C8ORF37

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 ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pigment epithelial cells. Mutations in this gene have been associated with autosomal recessive cone-rod dystrophy (arCRD) and retinitis pigmentosa (arRP). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)5.30329496
2behavioral response to nicotine (GO:0035095)4.77554230
3epithelial cilium movement (GO:0003351)4.40015711
4axoneme assembly (GO:0035082)4.26867380
5negative regulation of telomere maintenance (GO:0032205)4.06379203
6cilium movement (GO:0003341)3.96932696
7L-fucose catabolic process (GO:0042355)3.79931039
8fucose catabolic process (GO:0019317)3.79931039
9L-fucose metabolic process (GO:0042354)3.79931039
10detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.73600252
11response to pheromone (GO:0019236)3.68507618
12platelet dense granule organization (GO:0060155)3.66913980
13cellular ketone body metabolic process (GO:0046950)3.41744847
14indole-containing compound catabolic process (GO:0042436)3.40263767
15indolalkylamine catabolic process (GO:0046218)3.40263767
16tryptophan catabolic process (GO:0006569)3.40263767
17axonemal dynein complex assembly (GO:0070286)3.39899186
18cilium or flagellum-dependent cell motility (GO:0001539)3.39635277
19piRNA metabolic process (GO:0034587)3.37662711
20intraciliary transport (GO:0042073)3.33528678
21water-soluble vitamin biosynthetic process (GO:0042364)3.32936860
22indolalkylamine metabolic process (GO:0006586)3.31315222
23regulation of cilium movement (GO:0003352)3.30420127
24cilium morphogenesis (GO:0060271)3.28186397
25DNA deamination (GO:0045006)3.27018893
26neural tube formation (GO:0001841)3.19960083
27mitochondrial respiratory chain complex I assembly (GO:0032981)3.19289135
28NADH dehydrogenase complex assembly (GO:0010257)3.19289135
29mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.19289135
30cilium organization (GO:0044782)3.17562054
31tryptophan metabolic process (GO:0006568)3.16043999
32protein polyglutamylation (GO:0018095)3.13027517
33protein complex biogenesis (GO:0070271)3.08430105
34ketone body metabolic process (GO:1902224)3.08180195
35cilium assembly (GO:0042384)3.07608064
36nonmotile primary cilium assembly (GO:0035058)3.04692222
37glycerophospholipid catabolic process (GO:0046475)3.04404264
38kynurenine metabolic process (GO:0070189)3.03689166
39kidney morphogenesis (GO:0060993)3.02441547
40alanine transport (GO:0032328)3.01398196
41protein localization to cilium (GO:0061512)2.93972858
42respiratory chain complex IV assembly (GO:0008535)2.86108266
43mitochondrial respiratory chain complex assembly (GO:0033108)2.84978828
44protein-cofactor linkage (GO:0018065)2.79741764
45L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.79348995
46protein neddylation (GO:0045116)2.78794265
47maturation of 5.8S rRNA (GO:0000460)2.78217670
48proline transport (GO:0015824)2.75375119
49regulation of telomere maintenance (GO:0032204)2.74882972
50indole-containing compound metabolic process (GO:0042430)2.72758886
51ubiquinone biosynthetic process (GO:0006744)2.69458324
52photoreceptor cell maintenance (GO:0045494)2.69167094
53L-methionine salvage (GO:0071267)2.69068726
54L-methionine biosynthetic process (GO:0071265)2.69068726
55amino acid salvage (GO:0043102)2.69068726
56preassembly of GPI anchor in ER membrane (GO:0016254)2.68261098
57mannosylation (GO:0097502)2.65570384
58ubiquinone metabolic process (GO:0006743)2.65501525
59mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.62873933
60negative regulation of cytosolic calcium ion concentration (GO:0051481)2.61969576
