PSORS1C1

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 is one of several genes thought to confer susceptibility to psoriasis and systemic sclerosis, located on chromosome 6 near the major histocompatibility complex (MHC) class I region. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1keratinization (GO:0031424)6.62014154
2establishment of protein localization to mitochondrial membrane (GO:0090151)4.61703537
3viral transcription (GO:0019083)4.29261122
4positive regulation of gastrulation (GO:2000543)4.29182158
5mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.24273191
6establishment of skin barrier (GO:0061436)4.16151259
7ribosomal small subunit biogenesis (GO:0042274)4.16017769
8translational termination (GO:0006415)4.12721145
9hair cycle (GO:0042633)4.04827903
10molting cycle (GO:0042303)4.04827903
11limb bud formation (GO:0060174)3.85818449
12ribosomal small subunit assembly (GO:0000028)3.85535492
13energy coupled proton transport, down electrochemical gradient (GO:0015985)3.85160691
14ATP synthesis coupled proton transport (GO:0015986)3.85160691
15cellular ketone body metabolic process (GO:0046950)3.81466496
16regulation of microtubule-based movement (GO:0060632)3.80932617
17rRNA modification (GO:0000154)3.80209970
18retinal ganglion cell axon guidance (GO:0031290)3.69077717
19SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.68486612
20cotranslational protein targeting to membrane (GO:0006613)3.66274881
21ketone body metabolic process (GO:1902224)3.58247490
22mannosylation (GO:0097502)3.57693048
23protein targeting to ER (GO:0045047)3.53673105
24urogenital system development (GO:0001655)3.47187889
25ectoderm development (GO:0007398)3.45650573
26translational elongation (GO:0006414)3.44879598
27establishment of protein localization to endoplasmic reticulum (GO:0072599)3.42946754
28otic vesicle formation (GO:0030916)3.39063571
29regulation of water loss via skin (GO:0033561)3.36130314
30lung-associated mesenchyme development (GO:0060484)3.34235531
31ribosomal large subunit biogenesis (GO:0042273)3.29947650
32regulation of cilium movement (GO:0003352)3.29664322
33acrosome reaction (GO:0007340)3.24312872
34protein localization to endoplasmic reticulum (GO:0070972)3.23683009
35cellular protein complex disassembly (GO:0043624)3.23447024
36mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.22306645
37maturation of SSU-rRNA (GO:0030490)3.21576059
38negative regulation of mesenchymal cell apoptotic process (GO:2001054)3.15653885
39kinetochore assembly (GO:0051382)3.12823391
40detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.09157772
41viral life cycle (GO:0019058)3.07964923
42protein-cofactor linkage (GO:0018065)3.05221955
43rRNA methylation (GO:0031167)3.01736577
44pseudouridine synthesis (GO:0001522)2.99742490
45response to pheromone (GO:0019236)2.98368001
46intracellular protein transmembrane import (GO:0044743)2.96372302
47dendritic spine morphogenesis (GO:0060997)2.90556619
48somite rostral/caudal axis specification (GO:0032525)2.88636489
49translational initiation (GO:0006413)2.88073658
50mitochondrial respiratory chain complex I assembly (GO:0032981)2.87193072
51NADH dehydrogenase complex assembly (GO:0010257)2.87193072
52mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.87193072
53fucose catabolic process (GO:0019317)2.85771971
54L-fucose metabolic process (GO:0042354)2.85771971
55L-fucose catabolic process (GO:0042355)2.85771971
56regulation of mesoderm development (GO:2000380)2.83630874
57chromatin remodeling at centromere (GO:0031055)2.81778660
58central nervous system myelination (GO:0022010)2.81471227
