KDSR

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 catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine. The putative active site residues of the encoded protein are found on the cytosolic side of the endoplasmic reticulum membrane. A chromosomal rearrangement involving this gene is a cause of follicular lymphoma, also known as type II chronic lymphatic leukemia. The mutation of a conserved residue in the bovine ortholog causes spinal muscular atrophy. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1hemidesmosome assembly (GO:0031581)7.92999743
2presynaptic membrane assembly (GO:0097105)5.98543582
3presynaptic membrane organization (GO:0097090)5.80576863
4desmosome organization (GO:0002934)4.72637499
5polyketide metabolic process (GO:0030638)4.67250317
6doxorubicin metabolic process (GO:0044598)4.67250317
7daunorubicin metabolic process (GO:0044597)4.67250317
8cell adhesion mediated by integrin (GO:0033627)4.56372176
9skin morphogenesis (GO:0043589)4.40382506
10keratinocyte proliferation (GO:0043616)4.29334429
11mannosylation (GO:0097502)4.26706973
12chondrocyte proliferation (GO:0035988)4.25229952
13GPI anchor biosynthetic process (GO:0006506)3.95170318
14endodermal cell differentiation (GO:0035987)3.81870847
15nucleotide transmembrane transport (GO:1901679)3.74357755
16negative regulation of keratinocyte proliferation (GO:0010839)3.73861383
17GPI anchor metabolic process (GO:0006505)3.67567741
18postsynaptic membrane organization (GO:0001941)3.62199884
19negative regulation of synaptic transmission, GABAergic (GO:0032229)3.61442910
20regulation of pigment cell differentiation (GO:0050932)3.59497337
21respiratory chain complex IV assembly (GO:0008535)3.58836733
22mesenchymal-epithelial cell signaling (GO:0060638)3.57949186
23fatty acid elongation (GO:0030497)3.55392934
24extracellular matrix assembly (GO:0085029)3.49417765
25central nervous system myelination (GO:0022010)3.45144552
26axon ensheathment in central nervous system (GO:0032291)3.45144552
27cell-substrate junction assembly (GO:0007044)3.43829698
28cellular response to vitamin (GO:0071295)3.43388398
29smooth muscle tissue development (GO:0048745)3.40691558
30kidney mesenchyme development (GO:0072074)3.40378012
31cytochrome complex assembly (GO:0017004)3.38178817
32protein complex biogenesis (GO:0070271)3.36646522
33long-chain fatty acid biosynthetic process (GO:0042759)3.36078475
34establishment of skin barrier (GO:0061436)3.30136733
35mitochondrial respiratory chain complex I assembly (GO:0032981)3.27668587
36NADH dehydrogenase complex assembly (GO:0010257)3.27668587
37mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.27668587
38platelet dense granule organization (GO:0060155)3.24554312
39lung vasculature development (GO:0060426)3.23461875
40C-terminal protein lipidation (GO:0006501)3.23447472
41regulation of keratinocyte proliferation (GO:0010837)3.22817676
42androgen biosynthetic process (GO:0006702)3.22080292
43protein heterotetramerization (GO:0051290)3.21554503
44regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.21044501
45regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.18748303
46cellular response to vitamin D (GO:0071305)3.17757805
47L-fucose catabolic process (GO:0042355)3.17732203
48fucose catabolic process (GO:0019317)3.17732203
49L-fucose metabolic process (GO:0042354)3.17732203
50facial nerve structural organization (GO:0021612)3.16609113
51virion attachment to host cell (GO:0019062)3.14915787
52adhesion of symbiont to host cell (GO:0044650)3.14915787
53protein heterotrimerization (GO:0070208)3.14668504
54collagen fibril organization (GO:0030199)3.13869343
55preassembly of GPI anchor in ER membrane (GO:0016254)3.13722382
56nucleotide transport (GO:0006862)3.11675068
57metanephric mesenchyme development (GO:0072075)3.11167855
58regulation of branching involved in salivary gland morphogenesis (GO:0060693)3.08984497
59regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)3.08790190
60regulation of water loss via skin (GO:0033561)3.06332632
61positive regulation of p38MAPK cascade (GO:1900745)3.06087884
62C-terminal protein amino acid modification (GO:0018410)3.05619791
63omega-hydroxylase P450 pathway (GO:0097267)3.03652032
64type B pancreatic cell proliferation (GO:0044342)2.98652207
65gap junction assembly (GO:0016264)2.97466264
66regulation of transforming growth factor beta1 production (GO:0032908)2.96431797
67cell differentiation involved in metanephros development (GO:0072202)2.92712372
68developmental pigmentation (GO:0048066)2.91624425
69lung lobe morphogenesis (GO:0060463)2.89839551
70proteasome assembly (GO:0043248)2.89701081
71glomerular basement membrane development (GO:0032836)2.89138316
72endothelial cell morphogenesis (GO:0001886)2.89000103
73mitochondrial respiratory chain complex assembly (GO:0033108)2.88629694
74polyol transport (GO:0015791)2.88615336
75generation of neurons (GO:0048699)2.88576833
76regulation of integrin-mediated signaling pathway (GO:2001044)2.87917209
77definitive hemopoiesis (GO:0060216)2.87249838
78adhesion of symbiont to host (GO:0044406)2.86874401
79blood vessel maturation (GO:0001955)2.85538103
80dopamine transport (GO:0015872)2.85134847
81dolichol-linked oligosaccharide biosynthetic process (GO:0006488)2.85050664
82dermatan sulfate biosynthetic process (GO:0030208)2.83746436
83membrane assembly (GO:0071709)2.83436276
84negative regulation of chondrocyte differentiation (GO:0032331)2.83320303
85mammary gland development (GO:0030879)2.83298878
86heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.82845748
87mesodermal cell differentiation (GO:0048333)2.82462073
88signal peptide processing (GO:0006465)2.82167144
89response to nitrosative stress (GO:0051409)2.77157153
90regulation of transforming growth factor beta2 production (GO:0032909)2.76455616
91extracellular matrix disassembly (GO:0022617)2.75697428
92aminoglycoside antibiotic metabolic process (GO:0030647)2.74890011
93response to folic acid (GO:0051593)2.74510316
94keratinization (GO:0031424)2.73314952
95positive regulation of cellular amine metabolic process (GO:0033240)2.72556194
96regulation of rhodopsin mediated signaling pathway (GO:0022400)2.71774265
97peripheral nervous system neuron development (GO:0048935)2.71620624
98collagen metabolic process (GO:0032963)2.71215793
99glial cell migration (GO:0008347)2.70838404
100retina vasculature morphogenesis in camera-type eye (GO:0061299)2.70180271
101lymphoid progenitor cell differentiation (GO:0002320)2.69960751
102glucosamine-containing compound catabolic process (GO:1901072)2.69640220