61synapsis (GO:0007129)2.59720655
62anterograde synaptic vesicle transport (GO:0048490)2.59441925
63primary amino compound metabolic process (GO:1901160)2.59038840
64S-adenosylmethionine metabolic process (GO:0046500)2.56747402
65DNA methylation involved in gamete generation (GO:0043046)2.56578937
66detection of light stimulus involved in sensory perception (GO:0050962)2.56455573
67detection of light stimulus involved in visual perception (GO:0050908)2.56455573
68neuronal action potential (GO:0019228)2.54872035
69negative regulation of transcription regulatory region DNA binding (GO:2000678)2.54307092
70hindbrain development (GO:0030902)2.54202244
71male meiosis (GO:0007140)2.53335925
72rRNA catabolic process (GO:0016075)2.53190475
73replication fork processing (GO:0031297)2.51892842
74cytochrome complex assembly (GO:0017004)2.49050949
75establishment of protein localization to mitochondrial membrane (GO:0090151)2.47784539
76protein K11-linked deubiquitination (GO:0035871)2.47369283
77negative regulation of mast cell activation (GO:0033004)2.45243201
78protein K6-linked ubiquitination (GO:0085020)2.45206306
79resolution of meiotic recombination intermediates (GO:0000712)2.44800698
80DNA double-strand break processing (GO:0000729)2.42277014
81smoothened signaling pathway (GO:0007224)2.42092261
82nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.40033945
83tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.39886703
84RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.39886703
85regulation of nuclear cell cycle DNA replication (GO:0033262)2.39789974
86behavioral response to ethanol (GO:0048149)2.39701768
87somite development (GO:0061053)2.39286346
88male meiosis I (GO:0007141)2.38962294
89serotonin metabolic process (GO:0042428)2.38791794
90sperm motility (GO:0030317)2.37728193
91determination of left/right symmetry (GO:0007368)2.37512685
92RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.37297549
93regulation of hexokinase activity (GO:1903299)2.37153701
94regulation of glucokinase activity (GO:0033131)2.37153701
95regulation of microtubule-based movement (GO:0060632)2.35901767
96reciprocal meiotic recombination (GO:0007131)2.35744510
97reciprocal DNA recombination (GO:0035825)2.35744510
98negative regulation of heart rate (GO:0010459)2.33828309
99reflex (GO:0060004)2.33710487
100cellular component assembly involved in morphogenesis (GO:0010927)2.33120520

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ZNF274_21170338_ChIP-Seq_K562_Hela3.71812291
2VDR_22108803_ChIP-Seq_LS180_Human3.30851294
3GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.82544254
4GBX2_23144817_ChIP-Seq_PC3_Human2.70522740
5POU3F2_20337985_ChIP-ChIP_501MEL_Human2.70436609
6ZFP57_27257070_Chip-Seq_ESCs_Mouse2.58759314
7TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.43930120
8TAF15_26573619_Chip-Seq_HEK293_Human2.39920196
9HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.36353088
10FUS_26573619_Chip-Seq_HEK293_Human2.34769953
11IGF1R_20145208_ChIP-Seq_DFB_Human2.33801635
12FLI1_27457419_Chip-Seq_LIVER_Mouse2.30920996
13HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.30735293
14EWS_26573619_Chip-Seq_HEK293_Human2.26194334
15GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.20494190
16* CTBP2_25329375_ChIP-Seq_LNCAP_Human2.08541775
17CTBP1_25329375_ChIP-Seq_LNCAP_Human2.08111536
18EZH2_22144423_ChIP-Seq_EOC_Human2.06319284
19GABP_17652178_ChIP-ChIP_JURKAT_Human2.01612669
20KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.01069378
21* P300_19829295_ChIP-Seq_ESCs_Human1.96879846
22E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.90770026