59axon ensheathment in central nervous system (GO:0032291)2.81471227
60platelet dense granule organization (GO:0060155)2.80825926
61regulation of cell proliferation involved in kidney development (GO:1901722)2.79265549
62positive regulation of embryonic development (GO:0040019)2.77622043
63nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)2.76275561
64response to nitrosative stress (GO:0051409)2.75745524
65DNA replication checkpoint (GO:0000076)2.75465855
66kinetochore organization (GO:0051383)2.74865886
67negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)2.74532802
68electron transport chain (GO:0022900)2.74531050
69respiratory electron transport chain (GO:0022904)2.70936845
70epidermis development (GO:0008544)2.70885153
71microtubule depolymerization (GO:0007019)2.70058212
72nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.68718183
73protein complex disassembly (GO:0043241)2.67298122
74protein complex biogenesis (GO:0070271)2.65616909
75keratinocyte proliferation (GO:0043616)2.65469062
76regulation of mesenchymal cell apoptotic process (GO:2001053)2.65373526
77positive regulation of glomerulus development (GO:0090193)2.63478896
78neuron fate determination (GO:0048664)2.62755797
79G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.62579365
80protein K6-linked ubiquitination (GO:0085020)2.61798978
81ether lipid metabolic process (GO:0046485)2.60550678
82lateral sprouting from an epithelium (GO:0060601)2.60348626
83centriole replication (GO:0007099)2.59898928
84translation (GO:0006412)2.59309322
85somite development (GO:0061053)2.59177393
86desmosome organization (GO:0002934)2.59113200
87behavioral response to nicotine (GO:0035095)2.57434128
88cornea development in camera-type eye (GO:0061303)2.54847212
89keratinocyte differentiation (GO:0030216)2.52428784
90fucosylation (GO:0036065)2.52172147
91exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.51629775
92positive regulation of oligodendrocyte differentiation (GO:0048714)2.49493772
93macromolecular complex disassembly (GO:0032984)2.49181648
94sister chromatid segregation (GO:0000819)2.49004928
95phosphatidylinositol acyl-chain remodeling (GO:0036149)2.48013852
96establishment of tissue polarity (GO:0007164)2.47077073
97establishment of planar polarity (GO:0001736)2.47077073
98CENP-A containing nucleosome assembly (GO:0034080)2.44132037
99replication fork processing (GO:0031297)2.42936580
100cerebral cortex radially oriented cell migration (GO:0021799)2.42756314

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GABP_17652178_ChIP-ChIP_JURKAT_Human2.95427661
2E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.72344338
3TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.70982132
4KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.70663419
5FUS_26573619_Chip-Seq_HEK293_Human2.65205902
6SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.63377081
7ZNF274_21170338_ChIP-Seq_K562_Hela2.50001786
8EST1_17652178_ChIP-ChIP_JURKAT_Human2.49601924
9HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.48462132
10EWS_26573619_Chip-Seq_HEK293_Human2.32035788
11ELK1_19687146_ChIP-ChIP_HELA_Human2.26435183
12VDR_22108803_ChIP-Seq_LS180_Human2.02140352
13FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.97426063
14ZFP57_27257070_Chip-Seq_ESCs_Mouse1.96925582
15POU3F2_20337985_ChIP-ChIP_501MEL_Human1.90006815
16TP63_17297297_ChIP-ChIP_HaCaT_Human1.89786349
17CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.89046308
18PCGF2_27294783_Chip-Seq_NPCs_Mouse1.87118163
19CTBP1_25329375_ChIP-Seq_LNCAP_Human1.82927130
