RSPH3

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: The protein encoded by this gene acts as a protein kinase A anchoring protein. Mutations in this gene cause primary ciliary dyskinesia; a disorder characterized by defects of the axoneme in motile cilia and sperm flagella. The homolog of this gene was first identified in the blue-green algae Chlamydomonas as encoding a radial spoke protein that formed a structural component of motile cilia and flagella. Alternate splicing results in multiple transcript variants encoding distinct isoforms. 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)6.12169168
2axonemal dynein complex assembly (GO:0070286)6.02936253
3cilium or flagellum-dependent cell motility (GO:0001539)5.97044106
4epithelial cilium movement (GO:0003351)5.90578727
5cilium movement (GO:0003341)5.81202925
6axoneme assembly (GO:0035082)4.99581825
7behavioral response to nicotine (GO:0035095)4.62889995
8fucose catabolic process (GO:0019317)4.44023563
9L-fucose metabolic process (GO:0042354)4.44023563
10L-fucose catabolic process (GO:0042355)4.44023563
11protein localization to cilium (GO:0061512)4.13415140
12response to pheromone (GO:0019236)4.06067905
13cilium organization (GO:0044782)3.97808205
14motile cilium assembly (GO:0044458)3.95989851
15cilium assembly (GO:0042384)3.86962742
16regulation of cilium movement (GO:0003352)3.86463123
17intraciliary transport (GO:0042073)3.64317202
18cilium morphogenesis (GO:0060271)3.62306722
19cellular ketone body metabolic process (GO:0046950)3.38880932
20protein polyglutamylation (GO:0018095)3.30178218
21nonmotile primary cilium assembly (GO:0035058)3.24869522
22neural tube formation (GO:0001841)3.23432020
23indole-containing compound catabolic process (GO:0042436)3.21399507
24indolalkylamine catabolic process (GO:0046218)3.21399507
25tryptophan catabolic process (GO:0006569)3.21399507
26indolalkylamine metabolic process (GO:0006586)3.10372087
27left/right pattern formation (GO:0060972)3.08486470
28cellular component assembly involved in morphogenesis (GO:0010927)3.05850199
29cornea development in camera-type eye (GO:0061303)3.03791505
30ketone body metabolic process (GO:1902224)3.03361623
31kynurenine metabolic process (GO:0070189)3.02233366
32detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.95620263
33kidney morphogenesis (GO:0060993)2.94851395
34photoreceptor cell maintenance (GO:0045494)2.92991755
35regulation of microtubule-based movement (GO:0060632)2.92083821
36detection of light stimulus involved in sensory perception (GO:0050962)2.86955552
37detection of light stimulus involved in visual perception (GO:0050908)2.86955552
38retinal cone cell development (GO:0046549)2.85023441
39smoothened signaling pathway (GO:0007224)2.83868367
40left/right axis specification (GO:0070986)2.82903491
41platelet dense granule organization (GO:0060155)2.75241260
42regulation of hexokinase activity (GO:1903299)2.75176768
43regulation of glucokinase activity (GO:0033131)2.75176768
44tryptophan metabolic process (GO:0006568)2.73323801
45preassembly of GPI anchor in ER membrane (GO:0016254)2.72826732
46negative regulation of cytosolic calcium ion concentration (GO:0051481)2.71812165
47sperm motility (GO:0030317)2.71576588
48startle response (GO:0001964)2.71104040
49water-soluble vitamin biosynthetic process (GO:0042364)2.70754003
50microtubule bundle formation (GO:0001578)2.66653718
51piRNA metabolic process (GO:0034587)2.64851215
52neuronal action potential (GO:0019228)2.64508944
53spinal cord motor neuron differentiation (GO:0021522)2.60217744
54indole-containing compound metabolic process (GO:0042430)2.59334541
55reflex (GO:0060004)2.59147998