23SALL1_21062744_ChIP-ChIP_HESCs_Human1.86196304
24ER_23166858_ChIP-Seq_MCF-7_Human1.86168810
25PCGF2_27294783_Chip-Seq_ESCs_Mouse1.83398866
26CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.79671995
27EST1_17652178_ChIP-ChIP_JURKAT_Human1.78557737
28ELK1_19687146_ChIP-ChIP_HELA_Human1.71617071
29IRF1_19129219_ChIP-ChIP_H3396_Human1.70221853
30EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.69819395
31NOTCH1_21737748_ChIP-Seq_TLL_Human1.68549097
32* MYC_18940864_ChIP-ChIP_HL60_Human1.67207989
33MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.66962257
34AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.63954897
35TP53_22573176_ChIP-Seq_HFKS_Human1.60310307
36MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.58040054
37UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.55234724
38CBP_20019798_ChIP-Seq_JUKART_Human1.50832368
39IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.50832368
40MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.47444088
41* AR_25329375_ChIP-Seq_VCAP_Human1.45651974
42BCAT_22108803_ChIP-Seq_LS180_Human1.45239707
43SMAD4_21799915_ChIP-Seq_A2780_Human1.44141553
44STAT3_23295773_ChIP-Seq_U87_Human1.43536993
45FOXA1_25329375_ChIP-Seq_VCAP_Human1.42394051
46FOXA1_27270436_Chip-Seq_PROSTATE_Human1.42394051
47VDR_23849224_ChIP-Seq_CD4+_Human1.41762834
48CBX2_27304074_Chip-Seq_ESCs_Mouse1.41480163
49* PIAS1_25552417_ChIP-Seq_VCAP_Human1.41215302
50NR3C1_21868756_ChIP-Seq_MCF10A_Human1.40662375
51SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.37760453
52SOX2_19829295_ChIP-Seq_ESCs_Human1.35767963
53NANOG_19829295_ChIP-Seq_ESCs_Human1.35767963
54PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.35727823
55* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.35700437
56* TCF4_22108803_ChIP-Seq_LS180_Human1.34115757
57NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.33788639
58GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.32746743
59* SMAD3_21741376_ChIP-Seq_EPCs_Human1.31932801
60SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.31577566
61TOP2B_26459242_ChIP-Seq_MCF-7_Human1.31003057
62FOXA1_21572438_ChIP-Seq_LNCaP_Human1.29703165
63BMI1_23680149_ChIP-Seq_NPCS_Mouse1.29598393
64PCGF2_27294783_Chip-Seq_NPCs_Mouse1.29391821
65SUZ12_27294783_Chip-Seq_NPCs_Mouse1.29025939
66EZH2_27294783_Chip-Seq_NPCs_Mouse1.28344083
67RUNX2_22187159_ChIP-Seq_PCA_Human1.27135433
68RNF2_27304074_Chip-Seq_NSC_Mouse1.25797053
69TCF4_23295773_ChIP-Seq_U87_Human1.25602530
70KLF5_20875108_ChIP-Seq_MESCs_Mouse1.24662376
71NFE2_27457419_Chip-Seq_LIVER_Mouse1.23550415
72AR_20517297_ChIP-Seq_VCAP_Human1.22993070
73FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.20687343
74ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.20541222
75POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.19246956
76TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.19246956
77OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.18044601
78RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.14063297
79TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.11529825
80NANOG_18555785_Chip-Seq_ESCs_Mouse1.11020469
81AUTS2_25519132_ChIP-Seq_293T-REX_Human1.10091205
82* GATA3_21878914_ChIP-Seq_MCF-7_Human1.09953384
83EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.08467550
84HOXB7_26014856_ChIP-Seq_BT474_Human1.08125424
85NCOR_22424771_ChIP-Seq_293T_Human1.06954852
86SMAD4_21741376_ChIP-Seq_EPCs_Human1.06557248
87P53_22387025_ChIP-Seq_ESCs_Mouse1.04758013
88FLI1_21867929_ChIP-Seq_TH2_Mouse1.02640742
89* PADI4_21655091_ChIP-ChIP_MCF-7_Human1.01625092
90TAL1_26923725_Chip-Seq_HPCs_Mouse1.01390483