20CTBP2_25329375_ChIP-Seq_LNCAP_Human1.80567191
21MYC_18940864_ChIP-ChIP_HL60_Human1.75493511
22TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.74517532
23SALL1_21062744_ChIP-ChIP_HESCs_Human1.72627106
24GBX2_23144817_ChIP-Seq_PC3_Human1.72451687
25CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.70544226
26P300_19829295_ChIP-Seq_ESCs_Human1.67901314
27FOXM1_23109430_ChIP-Seq_U2OS_Human1.57674638
28ER_23166858_ChIP-Seq_MCF-7_Human1.53675805
29SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.47008266
30MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.47006304
31CBX2_27304074_Chip-Seq_ESCs_Mouse1.46574068
32PCGF2_27294783_Chip-Seq_ESCs_Mouse1.46075851
33ETS1_20019798_ChIP-Seq_JURKAT_Human1.43466804
34GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.43143328
35ELK1_22589737_ChIP-Seq_MCF10A_Human1.40776159
36E2F4_17652178_ChIP-ChIP_JURKAT_Human1.38695901
37HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.36509495
38AR_25329375_ChIP-Seq_VCAP_Human1.35764399
39AUTS2_25519132_ChIP-Seq_293T-REX_Human1.35375003
40JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.32578786
41TP53_18474530_ChIP-ChIP_U2OS_Human1.31615027
42SMAD3_21741376_ChIP-Seq_EPCs_Human1.30680112
43PADI4_21655091_ChIP-ChIP_MCF-7_Human1.28989259
44BCAT_22108803_ChIP-Seq_LS180_Human1.25770445
45IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.25458898
46CBP_20019798_ChIP-Seq_JUKART_Human1.25458898
47CJUN_26792858_Chip-Seq_BT549_Human1.25451051
48HIF1A_21447827_ChIP-Seq_MCF-7_Human1.25049236
49TP53_22573176_ChIP-Seq_HFKS_Human1.24739883
50EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.24323543
51IGF1R_20145208_ChIP-Seq_DFB_Human1.22923056
52MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.21763258
53TAF15_26573619_Chip-Seq_HEK293_Human1.20927513
54FLI1_27457419_Chip-Seq_LIVER_Mouse1.19479900
55TCF4_22108803_ChIP-Seq_LS180_Human1.19029849
56RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.17063346
57TTF2_22483619_ChIP-Seq_HELA_Human1.16203016
58NR3C1_21868756_ChIP-Seq_MCF10A_Human1.15931322
59CREB1_15753290_ChIP-ChIP_HEK293T_Human1.14881961
60VDR_23849224_ChIP-Seq_CD4+_Human1.14052096
61FOXM1_26456572_ChIP-Seq_MCF-7_Human1.12457351
62ERG_20517297_ChIP-Seq_VCAP_Human1.12068887
63LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.10546680
64MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.10526368
65SUZ12_27294783_Chip-Seq_NPCs_Mouse1.08709664
66CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.08273692
67PIAS1_25552417_ChIP-Seq_VCAP_Human1.08271678
68AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.07359219
69CDX2_22108803_ChIP-Seq_LS180_Human1.07299018
70HOXB7_26014856_ChIP-Seq_BT474_Human1.06884772
71UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.06875747
72GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.06264231
73SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.06074082
74NFE2_27457419_Chip-Seq_LIVER_Mouse1.05273778
75MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.04764667
76NOTCH1_21737748_ChIP-Seq_TLL_Human1.03304081
77TP63_19390658_ChIP-ChIP_HaCaT_Human1.02302692
78BMI1_23680149_ChIP-Seq_NPCS_Mouse1.01889304
79KLF5_20875108_ChIP-Seq_MESCs_Mouse1.00716660
80SMAD4_21799915_ChIP-Seq_A2780_Human1.00699557
81IRF1_19129219_ChIP-ChIP_H3396_Human1.00344660
82GATA3_21878914_ChIP-Seq_MCF-7_Human0.98449409
83FOXA1_25329375_ChIP-Seq_VCAP_Human0.98059752
84FOXA1_27270436_Chip-Seq_PROSTATE_Human0.98059752
85KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.97690590
86EED_16625203_ChIP-ChIP_MESCs_Mouse0.97113559
87NANOG_18555785_Chip-Seq_ESCs_Mouse0.96965813
88EZH2_27294783_Chip-Seq_NPCs_Mouse0.96123120