103regulation of ER to Golgi vesicle-mediated transport (GO:0060628)2.69176389
104nucleoside diphosphate catabolic process (GO:0009134)2.68868104
105keratinocyte differentiation (GO:0030216)2.68816679
106establishment of tissue polarity (GO:0007164)2.67237903
107establishment of planar polarity (GO:0001736)2.67237903
108negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.66042553
109fucosylation (GO:0036065)2.65493717
110cell migration involved in sprouting angiogenesis (GO:0002042)2.64617968
111neuronal action potential propagation (GO:0019227)2.63453291
112sequestering of extracellular ligand from receptor (GO:0035581)2.62619317
113L-serine transport (GO:0015825)2.62460479
114polarized epithelial cell differentiation (GO:0030859)2.62168918
115protein neddylation (GO:0045116)2.61908722
116rhodopsin mediated signaling pathway (GO:0016056)2.61168855
117negative regulation of hormone metabolic process (GO:0032351)2.60820814
118positive regulation of endothelial cell apoptotic process (GO:2000353)2.60334534
119adenosine metabolic process (GO:0046085)2.60112945
120collagen catabolic process (GO:0030574)2.60019021
121negative regulation of neurotransmitter transport (GO:0051589)2.59855389
122maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.59593353
123molting cycle (GO:0042303)2.59026050
124hair cycle (GO:0042633)2.59026050
125response to redox state (GO:0051775)2.57582066
126sodium ion export (GO:0071436)2.57029557
127keratinocyte development (GO:0003334)2.55732657
128positive regulation of cellular amide metabolic process (GO:0034250)2.54824715
129endocardial cushion development (GO:0003197)2.54359653
130sympathetic nervous system development (GO:0048485)2.53858671
131cranial nerve structural organization (GO:0021604)2.53666369
132Leydig cell differentiation (GO:0033327)2.53223568
133dermatan sulfate metabolic process (GO:0030205)2.52744190
134pyrimidine-containing compound transmembrane transport (GO:0072531)2.52695915
135regulation of feeding behavior (GO:0060259)2.52668077
136intermediate filament organization (GO:0045109)2.52409688
137regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.51900224
138extracellular negative regulation of signal transduction (GO:1900116)2.51639868
139extracellular regulation of signal transduction (GO:1900115)2.51639868
140iron ion import (GO:0097286)2.51528607
141detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.51517501
142regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.51472169
143positive regulation of protein sumoylation (GO:0033235)2.51451669
144peptidyl-proline hydroxylation (GO:0019511)2.50153344
145multicellular organismal macromolecule metabolic process (GO:0044259)2.49723746
146negative regulation of hormone biosynthetic process (GO:0032353)2.48456238
147negative regulation of myoblast differentiation (GO:0045662)2.47230181
148cellular potassium ion homeostasis (GO:0030007)2.46410567
149activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)2.45682117
150negative regulation of BMP signaling pathway (GO:0030514)2.44054262
151multicellular organismal metabolic process (GO:0044236)2.43282905
152glomerular visceral epithelial cell development (GO:0072015)2.42417393
153estrogen biosynthetic process (GO:0006703)2.41990494
154response to hyperoxia (GO:0055093)2.41808521
155response to increased oxygen levels (GO:0036296)2.41808521
156autophagic vacuole fusion (GO:0000046)2.41472282
157protein retention in ER lumen (GO:0006621)2.41086397
158DNA ligation (GO:0006266)2.40764038
159UDP-N-acetylglucosamine metabolic process (GO:0006047)2.40162831
160protein hydroxylation (GO:0018126)2.39756273
161wound healing, spreading of epidermal cells (GO:0035313)2.39691896
162positive regulation of osteoblast proliferation (GO:0033690)2.39153072
163glycolipid biosynthetic process (GO:0009247)2.37946783
164bundle of His cell to Purkinje myocyte communication (GO:0086069)2.37917650
165extracellular matrix organization (GO:0030198)2.37770900
166multicellular organismal catabolic process (GO:0044243)2.37570621
167cranial nerve morphogenesis (GO:0021602)2.37426052
168cyclooxygenase pathway (GO:0019371)2.37357076
169regulation of metalloenzyme activity (GO:0048552)2.37198808
170fucose metabolic process (GO:0006004)2.36917425
171positive regulation of astrocyte differentiation (GO:0048711)2.36916252
172extracellular structure organization (GO:0043062)2.36521365
173cell migration involved in heart development (GO:0060973)2.36247277
174regulation of establishment of planar polarity (GO:0090175)2.35628399
175import into cell (GO:0098657)2.35523767
176lymphangiogenesis (GO:0001946)2.35495234
177regulation of osteoblast proliferation (GO:0033688)2.35176115
178epidermis development (GO:0008544)2.34713532
179keratan sulfate catabolic process (GO:0042340)2.34129709
180regulation of timing of cell differentiation (GO:0048505)2.33507617
181neurotransmitter uptake (GO:0001504)2.33007380
182neurotransmitter-gated ion channel clustering (GO:0072578)2.32665365
183magnesium ion transport (GO:0015693)2.32460257
184neuron cell-cell adhesion (GO:0007158)2.31078122
185protein prenylation (GO:0018342)2.30660653
186prenylation (GO:0097354)2.30660653
187eye photoreceptor cell differentiation (GO:0001754)2.29351246
188photoreceptor cell differentiation (GO:0046530)2.29351246
189regulation of respiratory system process (GO:0044065)2.29282306
190ionotropic glutamate receptor signaling pathway (GO:0035235)2.27539940
191negative regulation of neurotransmitter secretion (GO:0046929)2.27464831
192negative regulation of transcription by competitive promoter binding (GO:0010944)2.25589742
193positive regulation of T cell mediated cytotoxicity (GO:0001916)2.24582752
194detection of other organism (GO:0098543)2.22880426
195negative regulation of chemokine production (GO:0032682)2.22566287
196synaptic transmission, glutamatergic (GO:0035249)2.22124959
197mesonephros development (GO:0001823)2.21885086
198protein localization to cilium (GO:0061512)2.21724186

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human8.48500069
2GBX2_23144817_ChIP-Seq_PC3_Human4.59459456
3TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse4.22821052
4TRIM28_21343339_ChIP-Seq_HEK293_Human4.17979157
5SMAD4_19686287_ChIP-ChIP_HaCaT_Human3.81822948
6TAF15_26573619_Chip-Seq_HEK293_Human3.40446070
7PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.02748100
8ZFP57_27257070_Chip-Seq_ESCs_Mouse2.89737322
9FLI1_27457419_Chip-Seq_LIVER_Mouse2.74864770
10PCGF2_27294783_Chip-Seq_ESCs_Mouse2.64584246
11CJUN_26792858_Chip-Seq_BT549_Human2.64313907
12RARG_19884340_ChIP-ChIP_MEFs_Mouse2.60087536
13POU3F2_20337985_ChIP-ChIP_501MEL_Human2.52972234