91POU5F1_16153702_ChIP-ChIP_HESCs_Human1.01338555
92REST_21632747_ChIP-Seq_MESCs_Mouse1.00927597
93ETV2_25802403_ChIP-Seq_MESCs_Mouse1.00522028
94PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.00189327
95CRX_20693478_ChIP-Seq_RETINA_Mouse1.00062516
96PRDM14_20953172_ChIP-Seq_ESCs_Human0.99601572
97CDX2_22108803_ChIP-Seq_LS180_Human0.99573523
98CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.99446851
99CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.98689510
100HTT_18923047_ChIP-ChIP_STHdh_Human0.95558072

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008877_abnormal_DNA_methylation3.53252927
2MP0002102_abnormal_ear_morphology3.27153708
3MP0003136_yellow_coat_color2.93046384
4MP0003195_calcinosis2.84509795
5MP0006072_abnormal_retinal_apoptosis2.49937896
6MP0000372_irregular_coat_pigmentation2.31400761
7MP0001968_abnormal_touch/_nociception2.28167122
8MP0003787_abnormal_imprinting2.25232689
9MP0006292_abnormal_olfactory_placode2.15862474
10MP0002736_abnormal_nociception_after2.15474236
11MP0004133_heterotaxia2.15021703
12MP0005551_abnormal_eye_electrophysiolog2.11066867
13MP0005253_abnormal_eye_physiology1.96909215
14MP0000569_abnormal_digit_pigmentation1.95385748
15MP0008875_abnormal_xenobiotic_pharmacok1.92221944
16MP0009046_muscle_twitch1.89874371
17MP0003880_abnormal_central_pattern1.87574845
18MP0000427_abnormal_hair_cycle1.77534796
19MP0004147_increased_porphyrin_level1.77103503
20MP0001986_abnormal_taste_sensitivity1.74708665
21MP0001485_abnormal_pinna_reflex1.74640833
22MP0002837_dystrophic_cardiac_calcinosis1.74224251
23MP0008872_abnormal_physiological_respon1.73966984
24MP0009745_abnormal_behavioral_response1.71348331
25MP0005645_abnormal_hypothalamus_physiol1.69773853
26MP0003011_delayed_dark_adaptation1.68518994
27MP0002938_white_spotting1.65378948
28MP0002638_abnormal_pupillary_reflex1.64477872
29MP0005171_absent_coat_pigmentation1.59098237
30MP0002653_abnormal_ependyma_morphology1.54219055
31MP0001984_abnormal_olfaction1.53352990
32MP0000631_abnormal_neuroendocrine_gland1.51958154
33MP0006276_abnormal_autonomic_nervous1.49626528
34MP0009697_abnormal_copulation1.45914177
35MP0002876_abnormal_thyroid_physiology1.43730776
36MP0004142_abnormal_muscle_tone1.41701473
37MP0002272_abnormal_nervous_system1.39118988
38MP0002163_abnormal_gland_morphology1.36864678
39MP0001486_abnormal_startle_reflex1.35876389
40MP0010386_abnormal_urinary_bladder1.33420548
41MP0001529_abnormal_vocalization1.31484950
42MP0000647_abnormal_sebaceous_gland1.30498333
43MP0005379_endocrine/exocrine_gland_phen1.27864603
44MP0004742_abnormal_vestibular_system1.27383474
45MP0005389_reproductive_system_phenotype1.26403285
46MP0003718_maternal_effect1.24361110
47MP0002735_abnormal_chemical_nociception1.24220898
48MP0004145_abnormal_muscle_electrophysio1.23491737
49MP0003121_genomic_imprinting1.22326666
50MP0005646_abnormal_pituitary_gland1.21861888
51MP0003283_abnormal_digestive_organ1.21267796
52MP0002928_abnormal_bile_duct1.21174880
53MP0000383_abnormal_hair_follicle1.19512033
54MP0004885_abnormal_endolymph1.18542663
55MP0001919_abnormal_reproductive_system1.18116483
56MP0003878_abnormal_ear_physiology1.17208821
57MP0005377_hearing/vestibular/ear_phenot1.17208821
58MP0002160_abnormal_reproductive_system1.16639576
59MP0004043_abnormal_pH_regulation1.14397827
60MP0008789_abnormal_olfactory_epithelium1.13704117
61MP0005195_abnormal_posterior_eye1.13580986
62MP0005187_abnormal_penis_morphology1.13236225
63MP0008058_abnormal_DNA_repair1.13215726
64MP0002557_abnormal_social/conspecific_i1.12859263
65MP0001293_anophthalmia1.11225967
66MP0005075_abnormal_melanosome_morpholog1.09461295