56centriole replication (GO:0007099)2.58438561
57limb bud formation (GO:0060174)2.56458906
58gamma-aminobutyric acid transport (GO:0015812)2.56260951
59ventricular system development (GO:0021591)2.56149222
60benzene-containing compound metabolic process (GO:0042537)2.56064391
61negative regulation of mast cell activation (GO:0033004)2.54109625
62nephron epithelium morphogenesis (GO:0072088)2.53738977
63nephron tubule morphogenesis (GO:0072078)2.53738977
64primary amino compound metabolic process (GO:1901160)2.53677127
65negative regulation of T cell differentiation in thymus (GO:0033085)2.53279219
66regulation of hippo signaling (GO:0035330)2.53258113
67inner ear receptor stereocilium organization (GO:0060122)2.52950344
68serotonin metabolic process (GO:0042428)2.51435962
69establishment of protein localization to Golgi (GO:0072600)2.51185550
70S-adenosylmethionine metabolic process (GO:0046500)2.50411758
71cell projection assembly (GO:0030031)2.48854582
72determination of left/right symmetry (GO:0007368)2.46671346
73neurotransmitter metabolic process (GO:0042133)2.45938310
74regulation of action potential (GO:0098900)2.43949150
75photoreceptor cell development (GO:0042461)2.43049828
76ubiquinone biosynthetic process (GO:0006744)2.39910025
77multicellular organism reproduction (GO:0032504)2.39694803
78pyrimidine nucleobase catabolic process (GO:0006208)2.38924596
79ubiquinone metabolic process (GO:0006743)2.36943957
80behavioral response to ethanol (GO:0048149)2.36280217
81dopamine transport (GO:0015872)2.36209407
82auditory receptor cell stereocilium organization (GO:0060088)2.35955723
83exogenous drug catabolic process (GO:0042738)2.35884044
84fucosylation (GO:0036065)2.35548155
85sulfation (GO:0051923)2.34791757
86nucleobase catabolic process (GO:0046113)2.34002504
87G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.33709540
88macroautophagy (GO:0016236)2.31721260
89amine catabolic process (GO:0009310)2.31699683
90cellular biogenic amine catabolic process (GO:0042402)2.31699683
91embryonic epithelial tube formation (GO:0001838)2.30957661
92thyroid hormone metabolic process (GO:0042403)2.30562691
93determination of bilateral symmetry (GO:0009855)2.30075165
94GPI anchor metabolic process (GO:0006505)2.29945242
95proline transport (GO:0015824)2.29889458
96polyol catabolic process (GO:0046174)2.29169915
97negative regulation of systemic arterial blood pressure (GO:0003085)2.28873127
98magnesium ion transport (GO:0015693)2.26933803
99drug catabolic process (GO:0042737)2.26655807
100mannosylation (GO:0097502)2.26526334

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ZNF274_21170338_ChIP-Seq_K562_Hela3.38763217
2GBX2_23144817_ChIP-Seq_PC3_Human2.89489005
3GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.68905110
4VDR_22108803_ChIP-Seq_LS180_Human2.64789563
5ZFP57_27257070_Chip-Seq_ESCs_Mouse2.52027197
6EZH2_22144423_ChIP-Seq_EOC_Human2.38073799
7POU3F2_20337985_ChIP-ChIP_501MEL_Human2.36541801
8GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.29035884
9CTBP2_25329375_ChIP-Seq_LNCAP_Human2.21511137
10IGF1R_20145208_ChIP-Seq_DFB_Human2.07924297
11CTBP1_25329375_ChIP-Seq_LNCAP_Human2.04508095
12TAF15_26573619_Chip-Seq_HEK293_Human2.02963623
13PIAS1_25552417_ChIP-Seq_VCAP_Human1.99251263
14CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.95510716
15FUS_26573619_Chip-Seq_HEK293_Human1.94967663
16FLI1_27457419_Chip-Seq_LIVER_Mouse1.93128686
17AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.92584598
18P300_19829295_ChIP-Seq_ESCs_Human1.90446656
19ER_23166858_ChIP-Seq_MCF-7_Human1.88678645
20TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.85968766
21FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.83761291
22EWS_26573619_Chip-Seq_HEK293_Human1.80717426
23SALL1_21062744_ChIP-ChIP_HESCs_Human1.71658066
24SMAD4_21799915_ChIP-Seq_A2780_Human1.71410884
25NR3C1_21868756_ChIP-Seq_MCF10A_Human1.67008851
26SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.63934204
27* STAT3_23295773_ChIP-Seq_U87_Human1.63310922
28PCGF2_27294783_Chip-Seq_ESCs_Mouse1.63233338
29PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.63115504
30BCAT_22108803_ChIP-Seq_LS180_Human1.60327556
31SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.58349387
32EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.58315367
33AR_25329375_ChIP-Seq_VCAP_Human1.57846201
34TCF4_23295773_ChIP-Seq_U87_Human1.52906635
35MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.52745637
36CBP_20019798_ChIP-Seq_JUKART_Human1.49747744
37IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.49747744
38SMAD3_21741376_ChIP-Seq_EPCs_Human1.48493461
39UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.47101338
40BMI1_23680149_ChIP-Seq_NPCS_Mouse1.45287278
41TOP2B_26459242_ChIP-Seq_MCF-7_Human1.45167751
42TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.41776911
43POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.41776911
44CBX2_27304074_Chip-Seq_ESCs_Mouse1.41131210
45SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.40351474
46EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.38510519
47TCF4_22108803_ChIP-Seq_LS180_Human1.38497695
48REST_21632747_ChIP-Seq_MESCs_Mouse1.34809722
49BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.33069034
50OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.30855527
51RUNX2_22187159_ChIP-Seq_PCA_Human1.29077439
52FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.27636712
53NANOG_19829295_ChIP-Seq_ESCs_Human1.25985478
54SOX2_19829295_ChIP-Seq_ESCs_Human1.25985478
55SMAD4_21741376_ChIP-Seq_EPCs_Human1.25877403
56NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.25332214
57AHR_22903824_ChIP-Seq_MCF-7_Human1.25068062
58ARNT_22903824_ChIP-Seq_MCF-7_Human1.24335894
59FOXA1_27270436_Chip-Seq_PROSTATE_Human1.22953296
60FOXA1_25329375_ChIP-Seq_VCAP_Human1.22953296
61SUZ12_27294783_Chip-Seq_NPCs_Mouse1.21566772
62MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.20851759
63RNF2_27304074_Chip-Seq_NSC_Mouse1.19988188
64TP53_22573176_ChIP-Seq_HFKS_Human1.19195113
65PCGF2_27294783_Chip-Seq_NPCs_Mouse1.18191787
66AR_21572438_ChIP-Seq_LNCaP_Human1.17853113
67FOXA1_21572438_ChIP-Seq_LNCaP_Human1.17367556
68NANOG_18555785_Chip-Seq_ESCs_Mouse1.16889947
69KLF5_20875108_ChIP-Seq_MESCs_Mouse1.16452973
70CDX2_22108803_ChIP-Seq_LS180_Human1.16157156
71CDX2_19796622_ChIP-Seq_MESCs_Mouse1.15617091
72PRDM14_20953172_ChIP-Seq_ESCs_Human1.14912326
73TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.14176853
74NFE2_27457419_Chip-Seq_LIVER_Mouse1.12518772
75EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.12176160
76TP53_16413492_ChIP-PET_HCT116_Human1.11441431
77FLI1_21867929_ChIP-Seq_TH2_Mouse1.10843575
78HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.10663797
79EZH2_27294783_Chip-Seq_NPCs_Mouse1.10481509
80TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.08933513
81AR_20517297_ChIP-Seq_VCAP_Human1.08778806
82PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.08420051
83FOXM1_26456572_ChIP-Seq_MCF-7_Human1.07478801
84ZNF217_24962896_ChIP-Seq_MCF-7_Human1.07049555
85ETV2_25802403_ChIP-Seq_MESCs_Mouse1.07019912
86GATA3_21878914_ChIP-Seq_MCF-7_Human1.06793800
87SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.06212850
88DROSHA_22980978_ChIP-Seq_HELA_Human1.05998972
89TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.05797362
90P53_22387025_ChIP-Seq_ESCs_Mouse1.05322873
91NCOR_22424771_ChIP-Seq_293T_Human1.04461121
92SOX2_21211035_ChIP-Seq_LN229_Gbm1.02962786
93HOXB7_26014856_ChIP-Seq_BT474_Human1.02563765
94GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.02215701
95CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01064622
96TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00833061
97CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.00209843
98CRX_20693478_ChIP-Seq_RETINA_Mouse0.97993359
99IRF1_19129219_ChIP-ChIP_H3396_Human0.96765629
100STAT3_18555785_Chip-Seq_ESCs_Mouse0.96268085

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003195_calcinosis3.43311258
2MP0008875_abnormal_xenobiotic_pharmacok2.68941776
3MP0000569_abnormal_digit_pigmentation2.64828393
4MP0004043_abnormal_pH_regulation2.60811106
5MP0005551_abnormal_eye_electrophysiolog2.42192132
6MP0009046_muscle_twitch2.40847564
7MP0002653_abnormal_ependyma_morphology2.36456131
8MP0008877_abnormal_DNA_methylation2.33611087
9MP0002638_abnormal_pupillary_reflex2.26023603
10MP0002102_abnormal_ear_morphology2.17604841
11MP0002876_abnormal_thyroid_physiology2.05496829
12MP0004133_heterotaxia2.01312867
13MP0006072_abnormal_retinal_apoptosis2.00171571
14MP0005646_abnormal_pituitary_gland1.99824631
15MP0001968_abnormal_touch/_nociception1.95333516
16MP0001984_abnormal_olfaction1.95086329
17MP0003880_abnormal_central_pattern1.94237060
18MP0005253_abnormal_eye_physiology1.91261815
19MP0009745_abnormal_behavioral_response1.89419753
20MP0000427_abnormal_hair_cycle1.86604644
21MP0002837_dystrophic_cardiac_calcinosis1.84647341
22MP0000383_abnormal_hair_follicle1.82838981
23MP0004885_abnormal_endolymph1.80810168
24MP0002928_abnormal_bile_duct1.76926448
25MP0005645_abnormal_hypothalamus_physiol1.70793123
26MP0002272_abnormal_nervous_system1.68053510
27MP0002909_abnormal_adrenal_gland1.66442938
28MP0010386_abnormal_urinary_bladder1.66388930
29MP0003787_abnormal_imprinting1.64881579
30MP0004142_abnormal_muscle_tone1.57217260
31MP0002735_abnormal_chemical_nociception1.56723254
32MP0001986_abnormal_taste_sensitivity1.56394461
33MP0001501_abnormal_sleep_pattern1.53596187
34MP0008872_abnormal_physiological_respon1.53384964
35MP0001486_abnormal_startle_reflex1.51969671
36MP0009780_abnormal_chondrocyte_physiolo1.50093140
37MP0005365_abnormal_bile_salt1.48665582
38MP0005085_abnormal_gallbladder_physiolo1.46633856
39MP0001485_abnormal_pinna_reflex1.45142908
40MP0000631_abnormal_neuroendocrine_gland1.40707180
41MP0005084_abnormal_gallbladder_morpholo1.40705367
42MP0002572_abnormal_emotion/affect_behav1.39963049
43MP0003283_abnormal_digestive_organ1.39402158
44MP0002064_seizures1.35569785
45MP0004147_increased_porphyrin_level1.30018732
46MP0001970_abnormal_pain_threshold1.29927482
47MP0003011_delayed_dark_adaptation1.28480616
48MP0002734_abnormal_mechanical_nocicepti1.27347333
49MP0005174_abnormal_tail_pigmentation1.25786634
50MP0006276_abnormal_autonomic_nervous1.24915309
51MP0002736_abnormal_nociception_after1.24084595
52MP0003136_yellow_coat_color1.21093222
53MP0002557_abnormal_social/conspecific_i1.18976886
54MP0010678_abnormal_skin_adnexa1.18730541
55MP0003122_maternal_imprinting1.17707929
56MP0005410_abnormal_fertilization1.15907964
57MP0002160_abnormal_reproductive_system1.15003478
58MP0003646_muscle_fatigue1.14593655
59MP0002733_abnormal_thermal_nociception1.13637761
60MP0005386_behavior/neurological_phenoty1.12447443
61MP0004924_abnormal_behavior1.12447443
62MP0002067_abnormal_sensory_capabilities1.12183716
63MP0005379_endocrine/exocrine_gland_phen1.10330450
64MP0004742_abnormal_vestibular_system1.10177594