14SMAD3_18955504_ChIP-ChIP_HaCaT_Human2.48734993
15SMAD2_18955504_ChIP-ChIP_HaCaT_Human2.48734993
16IRF1_19129219_ChIP-ChIP_H3396_Human2.47619489
17GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.46952396
18TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.42383581
19GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.39618202
20HIF1A_21447827_ChIP-Seq_MCF-7_Human2.39496891
21BRD4_25478319_ChIP-Seq_HGPS_Human2.29790151
22SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.27688932
23TP53_16413492_ChIP-PET_HCT116_Human2.18722588
24CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.17527493
25CLOCK_20551151_ChIP-Seq_293T_Human2.06879955
26BMI1_23680149_ChIP-Seq_NPCS_Mouse2.05272850
27* SUZ12_27294783_Chip-Seq_NPCs_Mouse2.02066024
28ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.99942710
29P300_19829295_ChIP-Seq_ESCs_Human1.97632212
30SMAD_19615063_ChIP-ChIP_OVARY_Human1.95664378
31ZNF217_24962896_ChIP-Seq_MCF-7_Human1.91003393
32* NFE2_27457419_Chip-Seq_LIVER_Mouse1.90477104
33FUS_26573619_Chip-Seq_HEK293_Human1.90146320
34CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.89681289
35JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.84050161
36* EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.83476976
37GATA2_21666600_ChIP-Seq_HMVEC_Human1.80714340
38JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.79940636
39SOX9_24532713_ChIP-Seq_HFSC_Mouse1.79344404
40ER_23166858_ChIP-Seq_MCF-7_Human1.78189627
41EZH2_22144423_ChIP-Seq_EOC_Human1.76902430
42EP300_21415370_ChIP-Seq_HL-1_Mouse1.75392923
43* P53_22387025_ChIP-Seq_ESCs_Mouse1.73055035
44* NANOG_18555785_Chip-Seq_ESCs_Mouse1.72975857
45CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.70610716
46PCGF2_27294783_Chip-Seq_NPCs_Mouse1.70410958
47* RUNX1_27457419_Chip-Seq_LIVER_Mouse1.69907265
48EWS_26573619_Chip-Seq_HEK293_Human1.68973785
49* SUZ12_18555785_Chip-Seq_ESCs_Mouse1.68757592
50* EZH2_27294783_Chip-Seq_NPCs_Mouse1.68067905
51* E2F1_18555785_Chip-Seq_ESCs_Mouse1.67617044
52* STAT3_18555785_Chip-Seq_ESCs_Mouse1.63279582
53* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.63278062
54SOX2_20726797_ChIP-Seq_SW620_Human1.61727313
55PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.61451089
56PIAS1_25552417_ChIP-Seq_VCAP_Human1.60629920
57RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.60357446
58* EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.60246743
59TP63_23658742_ChIP-Seq_EP156T_Human1.59649720
60* P300_18555785_Chip-Seq_ESCs_Mouse1.59620945
61ELF1_17652178_ChIP-ChIP_JURKAT_Human1.59020252
62P63_26484246_Chip-Seq_KERATINOCYTES_Human1.58744730
63HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.58610805
64SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.56890868
65UBF1/2_26484160_Chip-Seq_HMECs_Human1.56067707
66VDR_22108803_ChIP-Seq_LS180_Human1.55954832
67* CMYC_18555785_Chip-Seq_ESCs_Mouse1.55919564
68NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.55376681
69EED_16625203_ChIP-ChIP_MESCs_Mouse1.54835288
70SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.54155986
71KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.54134897
72TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.53511523
73OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.51117493
74* NMYC_18555785_Chip-Seq_ESCs_Mouse1.49434555
75SMAD4_21799915_ChIP-Seq_A2780_Human1.49346317
76CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.47562914
77SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.46690559
78ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.46336058
79CTBP1_25329375_ChIP-Seq_LNCAP_Human1.45887480
80TAL1_26923725_Chip-Seq_HPCs_Mouse1.45067324
81RNF2_27304074_Chip-Seq_NSC_Mouse1.44323331
82* SOX2_18555785_Chip-Seq_ESCs_Mouse1.42230169
83TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.42036769
84* OCT4_18555785_Chip-Seq_ESCs_Mouse1.41684570
85PPAR_26484153_Chip-Seq_NCI-H1993_Human1.41663811
86IGF1R_20145208_ChIP-Seq_DFB_Human1.40448256
87CTBP2_25329375_ChIP-Seq_LNCAP_Human1.40254906
88HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.39680338
89CBX2_27304074_Chip-Seq_ESCs_Mouse1.38561597
90POU5F1_16153702_ChIP-ChIP_HESCs_Human1.38254343
91SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.37908196
92MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.35766886
93* PU1_27457419_Chip-Seq_LIVER_Mouse1.34928125
94SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.34812465
95JARID2_20064375_ChIP-Seq_MESCs_Mouse1.34112639
96CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.31914940
97LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.31294564
98* SMAD1_18555785_Chip-Seq_ESCs_Mouse1.30449183
99SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.29429058
100PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.29167488
101EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.28761953
102UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.28508856
103SMAD3_21741376_ChIP-Seq_EPCs_Human1.28404262
104* CRX_20693478_ChIP-Seq_RETINA_Mouse1.28188758
105NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.27779484
106* KLF4_18555785_Chip-Seq_ESCs_Mouse1.26768634
107* ZFX_18555785_Chip-Seq_ESCs_Mouse1.25305282
108AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.25140989
109NRF2_20460467_ChIP-Seq_MEFs_Mouse1.24834797
110NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.24834797
111* CTCF_18555785_Chip-Seq_ESCs_Mouse1.24245565
112AR_21572438_ChIP-Seq_LNCaP_Human1.23853184
113SRF_21415370_ChIP-Seq_HL-1_Mouse1.23222830
114* FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.22780980
115SALL4_18804426_ChIP-ChIP_XEN_Mouse1.22667992
116SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.22427943
117CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.22346145
118EGR1_23403033_ChIP-Seq_LIVER_Mouse1.21755828
119* ESRRB_18555785_Chip-Seq_ESCs_Mouse1.20188192
120LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.19694962
121CDX2_19796622_ChIP-Seq_MESCs_Mouse1.19162599
122NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.18933721
123FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.18871264
124ESR1_21235772_ChIP-Seq_MCF-7_Human1.18780258
125KDM2B_26808549_Chip-Seq_REH_Human1.16650416
126PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.16044024
127EZH2_27304074_Chip-Seq_ESCs_Mouse1.14151308
128TOP2B_26459242_ChIP-Seq_MCF-7_Human1.12912603
129ELK1_22589737_ChIP-Seq_MCF10A_Human1.12520065
130JUN_21703547_ChIP-Seq_K562_Human1.11855084
131P300_27058665_Chip-Seq_ZR-75-30cells_Human1.11570003
132RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.10459213
133WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.09839274
134WT1_19549856_ChIP-ChIP_CCG9911_Human1.08908210
135* AR_25329375_ChIP-Seq_VCAP_Human1.08826785
136SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.07720345
137TP53_18474530_ChIP-ChIP_U2OS_Human1.07107598
138* SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.05632435
139TP53_22127205_ChIP-Seq_IMR90_Human1.05416677
140JARID2_20075857_ChIP-Seq_MESCs_Mouse1.05049460
141KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.03645990
142ZNF263_19887448_ChIP-Seq_K562_Human1.03187252
143* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.02768533
144* OCT4_21477851_ChIP-Seq_ESCs_Mouse1.01485302
145E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.00973797
146PPARG_20887899_ChIP-Seq_3T3-L1_Mouse1.00431037
147AHR_22903824_ChIP-Seq_MCF-7_Human0.99414608
148BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.98267376
149ATF3_27146783_Chip-Seq_COLON_Human0.98184795
150SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.98029014
151FOXO3_23340844_ChIP-Seq_DLD1_Human0.96950232
152RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.90150040
153LXR_22158963_ChIP-Seq_LIVER_Mouse0.88715259
154TP53_20018659_ChIP-ChIP_R1E_Mouse0.88615687
155CDX2_22108803_ChIP-Seq_LS180_Human0.88219712
156NFIB_24661679_ChIP-Seq_LUNG_Mouse0.87814349
157ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.86688926
158PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.86553651
159TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.85908390
160ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.83395739
161ESR2_21235772_ChIP-Seq_MCF-7_Human0.83179862
162RXR_22108803_ChIP-Seq_LS180_Human0.82407696
163EZH2_18974828_ChIP-Seq_MESCs_Mouse0.82197090
164RNF2_18974828_ChIP-Seq_MESCs_Mouse0.82197090
165RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.81350596
166FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.80655121
167Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.79432145
168MTF2_20144788_ChIP-Seq_MESCs_Mouse0.78951512
169TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.77369233
170CTNNB1_20460455_ChIP-Seq_HCT116_Human0.76629571
171TP53_23651856_ChIP-Seq_MEFs_Mouse0.75672983
172ARNT_22903824_ChIP-Seq_MCF-7_Human0.75324081
173ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.75095215

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen5.24684323
2MP0001188_hyperpigmentation5.11855131
3MP0005275_abnormal_skin_tensile4.55909456
4MP0009379_abnormal_foot_pigmentation3.81304642
5MP0003705_abnormal_hypodermis_morpholog3.48043564
6MP0005409_darkened_coat_color3.41811081
7MP0009780_abnormal_chondrocyte_physiolo3.40909534
8MP0003136_yellow_coat_color3.32930773
9MP0005503_abnormal_tendon_morphology3.30732530
10MP0004272_abnormal_basement_membrane3.28062171
11MP0000579_abnormal_nail_morphology3.26265270
12MP0003880_abnormal_central_pattern3.10656072
13MP0006292_abnormal_olfactory_placode2.97728232
14MP0001986_abnormal_taste_sensitivity2.94993489
15MP0005257_abnormal_intraocular_pressure2.93176318
16MP0002876_abnormal_thyroid_physiology2.86043951
17MP0005171_absent_coat_pigmentation2.85728467
18MP0006054_spinal_hemorrhage2.78662116
19MP0002060_abnormal_skin_morphology2.75650896
20MP0004381_abnormal_hair_follicle2.66021277
21MP0002009_preneoplasia2.60612510
22MP0003724_increased_susceptibility_to2.60382350
23MP0000566_synostosis2.56125717
24MP0000015_abnormal_ear_pigmentation2.50588158
25MP0000372_irregular_coat_pigmentation2.47582032
26MP0009697_abnormal_copulation2.41469328
27MP0010368_abnormal_lymphatic_system2.39603091
28MP0002796_impaired_skin_barrier2.32673637
29MP0004147_increased_porphyrin_level2.30053085
30MP0005023_abnormal_wound_healing2.29392112
31MP0010352_gastrointestinal_tract_polyps2.25259463
32MP0003279_aneurysm2.25142022
33MP0000762_abnormal_tongue_morphology2.18905678
34MP0003566_abnormal_cell_adhesion2.12808321
35MP0001958_emphysema2.09394061
36MP0002736_abnormal_nociception_after1.98884620
37MP0002132_abnormal_respiratory_system1.97148839
38MP0008260_abnormal_autophagy1.83792653
39MP0010678_abnormal_skin_adnexa1.82522094
40MP0005670_abnormal_white_adipose1.82019506
41MP0005646_abnormal_pituitary_gland1.80927829
42MP0002735_abnormal_chemical_nociception1.80559594
43MP0001968_abnormal_touch/_nociception1.80230429
44MP0005174_abnormal_tail_pigmentation1.77036241
45MP0009384_cardiac_valve_regurgitation1.76898105
46MP0005508_abnormal_skeleton_morphology1.75743460
47MP0009053_abnormal_anal_canal1.74528389
48MP0005075_abnormal_melanosome_morpholog1.70924785
49MP0001299_abnormal_eye_distance/1.70359407
50MP0000383_abnormal_hair_follicle1.69204639
51MP0003941_abnormal_skin_development1.65818845
52MP0005623_abnormal_meninges_morphology1.59973420
53MP0001216_abnormal_epidermal_layer1.57365059
54MP0002272_abnormal_nervous_system1.57025934
55MP0000467_abnormal_esophagus_morphology1.56661922
56MP0003453_abnormal_keratinocyte_physiol1.55886227
57MP0010771_integument_phenotype1.54341163
58MP0009840_abnormal_foam_cell1.53423196
59MP0000681_abnormal_thyroid_gland1.53014433
60MP0002295_abnormal_pulmonary_circulatio1.51443506
61MP0004142_abnormal_muscle_tone1.51319433
62MP0010386_abnormal_urinary_bladder1.48993369
63MP0002896_abnormal_bone_mineralization1.46348225
64MP0005501_abnormal_skin_physiology1.44975565
65MP0005551_abnormal_eye_electrophysiolog1.42286640
66MP0000427_abnormal_hair_cycle1.36051991
67MP0001905_abnormal_dopamine_level1.33284462
68MP0005645_abnormal_hypothalamus_physiol1.32998183
69MP0010234_abnormal_vibrissa_follicle1.32292993
70MP0003950_abnormal_plasma_membrane1.32168258
71MP0002877_abnormal_melanocyte_morpholog1.30441804
72MP0002095_abnormal_skin_pigmentation1.27269076
73MP0001879_abnormal_lymphatic_vessel1.25274470
74MP0005197_abnormal_uvea_morphology1.22323775
75MP0001984_abnormal_olfaction1.21520008
76MP0004782_abnormal_surfactant_physiolog1.21380340
77MP0003091_abnormal_cell_migration1.20993231
78MP0003191_abnormal_cellular_cholesterol1.20733842
79MP0000920_abnormal_myelination1.20258126
80MP0010030_abnormal_orbit_morphology1.19682344
81MP0003011_delayed_dark_adaptation1.19053151
82MP0001243_abnormal_dermal_layer1.17317086
83MP0002254_reproductive_system_inflammat1.14600253
84MP0001501_abnormal_sleep_pattern1.14507189
85MP0002098_abnormal_vibrissa_morphology1.12436028
86MP0009745_abnormal_behavioral_response1.11044083
87MP0002067_abnormal_sensory_capabilities1.10965492
88MP0003755_abnormal_palate_morphology1.09923345
89MP0002638_abnormal_pupillary_reflex1.08438871
90MP0000163_abnormal_cartilage_morphology1.08057279
91MP0008877_abnormal_DNA_methylation1.07730906
92MP0001486_abnormal_startle_reflex1.07378921