89NCOR_22424771_ChIP-Seq_293T_Human0.94960508
90CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.94673818
91TDRD3_21172665_ChIP-Seq_MCF-7_Human0.92567134
92ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.92518651
93TOP2B_26459242_ChIP-Seq_MCF-7_Human0.92366143
94AR_20517297_ChIP-Seq_VCAP_Human0.91467843
95NANOG_19829295_ChIP-Seq_ESCs_Human0.91253414
96SOX2_19829295_ChIP-Seq_ESCs_Human0.91253414
97TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.90376833
98FOXP3_21729870_ChIP-Seq_TREG_Human0.90079802
99RBPJ_22232070_ChIP-Seq_NCS_Mouse0.89948385
100RUNX2_22187159_ChIP-Seq_PCA_Human0.89452411

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000566_synostosis3.78214224
2MP0002796_impaired_skin_barrier3.03143684
3MP0002102_abnormal_ear_morphology2.92904266
4MP0003136_yellow_coat_color2.91615518
5MP0009379_abnormal_foot_pigmentation2.85898951
6MP0002234_abnormal_pharynx_morphology2.77017728
7MP0005275_abnormal_skin_tensile2.71727525
8MP0003283_abnormal_digestive_organ2.58911606
9MP0000383_abnormal_hair_follicle2.50464417
10MP0010030_abnormal_orbit_morphology2.48478718
11MP0006072_abnormal_retinal_apoptosis2.41478311
12MP0000427_abnormal_hair_cycle2.39262074
13MP0000579_abnormal_nail_morphology2.21136091
14MP0003950_abnormal_plasma_membrane2.12323045
15MP0010678_abnormal_skin_adnexa2.11472547
16MP0000647_abnormal_sebaceous_gland2.11381237
17MP0002282_abnormal_trachea_morphology2.08530149
18MP0008789_abnormal_olfactory_epithelium2.01988466
19MP0000049_abnormal_middle_ear1.98386285
20MP0004885_abnormal_endolymph1.95962265
21MP0005501_abnormal_skin_physiology1.88243357
22MP0000537_abnormal_urethra_morphology1.87462352
23MP0003941_abnormal_skin_development1.85992339
24MP0003890_abnormal_embryonic-extraembry1.83691454
25MP0005551_abnormal_eye_electrophysiolog1.71068533
26MP0000762_abnormal_tongue_morphology1.66596565
27MP0005253_abnormal_eye_physiology1.64173394
28MP0002098_abnormal_vibrissa_morphology1.63593109
29MP0002938_white_spotting1.63497435
30MP0009053_abnormal_anal_canal1.63412563
31MP0002095_abnormal_skin_pigmentation1.51215160
32MP0004742_abnormal_vestibular_system1.49655859
33MP0001485_abnormal_pinna_reflex1.47204541
34MP0003755_abnormal_palate_morphology1.45047970
35MP0010771_integument_phenotype1.44856145
36MP0005499_abnormal_olfactory_system1.40162282
37MP0005394_taste/olfaction_phenotype1.40162282
38MP0003718_maternal_effect1.38059665
39MP0001299_abnormal_eye_distance/1.36816478
40MP0008058_abnormal_DNA_repair1.36162886
41MP0003119_abnormal_digestive_system1.32330364
42MP0004133_heterotaxia1.31110560
43MP0006292_abnormal_olfactory_placode1.27690215
44MP0001216_abnormal_epidermal_layer1.26220872
45MP0003878_abnormal_ear_physiology1.22677897
46MP0005377_hearing/vestibular/ear_phenot1.22677897
47MP0000026_abnormal_inner_ear1.20305561
48MP0005174_abnormal_tail_pigmentation1.18815923
49MP0010234_abnormal_vibrissa_follicle1.18547556
50MP0005503_abnormal_tendon_morphology1.15538110
51MP0003937_abnormal_limbs/digits/tail_de1.14547186
52MP0002653_abnormal_ependyma_morphology1.14235981
53MP0004142_abnormal_muscle_tone1.14013307
54MP0003011_delayed_dark_adaptation1.12224583
55MP0001984_abnormal_olfaction1.07958962
56MP0009780_abnormal_chondrocyte_physiolo1.07494380
57MP0002111_abnormal_tail_morphology1.04837348
58MP0000377_abnormal_hair_follicle1.03290736
59MP0002233_abnormal_nose_morphology1.02843801
60MP0010094_abnormal_chromosome_stability1.02098715
61MP0003315_abnormal_perineum_morphology1.00547882
62MP0008875_abnormal_xenobiotic_pharmacok0.99735020
63MP0002060_abnormal_skin_morphology0.99038547
