sclerocornea (HP:0000647)2.59398853
26Congenital, generalized hypertrichosis (HP:0004540)2.58469531
27Large for gestational age (HP:0001520)2.58466652
28Abolished electroretinogram (ERG) (HP:0000550)2.53917573
29Abnormality of the pons (HP:0007361)2.53070590
30Hypoplasia of the pons (HP:0012110)2.45473305
31Inability to walk (HP:0002540)2.43956128
32Pendular nystagmus (HP:0012043)2.42672272
33Abnormal rod and cone electroretinograms (HP:0008323)2.42445055
34Broad-based gait (HP:0002136)2.36648614
35Furrowed tongue (HP:0000221)2.36137429
36Gaze-evoked nystagmus (HP:0000640)2.35965355
37Gait imbalance (HP:0002141)2.29999322
38Aplasia/Hypoplasia of the tongue (HP:0010295)2.29396609
39Lissencephaly (HP:0001339)2.27069718
40Congenital primary aphakia (HP:0007707)2.22976127
41Optic nerve hypoplasia (HP:0000609)2.19597262
42Hypothermia (HP:0002045)2.16891172
43Anencephaly (HP:0002323)2.14937965
44Aplasia/Hypoplasia of the tibia (HP:0005772)2.13730037
45Polyuria (HP:0000103)2.11702445
46Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.11117355
47Progressive cerebellar ataxia (HP:0002073)2.09677458
48Congenital hepatic fibrosis (HP:0002612)2.07466700
49Postaxial foot polydactyly (HP:0001830)2.06800238
50Decreased central vision (HP:0007663)2.06441893
51Progressive inability to walk (HP:0002505)2.04271862
52Genital tract atresia (HP:0001827)2.01959790
53Male pseudohermaphroditism (HP:0000037)2.00185712
54Concave nail (HP:0001598)1.99023918
55Vaginal atresia (HP:0000148)1.95912503
56Nephrogenic diabetes insipidus (HP:0009806)1.95314394
573-Methylglutaconic aciduria (HP:0003535)1.95165783
58Bilateral microphthalmos (HP:0007633)1.94577345
59Aplasia/Hypoplasia of the uvula (HP:0010293)1.92533968
60Fair hair (HP:0002286)1.90971844
61Patellar aplasia (HP:0006443)1.90504423
62Colon cancer (HP:0003003)1.89068975
63Genetic anticipation (HP:0003743)1.88805220
64Acute necrotizing encephalopathy (HP:0006965)1.88603691
65Chorioretinal atrophy (HP:0000533)1.88082979
66Anophthalmia (HP:0000528)1.87620243
67Bony spicule pigmentary retinopathy (HP:0007737)1.87241891
68Febrile seizures (HP:0002373)1.87217702
69Hemiparesis (HP:0001269)1.86396552
70Abnormality of the labia minora (HP:0012880)1.86250374
71Mitochondrial inheritance (HP:0001427)1.85294472
72Oligodactyly (hands) (HP:0001180)1.84906221
73Decreased circulating renin level (HP:0003351)1.84403933
74Severe muscular hypotonia (HP:0006829)1.83962877
75Renal cortical cysts (HP:0000803)1.82427576
76Postaxial hand polydactyly (HP:0001162)1.81810736
77Aplasia/Hypoplasia of the patella (HP:0006498)1.81721409
78Absent rod-and cone-mediated responses on ERG (HP:0007688)1.81639457
79Protruding tongue (HP:0010808)1.80489366
80Increased CSF lactate (HP:0002490)1.78869570
81Absent speech (HP:0001344)1.78475569
82Preaxial hand polydactyly (HP:0001177)1.78207128
83Intestinal atresia (HP:0011100)1.77059742
84Abnormal biliary tract physiology (HP:0012439)1.75526297
85Bile duct proliferation (HP:0001408)1.75526297
86Septo-optic dysplasia (HP:0100842)1.75318983
87Occipital encephalocele (HP:0002085)1.74677947
88Hypoplasia of the fovea (HP:0007750)1.74476922
89Aplasia/Hypoplasia of the fovea (HP:0008060)1.74476922
90Widely spaced teeth (HP:0000687)1.73346573
91Stomach cancer (HP:0012126)1.72859548
92Optic disc pallor (HP:0000543)1.71895516
93Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.70374073
94Dandy-Walker malformation (HP:0001305)1.68823406
95Hypomagnesemia (HP:0002917)1.68595335
96Clumsiness (HP:0002312)1.67901603
97Progressive macrocephaly (HP:0004481)1.67097149
98Abnormality of the renal collecting system (HP:0004742)1.66790668
99Pachygyria (HP:0001302)1.66412977
100Acute encephalopathy (HP:0006846)1.65662064

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK5.23300692
2ADRBK23.30025289
3PNCK2.98666017
4WNK32.95504128
5ZAK2.72301758