93MP0005408_hypopigmentation1.04885994
94MP0001963_abnormal_hearing_physiology1.03807141
95MP0000767_abnormal_smooth_muscle1.03798439
96MP0009046_muscle_twitch1.02936514
97MP0005367_renal/urinary_system_phenotyp1.01681640
98MP0000516_abnormal_urinary_system1.01681640
99MP0000465_gastrointestinal_hemorrhage1.00357258
100MP0003385_abnormal_body_wall0.99755270
101MP0005164_abnormal_response_to0.99291962
102MP0006276_abnormal_autonomic_nervous0.97474977
103MP0002064_seizures0.96695980
104MP0000647_abnormal_sebaceous_gland0.96213702
105MP0005360_urolithiasis0.96176234
106MP0003186_abnormal_redox_activity0.95937947
107MP0002177_abnormal_outer_ear0.95755763
108MP0001764_abnormal_homeostasis0.95490816
109MP0008789_abnormal_olfactory_epithelium0.95187392
110MP0008995_early_reproductive_senescence0.95010455
111MP0000026_abnormal_inner_ear0.94513111
112MP0009765_abnormal_xenobiotic_induced0.93576055
113MP0004742_abnormal_vestibular_system0.93320970
114MP0005165_increased_susceptibility_to0.92122943
115MP0000428_abnormal_craniofacial_morphol0.91394222
116MP0005084_abnormal_gallbladder_morpholo0.91170260
117MP0001542_abnormal_bone_strength0.90958023
118MP0002572_abnormal_emotion/affect_behav0.90052623
119MP0002160_abnormal_reproductive_system0.89060174
120MP0000377_abnormal_hair_follicle0.88611389
121MP0002234_abnormal_pharynx_morphology0.87044946
122MP0001849_ear_inflammation0.86331539
123MP0008569_lethality_at_weaning0.86049189
124MP0000049_abnormal_middle_ear0.84981262
125MP0003786_premature_aging0.84951301
126MP0001346_abnormal_lacrimal_gland0.84269432
127MP0000013_abnormal_adipose_tissue0.84114298
128MP0000538_abnormal_urinary_bladder0.83058122
129MP0002115_abnormal_skeleton_extremities0.80915345
130MP0000631_abnormal_neuroendocrine_gland0.80267922
131MP0002277_abnormal_respiratory_mucosa0.77750065
132MP0001970_abnormal_pain_threshold0.77566996
133MP0000627_abnormal_mammary_gland0.77208761
134MP0001919_abnormal_reproductive_system0.76705310
135MP0002229_neurodegeneration0.76089903
136MP0002282_abnormal_trachea_morphology0.75702204
137MP0005647_abnormal_sex_gland0.74847066
138MP0003937_abnormal_limbs/digits/tail_de0.74841473
139MP0002249_abnormal_larynx_morphology0.74442826
140MP0005193_abnormal_anterior_eye0.74099490
141MP0000432_abnormal_head_morphology0.72264797
142MP0001348_abnormal_lacrimal_gland0.71565809
143MP0002938_white_spotting0.71491017
144MP0000537_abnormal_urethra_morphology0.71408484
145MP0002734_abnormal_mechanical_nocicepti0.71309319
146MP0005390_skeleton_phenotype0.70121767
147MP0003938_abnormal_ear_development0.69572251
148MP0002108_abnormal_muscle_morphology0.69542814
149MP0001340_abnormal_eyelid_morphology0.69297238
150MP0001485_abnormal_pinna_reflex0.67847354
151MP0002396_abnormal_hematopoietic_system0.67813663
152MP0005253_abnormal_eye_physiology0.67716229
153MP0005423_abnormal_somatic_nervous0.67487664
154MP0001664_abnormal_digestion0.67399317
155MP0002752_abnormal_somatic_nervous0.67062009
156MP0001177_atelectasis0.67056476
157MP0000733_abnormal_muscle_development0.65461517
158MP0008875_abnormal_xenobiotic_pharmacok0.65146270
159MP0005394_taste/olfaction_phenotype0.64899604
160MP0005499_abnormal_olfactory_system0.64899604
161MP0001191_abnormal_skin_condition0.64714361
162MP0002109_abnormal_limb_morphology0.64341110
163MP0002233_abnormal_nose_morphology0.64010699
164MP0009931_abnormal_skin_appearance0.63927428
165MP0003718_maternal_effect0.63822010
166MP0005595_abnormal_vascular_smooth0.63454839
167MP0000534_abnormal_ureter_morphology0.63340836
168MP0005388_respiratory_system_phenotype0.63232973
169MP0002133_abnormal_respiratory_system0.63232973
170MP0009250_abnormal_appendicular_skeleto0.62416110
171MP0002932_abnormal_joint_morphology0.62281704
172MP0002148_abnormal_hypersensitivity_rea0.61710534
173MP0003115_abnormal_respiratory_system0.60656792
174MP0002557_abnormal_social/conspecific_i0.59902021
175MP0001661_extended_life_span0.59400069
176MP0005389_reproductive_system_phenotype0.59105843
177MP0001186_pigmentation_phenotype0.58947399
178MP0005379_endocrine/exocrine_gland_phen0.58701904
179MP0003283_abnormal_digestive_organ0.58577857
180MP0002751_abnormal_autonomic_nervous0.58199955
181MP0001881_abnormal_mammary_gland0.57900181
182MP0005195_abnormal_posterior_eye0.57319848
183MP0002113_abnormal_skeleton_development0.57079179
184MP0000367_abnormal_coat/_hair0.56635387

Predicted human phenotypes

RankGene SetZ-score
1Atrophic scars (HP:0001075)5.18867254
2Follicular hyperkeratosis (HP:0007502)4.71226585
3Protrusio acetabuli (HP:0003179)4.64417144
4Premature rupture of membranes (HP:0001788)4.48739416
5Onycholysis (HP:0001806)4.28784835
6Type I transferrin isoform profile (HP:0003642)4.26929211
7Fragile nails (HP:0001808)4.26459725
8Milia (HP:0001056)4.09880637
9Plantar hyperkeratosis (HP:0007556)3.93559666
10Ankle contracture (HP:0006466)3.84497505
11Reduced antithrombin III activity (HP:0001976)3.77350938
12Hypothermia (HP:0002045)3.66432904
13Vascular tortuosity (HP:0004948)3.59604395
14Alopecia of scalp (HP:0002293)3.58473611
15Thyroid-stimulating hormone excess (HP:0002925)3.52677764
163-Methylglutaconic aciduria (HP:0003535)3.51786689
17Thick nail (HP:0001805)3.50917778
18Natal tooth (HP:0000695)3.40039540
19Arterial tortuosity (HP:0005116)3.28558601
20Broad metatarsal (HP:0001783)3.27550240
21Fragile skin (HP:0001030)3.26307403
22Coronal craniosynostosis (HP:0004440)3.14827427
23Palmoplantar hyperkeratosis (HP:0000972)3.11194289
24Patchy hypopigmentation of hair (HP:0011365)3.09547187
25Aortic aneurysm (HP:0004942)3.06207025
26Nonprogressive disorder (HP:0003680)3.05181353
27Abnormality of nail color (HP:0100643)2.99733786
28Aortic dissection (HP:0002647)2.96715255
29Vertebral compression fractures (HP:0002953)2.94643808
30Palmar hyperkeratosis (HP:0010765)2.94299250
31Wormian bones (HP:0002645)2.91924740
32Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.90220761
33Abnormal protein N-linked glycosylation (HP:0012347)2.90220761
34Abnormal protein glycosylation (HP:0012346)2.90220761
35Abnormal glycosylation (HP:0012345)2.90220761
36Focal motor seizures (HP:0011153)2.88154817
37White forelock (HP:0002211)2.84515263
38Bladder diverticulum (HP:0000015)2.82813226
39Renal Fanconi syndrome (HP:0001994)2.80489041
40Cervical subluxation (HP:0003308)2.79222819
41Chromosomal breakage induced by crosslinking agents (HP:0003221)2.78522910
42Osteolytic defects of the phalanges of the hand (HP:0009771)2.72040668
43Osteolytic defects of the hand bones (HP:0009699)2.72040668
44Parakeratosis (HP:0001036)2.71725712
45Nail dystrophy (HP:0008404)2.71524949