65MP0002938_white_spotting1.08568872
66MP0004019_abnormal_vitamin_homeostasis1.07723557
67MP0001905_abnormal_dopamine_level1.06352564
68MP0005195_abnormal_posterior_eye1.04766082
69MP0005389_reproductive_system_phenotype1.04248338
70MP0003635_abnormal_synaptic_transmissio1.03869699
71MP0003252_abnormal_bile_duct1.01933661
72MP0002063_abnormal_learning/memory/cond1.00186922
73MP0000778_abnormal_nervous_system0.98080791
74MP0000516_abnormal_urinary_system0.97418428
75MP0005367_renal/urinary_system_phenotyp0.97418428
76MP0004270_analgesia0.95833705
77MP0002234_abnormal_pharynx_morphology0.94816570
78MP0001944_abnormal_pancreas_morphology0.94680273
79MP0010329_abnormal_lipoprotein_level0.94320394
80MP0002277_abnormal_respiratory_mucosa0.94080680
81MP0000026_abnormal_inner_ear0.93604250
82MP0002229_neurodegeneration0.93499143
83MP0008775_abnormal_heart_ventricle0.93248266
84MP0001324_abnormal_eye_pigmentation0.92753042
85MP0004215_abnormal_myocardial_fiber0.92316627
86MP0001502_abnormal_circadian_rhythm0.90817230
87MP0003698_abnormal_male_reproductive0.90572684
88MP0008789_abnormal_olfactory_epithelium0.89472803
89MP0008961_abnormal_basal_metabolism0.88344935
90MP0005083_abnormal_biliary_tract0.88264179
91MP0000230_abnormal_systemic_arterial0.88184842
92MP0001765_abnormal_ion_homeostasis0.88122842
93MP0002693_abnormal_pancreas_physiology0.87361364
94MP0000647_abnormal_sebaceous_gland0.85879305
95MP0005332_abnormal_amino_acid0.84624777
96MP0004085_abnormal_heartbeat0.84228071
97MP0002752_abnormal_somatic_nervous0.82900380
98MP0001919_abnormal_reproductive_system0.82815852
99MP0003137_abnormal_impulse_conducting0.82802139
100MP0005377_hearing/vestibular/ear_phenot0.82165294

Predicted human phenotypes

RankGene SetZ-score
1Dynein arm defect of respiratory motile cilia (HP:0012255)5.08449421
2Absent/shortened dynein arms (HP:0200106)5.08449421
3Abnormal respiratory epithelium morphology (HP:0012253)5.02657543
4Abnormal respiratory motile cilium morphology (HP:0005938)5.02657543
5Pancreatic fibrosis (HP:0100732)4.90325346
6Pancreatic cysts (HP:0001737)4.81599560
7Abnormal ciliary motility (HP:0012262)4.80694432
8True hermaphroditism (HP:0010459)4.77431050
9Respiratory insufficiency due to defective ciliary clearance (HP:0200073)4.69323650
10Molar tooth sign on MRI (HP:0002419)4.53981960
11Abnormality of midbrain morphology (HP:0002418)4.53981960
12Abnormal respiratory motile cilium physiology (HP:0012261)4.53814474
13Nephronophthisis (HP:0000090)4.28166452
14Rhinitis (HP:0012384)3.82982157
15Abnormality of the renal medulla (HP:0100957)3.79663534
16Medial flaring of the eyebrow (HP:0010747)3.65289489
17Hyperventilation (HP:0002883)3.55536891
18Cystic liver disease (HP:0006706)3.44019365
19Congenital stationary night blindness (HP:0007642)3.38732746
20Abnormality of the renal cortex (HP:0011035)3.38361225
21Tubular atrophy (HP:0000092)3.32368618
22Type II lissencephaly (HP:0007260)3.16635978
23Chronic hepatic failure (HP:0100626)3.09729993
24Gait imbalance (HP:0002141)3.05508553
25Polydipsia (HP:0001959)3.01342763
26Abnormal drinking behavior (HP:0030082)3.01342763
27Congenital primary aphakia (HP:0007707)2.94822481
28Occipital encephalocele (HP:0002085)2.81549597
29Bronchiectasis (HP:0002110)2.80118406
30Congenital hepatic fibrosis (HP:0002612)2.77551596
31Furrowed tongue (HP:0000221)2.73961263
32Decreased circulating renin level (HP:0003351)2.68605655
33Aplasia/Hypoplasia of the tongue (HP:0010295)2.66317338
34Nephrogenic diabetes insipidus (HP:0009806)2.63022240
35Chronic bronchitis (HP:0004469)2.62805041
36Sclerocornea (HP:0000647)2.58499851
37Male pseudohermaphroditism (HP:0000037)2.51818250