67MP0003890_abnormal_embryonic-extraembry1.09390912
68MP0000778_abnormal_nervous_system1.08656869
69MP0002067_abnormal_sensory_capabilities1.05950008
70MP0002572_abnormal_emotion/affect_behav1.05062366
71MP0003122_maternal_imprinting1.03398477
72MP0003646_muscle_fatigue1.02711538
73MP0001501_abnormal_sleep_pattern1.01565110
74MP0002064_seizures0.99207464
75MP0005391_vision/eye_phenotype0.97331266
76MP0001970_abnormal_pain_threshold0.96178382
77MP0001929_abnormal_gametogenesis0.95813566
78MP0002095_abnormal_skin_pigmentation0.94527010
79MP0008995_early_reproductive_senescence0.93894220
80MP0004215_abnormal_myocardial_fiber0.93744463
81MP0002909_abnormal_adrenal_gland0.92253780
82MP0002210_abnormal_sex_determination0.92238722
83MP0001905_abnormal_dopamine_level0.91033582
84MP0005220_abnormal_exocrine_pancreas0.90748777
85MP0005084_abnormal_gallbladder_morpholo0.90604174
86MP0002751_abnormal_autonomic_nervous0.90305612
87MP0002734_abnormal_mechanical_nocicepti0.90169773
88MP0003937_abnormal_limbs/digits/tail_de0.88780822
89MP0003698_abnormal_male_reproductive0.88622070
90MP0001324_abnormal_eye_pigmentation0.88475503
91MP0002234_abnormal_pharynx_morphology0.87501352
92MP0002733_abnormal_thermal_nociception0.86846978
93MP0000026_abnormal_inner_ear0.86723727
94MP0005174_abnormal_tail_pigmentation0.86579828
95MP0002063_abnormal_learning/memory/cond0.85812899
96MP0005410_abnormal_fertilization0.83571419
97MP0004924_abnormal_behavior0.83115504
98MP0005386_behavior/neurological_phenoty0.83115504
99MP0002752_abnormal_somatic_nervous0.82399447
100MP0002693_abnormal_pancreas_physiology0.80984547

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)4.45414628
2Pancreatic fibrosis (HP:0100732)4.30884252
3Molar tooth sign on MRI (HP:0002419)4.18394830
4Abnormality of midbrain morphology (HP:0002418)4.18394830
5True hermaphroditism (HP:0010459)4.06260349
6Nephronophthisis (HP:0000090)3.84696413
7Congenital stationary night blindness (HP:0007642)3.63529180
8Abnormality of the renal medulla (HP:0100957)3.43752050
9Absent/shortened dynein arms (HP:0200106)3.31363088
10Dynein arm defect of respiratory motile cilia (HP:0012255)3.31363088
11Abnormality of the renal cortex (HP:0011035)3.16775581
12Medial flaring of the eyebrow (HP:0010747)3.10952407
13Abnormal respiratory motile cilium morphology (HP:0005938)3.02467634
14Abnormal respiratory epithelium morphology (HP:0012253)3.02467634
15Tubular atrophy (HP:0000092)2.98221189
16Type II lissencephaly (HP:0007260)2.93683124
17Large for gestational age (HP:0001520)2.84099439
18Cystic liver disease (HP:0006706)2.83546244
19Chronic hepatic failure (HP:0100626)2.76706805
20Abnormal ciliary motility (HP:0012262)2.72840310
21Abnormality of alanine metabolism (HP:0010916)2.72441741
22Hyperalaninemia (HP:0003348)2.72441741
23Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.72441741
24Hypothermia (HP:0002045)2.68907942
25Hyperventilation (HP:0002883)2.66725700
26Abolished electroretinogram (ERG) (HP:0000550)2.59917226
27Sclerocornea (HP:0000647)2.49289476
28Gait imbalance (HP:0002141)2.49024041
29Abnormal biliary tract physiology (HP:0012439)2.48792156
30Bile duct proliferation (HP:0001408)2.48792156
31Inability to walk (HP:0002540)2.47765728
32Congenital, generalized hypertrichosis (HP:0004540)2.44610535
33Abnormal respiratory motile cilium physiology (HP:0012261)2.42155484
34Abnormal drinking behavior (HP:0030082)2.41575075
35Polydipsia (HP:0001959)2.41575075
36Congenital hepatic fibrosis (HP:0002612)2.39974589
37Congenital primary aphakia (HP:0007707)2.39544857
38Attenuation of retinal blood vessels (HP:0007843)2.38845809