64MP0003806_abnormal_nucleotide_metabolis0.98775562
65MP0000778_abnormal_nervous_system0.98651157
66MP0010386_abnormal_urinary_bladder0.98434108
67MP0005391_vision/eye_phenotype0.97032182
68MP0000631_abnormal_neuroendocrine_gland0.96351231
69MP0005195_abnormal_posterior_eye0.95744060
70MP0005171_absent_coat_pigmentation0.91995968
71MP0002697_abnormal_eye_size0.91958930
72MP0009250_abnormal_appendicular_skeleto0.90831065
73MP0001529_abnormal_vocalization0.89711501
74MP0000569_abnormal_digit_pigmentation0.88841567
75MP0001286_abnormal_eye_development0.88353498
76MP0000613_abnormal_salivary_gland0.87104365
77MP0003186_abnormal_redox_activity0.87032806
78MP0001293_anophthalmia0.87025745
79MP0004272_abnormal_basement_membrane0.86420728
80MP0005360_urolithiasis0.85427643
81MP0004134_abnormal_chest_morphology0.84396202
82MP0001968_abnormal_touch/_nociception0.82658830
83MP0002277_abnormal_respiratory_mucosa0.82457041
84MP0002210_abnormal_sex_determination0.82000529
85MP0003195_calcinosis0.81960837
86MP0003567_abnormal_fetal_cardiomyocyte0.78169540
87MP0003935_abnormal_craniofacial_develop0.77628801
88MP0002109_abnormal_limb_morphology0.77323501
89MP0000467_abnormal_esophagus_morphology0.76486759
90MP0002116_abnormal_craniofacial_bone0.75609696
91MP0005508_abnormal_skeleton_morphology0.75330257
92MP0001243_abnormal_dermal_layer0.73524386
93MP0000367_abnormal_coat/_hair0.72833764
94MP0005410_abnormal_fertilization0.70420148
95MP0002751_abnormal_autonomic_nervous0.69549504
96MP0001324_abnormal_eye_pigmentation0.69050669
97MP0005197_abnormal_uvea_morphology0.67058902
98MP0001929_abnormal_gametogenesis0.66715587
99MP0001905_abnormal_dopamine_level0.65891482
100MP0002736_abnormal_nociception_after0.64514319

Predicted human phenotypes

RankGene SetZ-score
1Duplicated collecting system (HP:0000081)4.28285692
2Reticulocytopenia (HP:0001896)4.24554997
3Abnormality of the renal collecting system (HP:0004742)3.89175499
4Abnormality of nail color (HP:0100643)3.66781136
5Cerebellar dysplasia (HP:0007033)3.56127162
6Congenital, generalized hypertrichosis (HP:0004540)3.44372727
7Type II lissencephaly (HP:0007260)3.39372672
8Woolly hair (HP:0002224)3.36691356
9Retinal dysplasia (HP:0007973)3.31577987
10Oral leukoplakia (HP:0002745)3.25774807
11Abnormal number of erythroid precursors (HP:0012131)3.07061077
12Fragile nails (HP:0001808)2.91923962
13True hermaphroditism (HP:0010459)2.88583563
14Abnormality of cells of the erythroid lineage (HP:0012130)2.85198685
15Abnormality of midbrain morphology (HP:0002418)2.82816719
16Molar tooth sign on MRI (HP:0002419)2.82816719
17Pancreatic cysts (HP:0001737)2.76091810
18Congenital ichthyosiform erythroderma (HP:0007431)2.69464034
19Palmoplantar hyperkeratosis (HP:0000972)2.65674965
20Palmar hyperkeratosis (HP:0010765)2.63314462
21Parakeratosis (HP:0001036)2.60576765
22Acute necrotizing encephalopathy (HP:0006965)2.57939538
23Chromosomal breakage induced by crosslinking agents (HP:0003221)2.53338316
24Optic nerve hypoplasia (HP:0000609)2.52455068
25Abnormality of DNA repair (HP:0003254)2.51733088
26Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.49796418
27Furrowed tongue (HP:0000221)2.48492824
28Duplication of thumb phalanx (HP:0009942)2.45949242
29Hypoplasia of the pons (HP:0012110)2.44196657
30Abnormality of the preputium (HP:0100587)2.41323799
31Plantar hyperkeratosis (HP:0007556)2.39910440
32Congenital stationary night blindness (HP:0007642)2.39264935
33Anterior segment dysgenesis (HP:0007700)2.38457977
34Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.33342963
35Chromsome breakage (HP:0040012)2.32500670