38Anencephaly (HP:0002323)2.49338866
39Postaxial foot polydactyly (HP:0001830)2.48148122
40Genital tract atresia (HP:0001827)2.42050887
41Large for gestational age (HP:0001520)2.39903418
42Inability to walk (HP:0002540)2.38563830
43Absent speech (HP:0001344)2.35590534
44Polyuria (HP:0000103)2.35177829
45Vaginal atresia (HP:0000148)2.31224520
46Cerebellar dysplasia (HP:0007033)2.27658722
47Gaze-evoked nystagmus (HP:0000640)2.25981865
48Attenuation of retinal blood vessels (HP:0007843)2.25434300
49Broad-based gait (HP:0002136)2.22923863
50Abnormal rod and cone electroretinograms (HP:0008323)2.22854401
51Abolished electroretinogram (ERG) (HP:0000550)2.19137821
52Progressive cerebellar ataxia (HP:0002073)2.17771250
53Lissencephaly (HP:0001339)2.17506348
54Postaxial hand polydactyly (HP:0001162)2.12447246
55Decreased central vision (HP:0007663)2.10943808
56Abnormal biliary tract physiology (HP:0012439)2.06585873
57Bile duct proliferation (HP:0001408)2.06585873
58Poor coordination (HP:0002370)2.06207735
59Tubulointerstitial nephritis (HP:0001970)2.03206840
60Tubulointerstitial abnormality (HP:0001969)2.01662205
61Congenital, generalized hypertrichosis (HP:0004540)1.99719993
62Hypothermia (HP:0002045)1.97484919
63Progressive inability to walk (HP:0002505)1.96473827
64Fair hair (HP:0002286)1.95369253
65Abnormality of alanine metabolism (HP:0010916)1.92877093
66Hyperalaninemia (HP:0003348)1.92877093
67Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.92877093
68Renal cortical cysts (HP:0000803)1.92514717
69Hemiparesis (HP:0001269)1.91799225
70Keratoconus (HP:0000563)1.90697597
71Increased corneal curvature (HP:0100692)1.90697597
72Aplasia/Hypoplasia of the tibia (HP:0005772)1.90517524
73Abnormal urine output (HP:0012590)1.90411152
74Tubulointerstitial fibrosis (HP:0005576)1.90337638
75Abnormality of renin-angiotensin system (HP:0000847)1.87812489
76Oculomotor apraxia (HP:0000657)1.87575332
77Widely spaced teeth (HP:0000687)1.86129129
78Severe muscular hypotonia (HP:0006829)1.83872825
79Febrile seizures (HP:0002373)1.83209209
80Abnormality of renal excretion (HP:0011036)1.81636125
81Abnormality of macular pigmentation (HP:0008002)1.78718846
82Stage 5 chronic kidney disease (HP:0003774)1.78650403
83Genetic anticipation (HP:0003743)1.77994369
84Pachygyria (HP:0001302)1.77589273
85Protruding tongue (HP:0010808)1.77385039
86Clumsiness (HP:0002312)1.76913093
87Chorioretinal atrophy (HP:0000533)1.76662786
88Infertility (HP:0000789)1.75974789
89Ketoacidosis (HP:0001993)1.73765565
90Retinitis pigmentosa (HP:0000510)1.73533349
91Aplasia/hypoplasia of the uterus (HP:0008684)1.72445485
92Hypoalbuminemia (HP:0003073)1.71800073
93Abnormal albumin level (HP:0012116)1.71800073
94Pendular nystagmus (HP:0012043)1.71415189
95Disproportionate short-trunk short stature (HP:0003521)1.71144618
96Bony spicule pigmentary retinopathy (HP:0007737)1.65209002
97Preaxial hand polydactyly (HP:0001177)1.65011265
98Tachypnea (HP:0002789)1.64703339
99Generalized hypopigmentation of hair (HP:0011358)1.62813430
100Aplasia/Hypoplasia of the spleen (HP:0010451)1.61816341

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK5.36544443
2PINK13.42001602
3BMPR1B3.09335989
4ACVR1B2.83639513
5MAPK152.80956206
6MAP4K22.78219671
7ADRBK22.75487914
8PNCK2.62404598
9GRK12.43968869
10CASK2.39323114
11WNK32.29826466
12MAP3K42.03590552
13WNK41.93568932
14MST41.85380195
15CAMKK21.75322484
16MAPK131.71838048
17DAPK21.70886606
18INSRR1.68935032
19TAOK31.67882456
20NUAK11.63757143
21OXSR11.55989535
22STK391.49285984
23TLK11.46111372
24ZAK1.45963442
25MARK11.40091393
26TNIK1.38217049
27AKT31.37396235
28BCR1.29188322
29PAK31.28505586