39Aplasia/Hypoplasia of the tongue (HP:0010295)2.37799741
40Genetic anticipation (HP:0003743)2.37418582
41Renal cortical cysts (HP:0000803)2.33695080
42Nephrogenic diabetes insipidus (HP:0009806)2.27280174
43Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.25144775
44Postaxial foot polydactyly (HP:0001830)2.23996011
45Pendular nystagmus (HP:0012043)2.23502669
46Mitochondrial inheritance (HP:0001427)2.22570206
47Increased CSF lactate (HP:0002490)2.21982280
48Supernumerary spleens (HP:0009799)2.19009226
49Progressive cerebellar ataxia (HP:0002073)2.17147011
50Male pseudohermaphroditism (HP:0000037)2.16262714
51Furrowed tongue (HP:0000221)2.15008781
52Decreased central vision (HP:0007663)2.12668272
53Lissencephaly (HP:0001339)2.11801640
54Occipital encephalocele (HP:0002085)2.11692222
55Acute encephalopathy (HP:0006846)2.09151801
56Abnormality of the labia minora (HP:0012880)2.07930624
57Tubulointerstitial nephritis (HP:0001970)2.07742925
58Acute necrotizing encephalopathy (HP:0006965)2.07192350
59Hepatic necrosis (HP:0002605)2.07086427
60Progressive inability to walk (HP:0002505)2.07013323
61Aplasia/Hypoplasia of the uvula (HP:0010293)2.05423925
62Abnormal rod and cone electroretinograms (HP:0008323)2.04132627
63Hepatocellular necrosis (HP:0001404)2.02427499
64Genital tract atresia (HP:0001827)2.01643479
65Rhinitis (HP:0012384)1.99993354
66Anencephaly (HP:0002323)1.99510985
67Retinal dysplasia (HP:0007973)1.97952063
68Optic nerve hypoplasia (HP:0000609)1.96719066
69Aplasia/Hypoplasia of the tibia (HP:0005772)1.96606697
70Aplasia/Hypoplasia of the spleen (HP:0010451)1.96098292
71Methylmalonic acidemia (HP:0002912)1.95126314
72Increased corneal curvature (HP:0100692)1.93997966
73Keratoconus (HP:0000563)1.93997966
74Fair hair (HP:0002286)1.93823271
75Hemiparesis (HP:0001269)1.92607771
763-Methylglutaconic aciduria (HP:0003535)1.91968586
77Ketoacidosis (HP:0001993)1.91287434
78Vaginal atresia (HP:0000148)1.90006663
79Cerebellar dysplasia (HP:0007033)1.88690393
80Progressive macrocephaly (HP:0004481)1.88341176
81Increased hepatocellular lipid droplets (HP:0006565)1.86913377
82Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.84518262
83Postaxial hand polydactyly (HP:0001162)1.83756630
84* Optic disc pallor (HP:0000543)1.81669999
85Aplasia/hypoplasia of the uterus (HP:0008684)1.81578489
86Concave nail (HP:0001598)1.81526292
87Preaxial hand polydactyly (HP:0001177)1.81044881
88Lipid accumulation in hepatocytes (HP:0006561)1.80900699
89Stomach cancer (HP:0012126)1.80304065
90Absent speech (HP:0001344)1.79994778
91Chorioretinal atrophy (HP:0000533)1.78326831
92Tubulointerstitial abnormality (HP:0001969)1.78182888
93Abnormality of the ileum (HP:0001549)1.77819378
94Polyuria (HP:0000103)1.77175533
95Asplenia (HP:0001746)1.74299897
96Meckel diverticulum (HP:0002245)1.74163323
97Broad-based gait (HP:0002136)1.73183195
98Focal motor seizures (HP:0011153)1.72846724
99Increased serum lactate (HP:0002151)1.71925673
100Abnormal mitochondria in muscle tissue (HP:0008316)1.71884830

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK5.15895500
2ZAK2.96060155
3ADRBK22.81266489
4NUAK12.57734741
5BMPR1B2.55009778
6GRK12.45938779
7INSRR2.34049707
8MAP4K22.30436356
9WNK42.27971153
10WNK32.13965807
11TLK12.10096216
12CASK2.09134666
13PNCK2.05168010
14MST41.95224374
15STK391.88120929
16OXSR11.87596616
17TSSK61.86533208
18TXK1.77039864
19MAP3K41.57445982
20MAPK151.53475817
21PLK21.46560696
22PINK11.45882877
23TAOK31.45478167
24VRK11.43527667
25MAPK131.42458960
26ACVR1B1.34085988
27TRIM281.29051782
28CSNK1G21.20330868
29BCR1.14458054
30CSNK1G11.13593170
31MKNK21.11374948