36Pancreatic fibrosis (HP:0100732)2.32015818
37Abnormal mitochondria in muscle tissue (HP:0008316)2.30605692
38Absent thumb (HP:0009777)2.27393033
39Mitochondrial inheritance (HP:0001427)2.26568900
40Abnormality of the pons (HP:0007361)2.24226649
41Aplasia/Hypoplasia of the uvula (HP:0010293)2.22406147
42Hypoplastic labia majora (HP:0000059)2.20061329
43Erythroderma (HP:0001019)2.19689238
44Increased hepatocellular lipid droplets (HP:0006565)2.17990186
45Hypoplastic pelvis (HP:0008839)2.17519968
46Acute encephalopathy (HP:0006846)2.17135998
47Onycholysis (HP:0001806)2.15913323
48Hypotrichosis (HP:0001006)2.15002085
49Macrocytic anemia (HP:0001972)2.14453002
50Bilateral microphthalmos (HP:0007633)2.11833238
51Progressive macrocephaly (HP:0004481)2.11212538
52Type I transferrin isoform profile (HP:0003642)2.07175352
53Sclerocornea (HP:0000647)2.06073220
54Abnormality of the labia majora (HP:0012881)2.04273270
55Coronal craniosynostosis (HP:0004440)2.03935853
56Pendular nystagmus (HP:0012043)2.03808077
57Breast hypoplasia (HP:0003187)2.02245216
58Nephronophthisis (HP:0000090)1.99468501
59Abnormal number of incisors (HP:0011064)1.98333928
60Increased CSF lactate (HP:0002490)1.98195755
61Abnormality of secondary sexual hair (HP:0009888)1.97440589
62Abnormality of the axillary hair (HP:0100134)1.97440589
63Triphalangeal thumb (HP:0001199)1.97111655
64Meckel diverticulum (HP:0002245)1.95206618
65Ureteral duplication (HP:0000073)1.94229509
66Chorioretinal atrophy (HP:0000533)1.92664210
67Methylmalonic acidemia (HP:0002912)1.92444166
68Absent speech (HP:0001344)1.91098654
69Lipid accumulation in hepatocytes (HP:0006561)1.91056515
70Sparse eyelashes (HP:0000653)1.89992982
71Abnormality of the ileum (HP:0001549)1.85520116
72Methylmalonic aciduria (HP:0012120)1.84917907
73Renal Fanconi syndrome (HP:0001994)1.83235411
74Neonatal short-limb short stature (HP:0008921)1.82785681
75Septo-optic dysplasia (HP:0100842)1.82471562
76Abnormality of the renal medulla (HP:0100957)1.81813309
77Aplasia involving forearm bones (HP:0009822)1.81732926
78Absent forearm bone (HP:0003953)1.81732926
79Alopecia of scalp (HP:0002293)1.80592657
80Absent radius (HP:0003974)1.80072329
81Renal dysplasia (HP:0000110)1.79873768
82Bulbous nose (HP:0000414)1.79691614
83Hyperglycinemia (HP:0002154)1.79130605
84Reduced antithrombin III activity (HP:0001976)1.78761036
85Occipital encephalocele (HP:0002085)1.78704236
86Anophthalmia (HP:0000528)1.78407826
87Conical tooth (HP:0000698)1.78235104
88Hypoplastic iliac wings (HP:0002866)1.77580124
89Tubular atrophy (HP:0000092)1.77283477
90Preaxial foot polydactyly (HP:0001841)1.76789222
91Clubbing of toes (HP:0100760)1.74860434
92Maternal diabetes (HP:0009800)1.73881631
93Bifid tongue (HP:0010297)1.73515091
94Decreased central vision (HP:0007663)1.73096714
95Sloping forehead (HP:0000340)1.69241287
96Conjunctival hamartoma (HP:0100780)1.69035386
97Duodenal stenosis (HP:0100867)1.68598901
98Small intestinal stenosis (HP:0012848)1.68598901
99Severe muscular hypotonia (HP:0006829)1.68532511
100Abnormal glycosylation (HP:0012345)1.66035471

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PNCK4.42010342
2EPHB24.03354929
3EPHA23.29323189
4BUB13.20890225
5WEE12.99849535
6VRK22.55901963
7BMPR1B2.35689876
8CASK2.34372688
9FRK2.31942135
10MAPK152.21876339
11GRK12.18015849
12WNK32.14721366
13MST42.13338538
14TLK12.11323150
15NUAK11.99203753
16NME11.97678974
17LATS11.96640510
18MST1R1.86868791
19STK31.67406751
20ADRBK21.60491437
21DYRK31.56623188
22ZAK1.53494227
23MET1.41942101
24VRK11.33875733
25TGFBR11.33288862
26NEK21.28392279
27STK391.25643848