46Shallow orbits (HP:0000586)2.67001790
47Neonatal short-limb short stature (HP:0008921)2.66694901
48Microvesicular hepatic steatosis (HP:0001414)2.63602245
49Abnormal hair whorl (HP:0010721)2.57954805
50Abnormality of the axillary hair (HP:0100134)2.56252058
51Abnormality of secondary sexual hair (HP:0009888)2.56252058
52Tubulointerstitial nephritis (HP:0001970)2.55029283
53Ridged nail (HP:0001807)2.53466327
54Cardiovascular calcification (HP:0011915)2.52541060
55Soft skin (HP:0000977)2.51312391
56Hepatocellular necrosis (HP:0001404)2.50329981
57Abnormality of the renal collecting system (HP:0004742)2.47922320
58Febrile seizures (HP:0002373)2.47908326
59Chromsome breakage (HP:0040012)2.45927451
60Dry hair (HP:0011359)2.42519082
61Severe visual impairment (HP:0001141)2.40121885
62Duplicated collecting system (HP:0000081)2.39505586
63Hypotrichosis (HP:0001006)2.39087556
64Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.38836891
65Anomalous pulmonary venous return (HP:0010772)2.35871439
66Spondylolisthesis (HP:0003302)2.35508710
67Prolonged neonatal jaundice (HP:0006579)2.35184395
68Absent rod-and cone-mediated responses on ERG (HP:0007688)2.35170035
69Mitral stenosis (HP:0001718)2.33488914
70Neurofibrillary tangles (HP:0002185)2.32858307
71Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.32777303
72Conical tooth (HP:0000698)2.31961452
73Right ventricular cardiomyopathy (HP:0011663)2.31389612
74Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.30998155
75Spinal rigidity (HP:0003306)2.30901616
76Mitochondrial inheritance (HP:0001427)2.30431862
77Scanning speech (HP:0002168)2.28077318
78Selective tooth agenesis (HP:0001592)2.26447055
79True hermaphroditism (HP:0010459)2.22134135
80Increased corneal curvature (HP:0100692)2.20569555
81Keratoconus (HP:0000563)2.20569555
82Optic nerve hypoplasia (HP:0000609)2.20184644
83Congenital, generalized hypertrichosis (HP:0004540)2.18781747
84Back pain (HP:0003418)2.14121322
85Woolly hair (HP:0002224)2.13929136
86Vascular calcification (HP:0004934)2.13771974
87Medial flaring of the eyebrow (HP:0010747)2.13563911
88Hepatic necrosis (HP:0002605)2.13509603
89Abnormal rod and cone electroretinograms (HP:0008323)2.12499324
90Increased hepatocellular lipid droplets (HP:0006565)2.10789013
91Slender build (HP:0001533)2.10136184
92Hypergonadotropic hypogonadism (HP:0000815)2.08025926
93Increased CSF lactate (HP:0002490)2.07678814
94Fair hair (HP:0002286)2.07287424
95Abnormality of the pulmonary veins (HP:0011718)2.07183414
96Abnormality of incisor morphology (HP:0011063)2.05453840
97Clubbing of toes (HP:0100760)2.05183623
98Renal cortical cysts (HP:0000803)2.04466994
99Tetraparesis (HP:0002273)2.04448281
100Aplastic anemia (HP:0001915)2.03638832
101Submucous cleft hard palate (HP:0000176)2.03483710
102Abnormality of renal resorption (HP:0011038)2.02735050
103Optic disc pallor (HP:0000543)2.02264037
104Abnormality of the phalanges of the 2nd finger (HP:0009541)2.01394049
105Elbow flexion contracture (HP:0002987)2.00916965
106Corneal erosion (HP:0200020)1.99618335
107Abnormal blistering of the skin (HP:0008066)1.99259947
108Attenuation of retinal blood vessels (HP:0007843)1.97758581
109Septo-optic dysplasia (HP:0100842)1.96932669
110Bradycardia (HP:0001662)1.96376372
111Autoamputation (HP:0001218)1.94797744
112Type 2 muscle fiber atrophy (HP:0003554)1.93137913
113Methylmalonic acidemia (HP:0002912)1.92353009
114Abnormality of magnesium homeostasis (HP:0004921)1.92210270
115Aortic regurgitation (HP:0001659)1.91899791
116Nephrogenic diabetes insipidus (HP:0009806)1.91579352
117Renal tubular dysfunction (HP:0000124)1.91008759
118Hypoplasia of dental enamel (HP:0006297)1.90938088
119Unilateral renal agenesis (HP:0000122)1.90886290
120Vertebral arch anomaly (HP:0008438)1.90253159
121Decreased central vision (HP:0007663)1.89930616
122Abnormality of the preputium (HP:0100587)1.88529883
123Nuclear cataract (HP:0100018)1.87997310
124Pancreatic fibrosis (HP:0100732)1.87602721
125Protruding ear (HP:0000411)1.86421029
126Short hallux (HP:0010109)1.85712284
127Acute necrotizing encephalopathy (HP:0006965)1.85434701
128Genu recurvatum (HP:0002816)1.85360232
129Cerebral inclusion bodies (HP:0100314)1.84608858
130Pterygium (HP:0001059)1.84598152
131Advanced eruption of teeth (HP:0006288)1.84249278
132Short nail (HP:0001799)1.84102226
133Erythema (HP:0010783)1.82747881
134Nasolacrimal duct obstruction (HP:0000579)1.81879592
135Blue sclerae (HP:0000592)1.81856184
136Erythroderma (HP:0001019)1.80321848
137Aplasia/hypoplasia of the uterus (HP:0008684)1.79962541
138Hypomagnesemia (HP:0002917)1.77931253
139Knee flexion contracture (HP:0006380)1.76411315
140Aplasia cutis congenita (HP:0001057)1.76248124
141Congenital ichthyosiform erythroderma (HP:0007431)1.76222551
142Congenital primary aphakia (HP:0007707)1.75735390
143Sparse eyelashes (HP:0000653)1.75356932
144Hydroxyprolinuria (HP:0003080)1.74751276
145Abnormality of proline metabolism (HP:0010907)1.74751276
146Hyperventilation (HP:0002883)1.74687568
147Aplasia involving bones of the upper limbs (HP:0009823)1.74250162
148Aplasia of the phalanges of the hand (HP:0009802)1.74250162
149Aplasia involving bones of the extremities (HP:0009825)1.74250162
150Stomach cancer (HP:0012126)1.74109364
151Corneal dystrophy (HP:0001131)1.73624068
152Congenital stationary night blindness (HP:0007642)1.73368145
153Mitral valve prolapse (HP:0001634)1.71163641
154Retinal dysplasia (HP:0007973)1.71136881
155Mitral regurgitation (HP:0001653)1.70968409
156Aplasia/Hypoplasia of the tibia (HP:0005772)1.70530206
157Abnormality of glycolipid metabolism (HP:0010969)1.70292699
158Abnormality of liposaccharide metabolism (HP:0010968)1.70292699
159Abnormality of glycosphingolipid metabolism (HP:0004343)1.70292699
160Lipid accumulation in hepatocytes (HP:0006561)1.70015774
161Aplasia/Hypoplasia of the fovea (HP:0008060)1.69817823
162Hypoplasia of the fovea (HP:0007750)1.69817823
163Absent eyelashes (HP:0000561)1.69625446
164Lip pit (HP:0100267)1.68989970
165Abnormality of the columella (HP:0009929)1.67822861
166Pancreatic cysts (HP:0001737)1.67498697
167Recurrent corneal erosions (HP:0000495)1.67049928
168Gaze-evoked nystagmus (HP:0000640)1.67044330
169Abnormality of the prostate (HP:0008775)1.66379311
170Abnormality of dentin (HP:0010299)1.66228509
171Sensory axonal neuropathy (HP:0003390)1.66156525
172Generalized hypopigmentation of hair (HP:0011358)1.65772042
173Spinal cord lesions (HP:0100561)1.64771972
174Syringomyelia (HP:0003396)1.64771972
175Deviation of the hallux (HP:0010051)1.64664519
176Morphological abnormality of the inner ear (HP:0011390)1.64630926