32CSNK1G31.11137402
33MAP2K61.10618892
34ERBB31.10363321
35DYRK21.06825166
36PLK31.05088256
37IRAK11.02946594
38TNIK0.99002793
39MARK10.99001297
40PAK30.96798526
41CSNK1A1L0.96255698
42MAP2K70.95912827
43WEE10.93901410
44PLK40.91236087
45PRKCE0.90841094
46PRKCG0.88707467
47NME10.86840065
48EPHA40.86484423
49DAPK20.85879435
50CDK30.85769059
51PHKG20.80055358
52PHKG10.80055358
53TGFBR10.77292893
54PIK3CA0.76855242
55EIF2AK30.76598395
56AKT30.75416270
57TIE10.74197346
58STK160.71379459
59EPHA30.71141420
60ADRBK10.70562104
61FER0.70419799
62NTRK30.67092049
63FGFR20.65262105
64BCKDK0.65256960
65MKNK10.64217416
66PRKCI0.61741578
67VRK20.58900556
68RPS6KA50.58884576
69NLK0.58773574
70CDK80.57883243
71BRSK20.56970260
72PLK10.56920568
73RPS6KA40.56227718
74PTK2B0.54623014
75STK30.52401453
76PRKCQ0.51976619
77BUB10.50927919
78TEC0.48924088
79STK38L0.48771837
80ATR0.47104523
81MAPKAPK30.46682128
82MAPKAPK50.46072926
83TAF10.45932177
84CAMK2A0.42825373
85CSNK1A10.40421602
86MAP2K20.40146388
87DYRK30.38845226
88OBSCN0.38742192
89PASK0.38278214
90EIF2AK20.36073793
91LIMK10.36034939
92PRKACA0.35099247
93CHEK20.34881654
94CDK190.34284562
95MUSK0.34094763
96CSNK1D0.32371075
97IKBKB0.30219990
98NTRK20.29237474
99KIT0.29062880
100ITK0.28854058

Predicted pathways (KEGG)

RankGene SetZ-score
1Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.31163169
2Butanoate metabolism_Homo sapiens_hsa006503.15681543
3Protein export_Homo sapiens_hsa030602.82873448
4Oxidative phosphorylation_Homo sapiens_hsa001902.65248231
5Maturity onset diabetes of the young_Homo sapiens_hsa049502.59677587
6Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.30038688
7Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.27971427
8Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.26620874
9Phototransduction_Homo sapiens_hsa047442.21597423
10Nitrogen metabolism_Homo sapiens_hsa009102.19011133
11Parkinsons disease_Homo sapiens_hsa050122.14089505
12Linoleic acid metabolism_Homo sapiens_hsa005912.12724658
13Propanoate metabolism_Homo sapiens_hsa006402.07496921
14Basal transcription factors_Homo sapiens_hsa030222.01258909
15Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.98217935
16RNA polymerase_Homo sapiens_hsa030201.88366087
17alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.87951783
18Homologous recombination_Homo sapiens_hsa034401.87595456
19Fanconi anemia pathway_Homo sapiens_hsa034601.81441916
20Ether lipid metabolism_Homo sapiens_hsa005651.71274201
21Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.62051962
22Selenocompound metabolism_Homo sapiens_hsa004501.56173784
23Steroid biosynthesis_Homo sapiens_hsa001001.55628471
24RNA degradation_Homo sapiens_hsa030181.52969947
25Tryptophan metabolism_Homo sapiens_hsa003801.52459370
26Caffeine metabolism_Homo sapiens_hsa002321.48693940
27Huntingtons disease_Homo sapiens_hsa050161.47283498
28Non-homologous end-joining_Homo sapiens_hsa034501.44918187
29Peroxisome_Homo sapiens_hsa041461.42597292
30One carbon pool by folate_Homo sapiens_hsa006701.40357073
31Nicotine addiction_Homo sapiens_hsa050331.39485928
32Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.38778723
33Proteasome_Homo sapiens_hsa030501.36775718
34Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.24434772
35Alzheimers disease_Homo sapiens_hsa050101.22214348
36Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.20150947
37Olfactory transduction_Homo sapiens_hsa047401.19518991
38Primary bile acid biosynthesis_Homo sapiens_hsa001201.15735177
39Cardiac muscle contraction_Homo sapiens_hsa042601.12030188
40Fatty acid elongation_Homo sapiens_hsa000621.10086422