28INSRR1.18458493
29ADRBK11.14946482
30BCR1.12237519
31PINK11.10540965
32BRSK21.09156361
33CDC70.96471997
34LIMK10.96468412
35MAPKAPK50.95408477
36NEK10.94046270
37PLK30.93872740
38PRKCG0.93456858
39STK38L0.92830376
40TSSK60.90857005
41CDK80.90773389
42WNK40.89526268
43FGFR10.87897670
44PAK30.86258853
45PRKCI0.84258505
46SIK20.79631877
47PRKCE0.76886982
48MAP2K70.76827990
49PBK0.73898722
50CDK30.73784162
51OXSR10.73620673
52PLK10.72194948
53STK240.70696472
54PDK20.69641481
55FER0.69213633
56MELK0.68908852
57FGFR20.67787934
58WNK10.66638380
59PHKG10.64914875
60PHKG20.64914875
61TAF10.64906984
62TGFBR20.62581849
63MAP3K90.61368552
64LMTK20.58103179
65ERBB40.56150389
66ERBB30.54961017
67MKNK20.53623059
68PTK2B0.52810356
69DYRK20.52789029
70AURKB0.51488037
71EPHA40.51394835
72RPS6KA40.47876172
73NME20.47233825
74ABL20.47106388
75STK160.43375986
76ACVR1B0.43208733
77ATR0.42099715
78PASK0.42049216
79MAP3K40.40648044
80FLT30.40639398
81CSNK1E0.39936471
82KIT0.38956803
83CHEK20.38029423
84MKNK10.36843836
85LRRK20.36121577
86PLK40.35630764
87AURKA0.35110207
88MYLK0.34499184
89ROCK10.33624499
90STK100.32302676
91MAPKAPK30.30531960
92ERBB20.30212038
93CAMK2D0.29787108
94AKT30.29647778
95ATM0.28575888
96TRIM280.28570966
97TNIK0.27496758
98BRSK10.27191226
99BCKDK0.26724938
100CSNK2A20.25374711

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030104.49490403
2Oxidative phosphorylation_Homo sapiens_hsa001903.49837895
3Parkinsons disease_Homo sapiens_hsa050122.84617473
4Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.78889020
5alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.60288490
6Linoleic acid metabolism_Homo sapiens_hsa005912.57521400
7Protein export_Homo sapiens_hsa030602.50294976
8Huntingtons disease_Homo sapiens_hsa050162.43580852
9Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.40110671
10Proteasome_Homo sapiens_hsa030502.30133583
11Alzheimers disease_Homo sapiens_hsa050102.01243989
12RNA polymerase_Homo sapiens_hsa030201.94112592
13Maturity onset diabetes of the young_Homo sapiens_hsa049501.89679199
14Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.77183525
15Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.69536545
16Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.68344684
17Ether lipid metabolism_Homo sapiens_hsa005651.65417533
18Selenocompound metabolism_Homo sapiens_hsa004501.63820181
19Homologous recombination_Homo sapiens_hsa034401.62369650
20Basal transcription factors_Homo sapiens_hsa030221.58332042
21Fanconi anemia pathway_Homo sapiens_hsa034601.53827015
22Basal cell carcinoma_Homo sapiens_hsa052171.53437224
23Cardiac muscle contraction_Homo sapiens_hsa042601.53082156
24Nucleotide excision repair_Homo sapiens_hsa034201.49564957
25Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.46137580
26Propanoate metabolism_Homo sapiens_hsa006401.40211845
27DNA replication_Homo sapiens_hsa030301.39773015
28Phototransduction_Homo sapiens_hsa047441.36241510
29Nitrogen metabolism_Homo sapiens_hsa009101.33066804
30Folate biosynthesis_Homo sapiens_hsa007901.28494740
31Butanoate metabolism_Homo sapiens_hsa006501.26787594
32Regulation of autophagy_Homo sapiens_hsa041401.25407755
33Mismatch repair_Homo sapiens_hsa034301.24284082
34Hedgehog signaling pathway_Homo sapiens_hsa043401.21258105
35Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.20575615
36Pentose and glucuronate interconversions_Homo sapiens_hsa000401.09102628
37Pyrimidine metabolism_Homo sapiens_hsa002401.07698431
38Arachidonic acid metabolism_Homo sapiens_hsa005901.02394458
39Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.01496570