6NUAK12.48501444
7BMPR1B2.45482253
8CASK2.43724569
9MAP4K22.40684639
10ACVR1B2.28581132
11GRK12.24658175
12WNK42.02627619
13MAPK151.87822554
14TNIK1.87571525
15PINK11.86851004
16INSRR1.73019211
17TAOK31.71559897
18MAPK131.69557774
19WEE11.62368341
20TLK11.61721179
21MKNK21.54807630
22VRK11.48418459
23TRIM281.40341879
24MAP3K41.34405747
25VRK21.31535121
26STK391.23046403
27TAF11.20557592
28DYRK21.20474256
29OXSR11.19696857
30TGFBR11.19582871
31PAK31.19276802
32DAPK21.17979905
33ADRBK11.17015572
34STK38L1.14900720
35TXK1.13838717
36MARK11.10260843
37BRSK21.08037943
38NEK21.04017217
39FGFR21.00868119
40PRKCG1.00367625
41MKNK10.99918384
42NTRK30.97616379
43PLK20.88952512
44STK160.88819751
45PRKCE0.87978358
46PLK30.83713590
47EPHA40.83493720
48NLK0.80146132
49PTK2B0.73775937
50NTRK20.73707672
51TIE10.73497895
52EPHB20.72311982
53MAPKAPK50.71727367
54ERBB30.70940341
55CAMKK20.70432671
56PIK3CA0.69523365
57CSNK1G10.69061247
58AKT30.66502920
59MAP2K70.63607199
60BCKDK0.63411064
61CSNK1G20.62586890
62PHKG10.61914185
63PHKG20.61914185
64STK30.61796934
65MUSK0.54825968
66CAMK1G0.54797457
67CDK30.52430326
68BCR0.50873171
69CAMK2A0.50352652
70CAMK10.47883297
71PLK40.45587272
72CSNK1G30.44432670
73TSSK60.43376281
74MAP2K60.42341373
75RPS6KA50.41937072
76DYRK1A0.41146027
77SGK20.41113904
78CSNK1A10.40176142
79PKN10.40169227
80CCNB10.39402688
81PASK0.39390432
82PRKACA0.39292737
83PRKCQ0.38892432
84IRAK10.38343608
85DYRK30.38196689
86CHEK20.37176784
87PRKCI0.36202483
88KIT0.36112401
89CSNK1A1L0.35913930
90GRK50.35459602
91FLT30.34745170
92CAMK1D0.33807093
93CHUK0.33624280
94IKBKB0.33586824
95PLK10.32865922
96STK110.32653369
97LIMK10.32513797
98EIF2AK30.32478443
99NEK10.32092741
100ERBB20.31374342

Predicted pathways (KEGG)

RankGene SetZ-score
1Phototransduction_Homo sapiens_hsa047443.08562971
2Nitrogen metabolism_Homo sapiens_hsa009102.59345498
3Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.57683883
4Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.36337963
5Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.35528044
6Linoleic acid metabolism_Homo sapiens_hsa005912.33714698
7Butanoate metabolism_Homo sapiens_hsa006502.31467781
8Oxidative phosphorylation_Homo sapiens_hsa001902.28264450
9Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.22255289
10Protein export_Homo sapiens_hsa030602.20904632
11alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.14945117
12Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.11592850
13Selenocompound metabolism_Homo sapiens_hsa004502.11054264
14Homologous recombination_Homo sapiens_hsa034402.08707929
15Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.08076677
16Maturity onset diabetes of the young_Homo sapiens_hsa049502.03412015
17Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.96872242
18Fanconi anemia pathway_Homo sapiens_hsa034601.96490321
19Nicotine addiction_Homo sapiens_hsa050331.89319099
20Parkinsons disease_Homo sapiens_hsa050121.81701455
21Tryptophan metabolism_Homo sapiens_hsa003801.74916438
22Ether lipid metabolism_Homo sapiens_hsa005651.73140307
23Basal transcription factors_Homo sapiens_hsa030221.65872717
24Caffeine metabolism_Homo sapiens_hsa002321.62268075
25RNA polymerase_Homo sapiens_hsa030201.56138773
26Taste transduction_Homo sapiens_hsa047421.39963976
27Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.34879802
28Cardiac muscle contraction_Homo sapiens_hsa042601.25822592
29Primary bile acid biosynthesis_Homo sapiens_hsa001201.23521953
30Olfactory transduction_Homo sapiens_hsa047401.21725401
31Huntingtons disease_Homo sapiens_hsa050161.21443094
32Propanoate metabolism_Homo sapiens_hsa006401.20887555
33Morphine addiction_Homo sapiens_hsa050321.20694115
34RNA degradation_Homo sapiens_hsa030181.18361050
35Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.17070619