41Nucleotide excision repair_Homo sapiens_hsa034201.06661027
42Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.06626571
43Purine metabolism_Homo sapiens_hsa002300.99663629
44Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.98224681
45Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.97257319
46Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.95906617
47Chemical carcinogenesis_Homo sapiens_hsa052040.94907520
48Mismatch repair_Homo sapiens_hsa034300.93505305
49Sulfur metabolism_Homo sapiens_hsa009200.92103029
50Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.91983556
51Taste transduction_Homo sapiens_hsa047420.90691851
52Collecting duct acid secretion_Homo sapiens_hsa049660.90486279
53ABC transporters_Homo sapiens_hsa020100.90155141
54Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.88092819
55Retinol metabolism_Homo sapiens_hsa008300.83722702
56Steroid hormone biosynthesis_Homo sapiens_hsa001400.83193876
57Pyrimidine metabolism_Homo sapiens_hsa002400.82238163
58beta-Alanine metabolism_Homo sapiens_hsa004100.80871847
59Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.80685720
60Cysteine and methionine metabolism_Homo sapiens_hsa002700.78736063
61Regulation of autophagy_Homo sapiens_hsa041400.78652606
62Insulin secretion_Homo sapiens_hsa049110.78533914
63Morphine addiction_Homo sapiens_hsa050320.76311328
64Arachidonic acid metabolism_Homo sapiens_hsa005900.74178905
65Metabolic pathways_Homo sapiens_hsa011000.74071027
66Sulfur relay system_Homo sapiens_hsa041220.70141279
67Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.65768426
68Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.65188634
69Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.61526582
70Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.60041360
71Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.59690034
72Ovarian steroidogenesis_Homo sapiens_hsa049130.58928809
73Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.58896557
74Serotonergic synapse_Homo sapiens_hsa047260.58878582
75Pentose and glucuronate interconversions_Homo sapiens_hsa000400.58754484
76GABAergic synapse_Homo sapiens_hsa047270.58282115
77Primary immunodeficiency_Homo sapiens_hsa053400.58023396
78Circadian entrainment_Homo sapiens_hsa047130.57835220
79Folate biosynthesis_Homo sapiens_hsa007900.56315774
80Fatty acid metabolism_Homo sapiens_hsa012120.54753712
81Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.53305511
82Basal cell carcinoma_Homo sapiens_hsa052170.52002429
83RNA transport_Homo sapiens_hsa030130.51056276
84Glutamatergic synapse_Homo sapiens_hsa047240.47721043
85Dorso-ventral axis formation_Homo sapiens_hsa043200.44305764
86Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.43741495
87Intestinal immune network for IgA production_Homo sapiens_hsa046720.43412654
88Base excision repair_Homo sapiens_hsa034100.40131835
89Fat digestion and absorption_Homo sapiens_hsa049750.40107500
90Glycerolipid metabolism_Homo sapiens_hsa005610.38171135
91Pyruvate metabolism_Homo sapiens_hsa006200.37630868
92Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.37629809
93Fatty acid biosynthesis_Homo sapiens_hsa000610.36933685
94Circadian rhythm_Homo sapiens_hsa047100.35941771
95Salivary secretion_Homo sapiens_hsa049700.32678768
96Fatty acid degradation_Homo sapiens_hsa000710.32303320
97Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.28093369
98Calcium signaling pathway_Homo sapiens_hsa040200.27827910
99Hedgehog signaling pathway_Homo sapiens_hsa043400.27557088
100Type I diabetes mellitus_Homo sapiens_hsa049400.26961571

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