40Taste transduction_Homo sapiens_hsa047420.99730444
41RNA degradation_Homo sapiens_hsa030180.99167506
42p53 signaling pathway_Homo sapiens_hsa041150.97417015
43Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.96889602
44Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.96225749
45Spliceosome_Homo sapiens_hsa030400.94565669
46Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.94373183
47Non-homologous end-joining_Homo sapiens_hsa034500.93414176
48Glutathione metabolism_Homo sapiens_hsa004800.92310224
49Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.89522534
50Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.89329874
51Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.87769413
52Retinol metabolism_Homo sapiens_hsa008300.85601336
53Chemical carcinogenesis_Homo sapiens_hsa052040.82709809
54Caffeine metabolism_Homo sapiens_hsa002320.82110463
55Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.81387704
56One carbon pool by folate_Homo sapiens_hsa006700.80893987
57Peroxisome_Homo sapiens_hsa041460.75605288
58RNA transport_Homo sapiens_hsa030130.75357233
59Hippo signaling pathway_Homo sapiens_hsa043900.74981110
60Steroid hormone biosynthesis_Homo sapiens_hsa001400.73643946
61Pyruvate metabolism_Homo sapiens_hsa006200.73455630
62Tryptophan metabolism_Homo sapiens_hsa003800.73390293
63Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.72097961
64Base excision repair_Homo sapiens_hsa034100.71967757
65Purine metabolism_Homo sapiens_hsa002300.70675899
66TGF-beta signaling pathway_Homo sapiens_hsa043500.70291052
67Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.67910141
68Circadian rhythm_Homo sapiens_hsa047100.67495879
69Metabolic pathways_Homo sapiens_hsa011000.67248822
70Nicotine addiction_Homo sapiens_hsa050330.66691978
71Mineral absorption_Homo sapiens_hsa049780.65678868
72Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.64792015
73Ovarian steroidogenesis_Homo sapiens_hsa049130.64660995
74Cell cycle_Homo sapiens_hsa041100.58173333
75SNARE interactions in vesicular transport_Homo sapiens_hsa041300.57754622
76Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.57164895
77Primary bile acid biosynthesis_Homo sapiens_hsa001200.54029177
78Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.53912051
79Fat digestion and absorption_Homo sapiens_hsa049750.53515723
80Fatty acid elongation_Homo sapiens_hsa000620.51902244
81Glutamatergic synapse_Homo sapiens_hsa047240.50045247
82Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.50010856
83Cysteine and methionine metabolism_Homo sapiens_hsa002700.48240759
84Cocaine addiction_Homo sapiens_hsa050300.46552343
85Arginine and proline metabolism_Homo sapiens_hsa003300.44933521
86ECM-receptor interaction_Homo sapiens_hsa045120.44022167
87beta-Alanine metabolism_Homo sapiens_hsa004100.42972251
88Sulfur metabolism_Homo sapiens_hsa009200.42315499
89ABC transporters_Homo sapiens_hsa020100.41457361
90Histidine metabolism_Homo sapiens_hsa003400.39532546
91Axon guidance_Homo sapiens_hsa043600.39159753
92N-Glycan biosynthesis_Homo sapiens_hsa005100.37458208
93Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.36879512
94Fatty acid degradation_Homo sapiens_hsa000710.35619987
95Olfactory transduction_Homo sapiens_hsa047400.34531631
96Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.33980620
97Serotonergic synapse_Homo sapiens_hsa047260.30226744
98Oocyte meiosis_Homo sapiens_hsa041140.27842688
99Drug metabolism - other enzymes_Homo sapiens_hsa009830.26769412
100Wnt signaling pathway_Homo sapiens_hsa043100.25466131

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