177Dyschromatopsia (HP:0007641)1.63936694
178Abnormality of the fovea (HP:0000493)1.63653024
179Weak cry (HP:0001612)1.63465778
180Gait imbalance (HP:0002141)1.63232898
181Aplasia/Hypoplasia of the hallux (HP:0008362)1.62898392
182Aplasia/Hypoplasia of the lens (HP:0008063)1.62639260
183Abnormal hair laboratory examination (HP:0003328)1.61894863
184Type II lissencephaly (HP:0007260)1.61637884
185Short tibia (HP:0005736)1.61462573
186Meckel diverticulum (HP:0002245)1.61423658
187Ovoid vertebral bodies (HP:0003300)1.60446498
188Gingival overgrowth (HP:0000212)1.56462994
189Limb-girdle muscle weakness (HP:0003325)1.56139430
190Aortic valve stenosis (HP:0001650)1.55948089

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK5.29938227
2STK164.27136293
3TNIK3.33862112
4EPHB23.09339868
5LATS22.92719209
6MET2.83102787
7PRPF4B2.81589915
8DDR22.73235860
9PDGFRA2.68979539
10LATS12.60253811
11MUSK2.53958038
12MAP2K72.51809325
13MKNK22.50234299
14MST1R2.43344468
15SIK32.23241235
16STK38L2.15076660
17PTK22.11440983
18ZAK1.94828621
19TGFBR21.85775365
20NTRK11.84792241
21MKNK11.84332309
22NME21.82601668
23NLK1.79781260
24ARAF1.71753422
25ERBB41.70158575
26PAK21.69419126
27OXSR11.62674053
28TGFBR11.62565953
29YES11.57505710
30MST41.57371024
31CDK191.56413416
32NEK91.55186228
33AKT31.54508019
34DMPK1.50104425
35NUAK11.50091417
36PRKD31.49849945
37SGK21.45069864
38RIPK11.43366965
39ADRBK21.42563456
40ABL21.41938450
41PAK41.41386737
42MAP3K121.39955746
43MAPKAPK51.39582871
44TLK11.39309674
45NEK61.37306603
46TEC1.36901192
47IRAK41.36104727
48STK391.35550604
49INSRR1.33077685
50IRAK31.29100645
51BMPR1B1.27133908
52TXK1.26955495
53STK241.26517766
54SRPK11.24778290
55PDGFRB1.24676519
56BMPR21.23810386
57ROCK21.23243502
58SGK2231.23046101
59SGK4941.23046101
60MOS1.22360805
61TRPM71.20214960
62MAP3K141.18498810
63CAMKK21.16245742
64TESK11.15905767
65EIF2AK31.14423653
66LMTK21.13931562
67LIMK11.13396701
68STK381.09859871
69STK31.09449366
70CLK11.06216838
71SIK11.04107669
72ADRBK11.01709946
73MAPK130.98623310
74CDK80.98011506
75MAP3K60.98004830
76GSK3A0.98003532
77CSNK1G10.96850135
78BCR0.93977911
79GRK10.92373274
80EIF2AK20.91543987
81PIM20.89346806
82MAP3K30.88948778
83VRK10.87365993
84BCKDK0.85765150
85FES0.84720584
86SCYL20.84640863
87IRAK10.84554701
88PBK0.83232809
89JAK10.82431240
90GRK70.80842523
91MYLK0.78154085
92CDK30.76960618
93CDK120.75957924
94PLK20.75911484
95PINK10.75203776
96CSNK1G30.71716855
97ERN10.70830024
98CDK60.69926452
99BMX0.69622357
100FLT30.67440718
101TNK20.67145118
102CAMK2B0.67123572
103MAPK70.66880887
104MAP3K90.66838746
105PRKCE0.66444001
106BRSK20.62637170
107PNCK0.61745436
108ROCK10.60870675
109CAMK10.60438270
110MAPKAPK30.59970912
111CDC42BPA0.59901603
112MAP3K130.57768615
113SGK30.57375713
114IRAK20.56056131
115PTK2B0.55550883
116PKN10.54692993
117PIK3CA0.54605099
118ERBB30.54402267
119PAK60.54345447
120RPS6KA20.53492163
121CSNK1A1L0.53062214
122CAMK2A0.52690101
123ILK0.52349859
124EPHB10.51257113
125EPHA20.51095302
126CSNK1G20.50820177
127PRKG20.49705078
128KIT0.49507522
129IKBKE0.48374118
130CAMK2D0.46481423
131IKBKB0.45889594
132TIE10.45001722
133LYN0.43530295
134RAF10.43491533
135BRSK10.43073410
136NEK10.43024963
137MTOR0.42947705
138PRKG10.41988586
139BLK0.41360117
140CAMK2G0.40931403
141TTN0.39833581
142NTRK30.39809770
143DYRK1A0.38749937
144FRK0.37861787
145EPHA40.35953821
146GRK50.35805935
147BRAF0.35690528
148MAPK40.35326527
149FER0.34848880
150PIK3CG0.33598246
151INSR0.32315613
152BTK0.32197756
153PRKD20.32144719
154TSSK60.32121382
155CHUK0.31891703
156RPS6KA50.31552402
157TAOK20.30821601
158CSNK1A10.29901825
159MELK0.29764593
160PDK20.28883599
161RPS6KB10.28689683
162PRKACA0.25885239

Predicted pathways (KEGG)

RankGene SetZ-score
1Protein export_Homo sapiens_hsa030603.84940096
2ECM-receptor interaction_Homo sapiens_hsa045123.82979224
3Fatty acid elongation_Homo sapiens_hsa000623.05270243
4Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.79474534
5Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.59658314
6Phototransduction_Homo sapiens_hsa047442.46596279
7Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.35778952
8Circadian rhythm_Homo sapiens_hsa047102.17798121
9Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.16294313
10Nicotine addiction_Homo sapiens_hsa050332.14509934
11Protein digestion and absorption_Homo sapiens_hsa049742.12033600
12Focal adhesion_Homo sapiens_hsa045102.05894118
13Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.02547417
14SNARE interactions in vesicular transport_Homo sapiens_hsa041302.02209814
15Arachidonic acid metabolism_Homo sapiens_hsa005901.94879200
16Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.94509837
17Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.88949474
18Vitamin digestion and absorption_Homo sapiens_hsa049771.87848636
19Glycosaminoglycan degradation_Homo sapiens_hsa005311.87209475
20Sulfur metabolism_Homo sapiens_hsa009201.81199382
21Retinol metabolism_Homo sapiens_hsa008301.74901961
22Histidine metabolism_Homo sapiens_hsa003401.74521047
23Steroid hormone biosynthesis_Homo sapiens_hsa001401.72968639
24Steroid biosynthesis_Homo sapiens_hsa001001.72878212
25Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.71926094
26Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.68004557
27Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.66696948
28TGF-beta signaling pathway_Homo sapiens_hsa043501.65563801
29Chemical carcinogenesis_Homo sapiens_hsa052041.63567274
30Proteoglycans in cancer_Homo sapiens_hsa052051.63411828
31Oxidative phosphorylation_Homo sapiens_hsa001901.63088929
32Homologous recombination_Homo sapiens_hsa034401.61527546
33Ether lipid metabolism_Homo sapiens_hsa005651.60324993
34Small cell lung cancer_Homo sapiens_hsa052221.58288060
35Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.58036784
36Primary bile acid biosynthesis_Homo sapiens_hsa001201.57960008
37Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.57589031
38* Sphingolipid metabolism_Homo sapiens_hsa006001.56635941
39Hippo signaling pathway_Homo sapiens_hsa043901.56143047
40Complement and coagulation cascades_Homo sapiens_hsa046101.52015418
41Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.47595546
42Collecting duct acid secretion_Homo sapiens_hsa049661.46506457
43Regulation of autophagy_Homo sapiens_hsa041401.44566739
44Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.43745542
45Caffeine metabolism_Homo sapiens_hsa002321.42833303
46Basal transcription factors_Homo sapiens_hsa030221.37247187
47Vitamin B6 metabolism_Homo sapiens_hsa007501.36581276
48Fanconi anemia pathway_Homo sapiens_hsa034601.35075958