30CAMK1G1.24582209
31ADRBK11.22505518
32NTRK31.17494722
33MAPKAPK31.14400545
34PTK2B1.13933605
35MAP2K71.13644126
36PRKCE1.13057644
37BRSK21.01521751
38CSNK1G20.97017901
39PRKCG0.94086843
40DYRK20.87942150
41PHKG10.87885586
42PHKG20.87885586
43EPHA30.86005865
44CAMK1D0.85103925
45PLK20.83935303
46STK38L0.82975662
47MKNK20.82260433
48CSNK1G30.80553080
49ERBB30.79557663
50CSNK1G10.77332332
51TRIM280.77067343
52TGFBR10.76840838
53CSNK1A1L0.73888262
54FER0.69504097
55MAP3K120.68732092
56PRKAA20.67649671
57PIK3CA0.66975409
58SGK20.66819307
59IRAK10.65196460
60CAMK10.60857716
61CAMK2A0.57628578
62MAPKAPK50.57003692
63BCKDK0.56507045
64STK110.55523916
65CHUK0.55009342
66MAP2K40.53673720
67PRKCI0.51558020
68PRKCZ0.48310449
69PRKG10.47467217
70TXK0.47141796
71PRKACA0.46715810
72VRK10.46685115
73SGK4940.45741884
74SGK2230.45741884
75NTRK20.45733273
76TSSK60.43438190
77TIE10.42515132
78PRKAA10.42288258
79MAP2K60.42256048
80MAP3K20.42155102
81IKBKB0.41953261
82FLT30.41692632
83CSNK1A10.41640716
84PRKCQ0.41156589
85WNK10.40440166
86NEK20.40430254
87FGFR20.39375048
88NME10.38444887
89CAMKK10.36080732
90MAP3K70.34484142
91MAP2K10.33821561
92STK30.33198691
93SIK20.33013450
94EPHA40.32899953
95TRPM70.32595974
96PRKCA0.30575323
97ERBB20.29323596
98GRK70.29053911
99CSNK1D0.29039829
100ABL10.28565183

Predicted pathways (KEGG)

RankGene SetZ-score
1Maturity onset diabetes of the young_Homo sapiens_hsa049502.76337557
2Nitrogen metabolism_Homo sapiens_hsa009102.68934402
3Phototransduction_Homo sapiens_hsa047442.56831997
4Linoleic acid metabolism_Homo sapiens_hsa005912.46127344
5Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.37034781
6Butanoate metabolism_Homo sapiens_hsa006502.31873725
7Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.27562332
8alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.23188177
9Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.21851786
10Nicotine addiction_Homo sapiens_hsa050332.18133225
11Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.15743293
12Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.11485921
13Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.01295887
14Tryptophan metabolism_Homo sapiens_hsa003801.86022353
15Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.76074509
16Chemical carcinogenesis_Homo sapiens_hsa052041.74815491
17Protein export_Homo sapiens_hsa030601.68371816
18Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.68281680
19Ether lipid metabolism_Homo sapiens_hsa005651.67399736
20Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.65656512
21Selenocompound metabolism_Homo sapiens_hsa004501.65353802
22Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.57547736
23Oxidative phosphorylation_Homo sapiens_hsa001901.56117118
24Caffeine metabolism_Homo sapiens_hsa002321.55832385
25Insulin secretion_Homo sapiens_hsa049111.47120458
26Taste transduction_Homo sapiens_hsa047421.44032632
27Histidine metabolism_Homo sapiens_hsa003401.41986370
28Peroxisome_Homo sapiens_hsa041461.41758833
29Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.40699941
30ABC transporters_Homo sapiens_hsa020101.40662727
31beta-Alanine metabolism_Homo sapiens_hsa004101.40407620
32Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.33744980
33Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.29914467
34Morphine addiction_Homo sapiens_hsa050321.27712607
35Serotonergic synapse_Homo sapiens_hsa047261.24146806
36Collecting duct acid secretion_Homo sapiens_hsa049661.24100713
37Propanoate metabolism_Homo sapiens_hsa006401.23095100
38Primary bile acid biosynthesis_Homo sapiens_hsa001201.22951268
39Steroid hormone biosynthesis_Homo sapiens_hsa001401.22922584