36Alzheimers disease_Homo sapiens_hsa050101.11641448
37One carbon pool by folate_Homo sapiens_hsa006701.10712912
38Peroxisome_Homo sapiens_hsa041461.08661034
39Regulation of autophagy_Homo sapiens_hsa041401.08596638
40Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.08420704
41Steroid hormone biosynthesis_Homo sapiens_hsa001401.06215448
42ABC transporters_Homo sapiens_hsa020101.05180764
43Hedgehog signaling pathway_Homo sapiens_hsa043401.01493514
44Insulin secretion_Homo sapiens_hsa049111.00601442
45Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.97714536
46Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.97059655
47Serotonergic synapse_Homo sapiens_hsa047260.96958518
48Arachidonic acid metabolism_Homo sapiens_hsa005900.93373199
49Chemical carcinogenesis_Homo sapiens_hsa052040.93231343
50Retinol metabolism_Homo sapiens_hsa008300.91831386
51Circadian entrainment_Homo sapiens_hsa047130.89850297
52Proteasome_Homo sapiens_hsa030500.89607994
53Basal cell carcinoma_Homo sapiens_hsa052170.89257744
54GABAergic synapse_Homo sapiens_hsa047270.85115535
55Intestinal immune network for IgA production_Homo sapiens_hsa046720.84162955
56Steroid biosynthesis_Homo sapiens_hsa001000.83948070
57Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.83665049
58Glutamatergic synapse_Homo sapiens_hsa047240.83476283
59Non-homologous end-joining_Homo sapiens_hsa034500.81775433
60Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.80494859
61Glycerolipid metabolism_Homo sapiens_hsa005610.78839632
62Purine metabolism_Homo sapiens_hsa002300.75801856
63Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.75488467
64Ribosome_Homo sapiens_hsa030100.72319710
65Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.68505223
66Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.67766912
67Circadian rhythm_Homo sapiens_hsa047100.67018980
68Histidine metabolism_Homo sapiens_hsa003400.66318630
69Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.65786609
70Sulfur metabolism_Homo sapiens_hsa009200.64850617
71Ovarian steroidogenesis_Homo sapiens_hsa049130.63488500
72Cocaine addiction_Homo sapiens_hsa050300.63290427
73Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.63138713
74beta-Alanine metabolism_Homo sapiens_hsa004100.61650507
75Fat digestion and absorption_Homo sapiens_hsa049750.61641902
76Calcium signaling pathway_Homo sapiens_hsa040200.60699342
77Metabolic pathways_Homo sapiens_hsa011000.60054735
78Salivary secretion_Homo sapiens_hsa049700.59783497
79Dopaminergic synapse_Homo sapiens_hsa047280.57671295
80Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.54833215
81Primary immunodeficiency_Homo sapiens_hsa053400.50824987
82Cysteine and methionine metabolism_Homo sapiens_hsa002700.49144791
83Pentose and glucuronate interconversions_Homo sapiens_hsa000400.48508071
84Pyrimidine metabolism_Homo sapiens_hsa002400.47411714
85Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.46150106
86Mineral absorption_Homo sapiens_hsa049780.45974520
87Sulfur relay system_Homo sapiens_hsa041220.45157300
88Nucleotide excision repair_Homo sapiens_hsa034200.44609006
89Long-term depression_Homo sapiens_hsa047300.42224059
90Hippo signaling pathway_Homo sapiens_hsa043900.40656279
91Vascular smooth muscle contraction_Homo sapiens_hsa042700.37349805
92Amphetamine addiction_Homo sapiens_hsa050310.37247628
93Dorso-ventral axis formation_Homo sapiens_hsa043200.35043176
94Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.33736018
95Asthma_Homo sapiens_hsa053100.33709468
96Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.33523996
97Axon guidance_Homo sapiens_hsa043600.32906900
98cAMP signaling pathway_Homo sapiens_hsa040240.32420206
99Collecting duct acid secretion_Homo sapiens_hsa049660.31996138
100Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.31591607

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