40Olfactory transduction_Homo sapiens_hsa047401.22118529
41Retinol metabolism_Homo sapiens_hsa008301.19621927
42Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.14913747
43GABAergic synapse_Homo sapiens_hsa047271.14450986
44Glutamatergic synapse_Homo sapiens_hsa047241.12434761
45Circadian entrainment_Homo sapiens_hsa047131.12138636
46Arachidonic acid metabolism_Homo sapiens_hsa005901.11332580
47Regulation of autophagy_Homo sapiens_hsa041401.04975759
48Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.04801800
49Huntingtons disease_Homo sapiens_hsa050161.01426873
50Salivary secretion_Homo sapiens_hsa049701.00579514
51Basal transcription factors_Homo sapiens_hsa030220.95997068
52Sulfur metabolism_Homo sapiens_hsa009200.95518862
53Cocaine addiction_Homo sapiens_hsa050300.91845762
54Parkinsons disease_Homo sapiens_hsa050120.89691176
55Circadian rhythm_Homo sapiens_hsa047100.89289952
56Fatty acid biosynthesis_Homo sapiens_hsa000610.84870971
57Ovarian steroidogenesis_Homo sapiens_hsa049130.83900890
58Mineral absorption_Homo sapiens_hsa049780.82234465
59Cardiac muscle contraction_Homo sapiens_hsa042600.81785864
60Intestinal immune network for IgA production_Homo sapiens_hsa046720.80674062
61Steroid biosynthesis_Homo sapiens_hsa001000.79505326
62Glycerolipid metabolism_Homo sapiens_hsa005610.76972204
63Fatty acid degradation_Homo sapiens_hsa000710.75235370
64Sphingolipid metabolism_Homo sapiens_hsa006000.73049360
65Dopaminergic synapse_Homo sapiens_hsa047280.72406162
66Calcium signaling pathway_Homo sapiens_hsa040200.71066199
67Fanconi anemia pathway_Homo sapiens_hsa034600.68501214
68Vitamin digestion and absorption_Homo sapiens_hsa049770.65996118
69Dorso-ventral axis formation_Homo sapiens_hsa043200.65324651
70Fat digestion and absorption_Homo sapiens_hsa049750.63552557
71Alzheimers disease_Homo sapiens_hsa050100.60769413
72Long-term depression_Homo sapiens_hsa047300.60130751
73Hedgehog signaling pathway_Homo sapiens_hsa043400.59564463
74Homologous recombination_Homo sapiens_hsa034400.59355416
75Type I diabetes mellitus_Homo sapiens_hsa049400.58888076
76Renin secretion_Homo sapiens_hsa049240.56260660
77Amphetamine addiction_Homo sapiens_hsa050310.55888796
78Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.54124386
79cAMP signaling pathway_Homo sapiens_hsa040240.53450846
80Metabolic pathways_Homo sapiens_hsa011000.52738998
81Tyrosine metabolism_Homo sapiens_hsa003500.52474091
82Pentose and glucuronate interconversions_Homo sapiens_hsa000400.52009742
83Asthma_Homo sapiens_hsa053100.51113667
84Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.50004506
85Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.49826505
86Carbohydrate digestion and absorption_Homo sapiens_hsa049730.48696014
87Vascular smooth muscle contraction_Homo sapiens_hsa042700.47757152
88Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.47716542
89Pancreatic secretion_Homo sapiens_hsa049720.46221008
90Gastric acid secretion_Homo sapiens_hsa049710.45962325
91Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.44578060
92Synaptic vesicle cycle_Homo sapiens_hsa047210.42907188
93Aldosterone synthesis and secretion_Homo sapiens_hsa049250.42465049
94Type II diabetes mellitus_Homo sapiens_hsa049300.42172604
95Axon guidance_Homo sapiens_hsa043600.38436423
96Glycerophospholipid metabolism_Homo sapiens_hsa005640.37807935
97RNA polymerase_Homo sapiens_hsa030200.37319619
98Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.36800975
99Cholinergic synapse_Homo sapiens_hsa047250.35915873
100PPAR signaling pathway_Homo sapiens_hsa033200.35723159

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