49RNA polymerase_Homo sapiens_hsa030201.34230605
50Amoebiasis_Homo sapiens_hsa051461.29450900
51Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.29211297
52Selenocompound metabolism_Homo sapiens_hsa004501.28696722
53Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.28628065
54p53 signaling pathway_Homo sapiens_hsa041151.26062752
55PI3K-Akt signaling pathway_Homo sapiens_hsa041511.24558633
56Lysosome_Homo sapiens_hsa041421.24371437
57Adherens junction_Homo sapiens_hsa045201.22800621
58Peroxisome_Homo sapiens_hsa041461.21143349
59Rheumatoid arthritis_Homo sapiens_hsa053231.20053742
60Vibrio cholerae infection_Homo sapiens_hsa051101.19626498
61Autoimmune thyroid disease_Homo sapiens_hsa053201.16068233
62Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.14853498
63Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.13649427
64Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.11515566
65Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.09311141
66Pentose and glucuronate interconversions_Homo sapiens_hsa000401.08891307
67Bladder cancer_Homo sapiens_hsa052191.06852367
68Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.06467554
69Ribosome_Homo sapiens_hsa030101.05173779
70Prion diseases_Homo sapiens_hsa050201.02418187
71Linoleic acid metabolism_Homo sapiens_hsa005911.01891562
72Renin secretion_Homo sapiens_hsa049240.97759404
73AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.97628526
74Taste transduction_Homo sapiens_hsa047420.97100587
75Pathways in cancer_Homo sapiens_hsa052000.92716781
76MicroRNAs in cancer_Homo sapiens_hsa052060.92708047
77Purine metabolism_Homo sapiens_hsa002300.92599461
78Basal cell carcinoma_Homo sapiens_hsa052170.91889550
79Non-homologous end-joining_Homo sapiens_hsa034500.91768040
80Salivary secretion_Homo sapiens_hsa049700.91292858
81Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.91268592
82Folate biosynthesis_Homo sapiens_hsa007900.89642539
83Serotonergic synapse_Homo sapiens_hsa047260.89015356
84Tryptophan metabolism_Homo sapiens_hsa003800.87005477
85Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.86389744
86beta-Alanine metabolism_Homo sapiens_hsa004100.84732018
87Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.82037247
88Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.81262656
89* Metabolic pathways_Homo sapiens_hsa011000.81236606
90Regulation of actin cytoskeleton_Homo sapiens_hsa048100.80485031
91Phagosome_Homo sapiens_hsa041450.80081671
92alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.79467073
93Bile secretion_Homo sapiens_hsa049760.78159095
94Glutathione metabolism_Homo sapiens_hsa004800.77833923
95Pyrimidine metabolism_Homo sapiens_hsa002400.77518770
96Glutamatergic synapse_Homo sapiens_hsa047240.77296939
97Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.77266386
98Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.77209898
99Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.76667848
100Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.75292292
101PPAR signaling pathway_Homo sapiens_hsa033200.73986726
102Morphine addiction_Homo sapiens_hsa050320.73543599
103Parkinsons disease_Homo sapiens_hsa050120.72782049
104Other glycan degradation_Homo sapiens_hsa005110.72780686
105Hedgehog signaling pathway_Homo sapiens_hsa043400.72433734
106Hematopoietic cell lineage_Homo sapiens_hsa046400.72138425
107Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.71247048
108Tyrosine metabolism_Homo sapiens_hsa003500.70785875
109Dilated cardiomyopathy_Homo sapiens_hsa054140.70480975
110N-Glycan biosynthesis_Homo sapiens_hsa005100.69644252
111ABC transporters_Homo sapiens_hsa020100.68119040
112cGMP-PKG signaling pathway_Homo sapiens_hsa040220.67072606
113GABAergic synapse_Homo sapiens_hsa047270.65538609
114Ras signaling pathway_Homo sapiens_hsa040140.64956014
115Proteasome_Homo sapiens_hsa030500.64670770
116Alzheimers disease_Homo sapiens_hsa050100.64645258
117Cysteine and methionine metabolism_Homo sapiens_hsa002700.63983677
118Synaptic vesicle cycle_Homo sapiens_hsa047210.63908552
119Dorso-ventral axis formation_Homo sapiens_hsa043200.63673746
120Phenylalanine metabolism_Homo sapiens_hsa003600.63012541
121Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.62845999
122Intestinal immune network for IgA production_Homo sapiens_hsa046720.62796577
123Long-term depression_Homo sapiens_hsa047300.60721914
124Vascular smooth muscle contraction_Homo sapiens_hsa042700.57678056
125Wnt signaling pathway_Homo sapiens_hsa043100.57058105
126Thyroid hormone synthesis_Homo sapiens_hsa049180.56956892
127Fatty acid degradation_Homo sapiens_hsa000710.56076748
128Tight junction_Homo sapiens_hsa045300.54999277
129Ovarian steroidogenesis_Homo sapiens_hsa049130.53295762
130Allograft rejection_Homo sapiens_hsa053300.53200335
131Melanogenesis_Homo sapiens_hsa049160.52732797
132Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.47912758
133Renin-angiotensin system_Homo sapiens_hsa046140.47306593
134Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.47207537
135Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.46124263
136Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.45447873
137Axon guidance_Homo sapiens_hsa043600.45140676
138Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.44905170
139One carbon pool by folate_Homo sapiens_hsa006700.43068671
140Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.42961462
141Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.42255393
142Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.42009801
143Huntingtons disease_Homo sapiens_hsa050160.39947835
144Malaria_Homo sapiens_hsa051440.39731753
145Pancreatic secretion_Homo sapiens_hsa049720.39275143
146Asthma_Homo sapiens_hsa053100.38930322
147Nucleotide excision repair_Homo sapiens_hsa034200.38409231
148RNA degradation_Homo sapiens_hsa030180.35455673
149Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.34362076
150Melanoma_Homo sapiens_hsa052180.34283511
151Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.32600274
152Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.32583391
153Olfactory transduction_Homo sapiens_hsa047400.32185573
154Primary immunodeficiency_Homo sapiens_hsa053400.31664343
155Arginine and proline metabolism_Homo sapiens_hsa003300.31548033
156Mineral absorption_Homo sapiens_hsa049780.31424870
157Sulfur relay system_Homo sapiens_hsa041220.30889876
158DNA replication_Homo sapiens_hsa030300.30477417
159Glycerolipid metabolism_Homo sapiens_hsa005610.30063368
160Graft-versus-host disease_Homo sapiens_hsa053320.28724158
161Circadian entrainment_Homo sapiens_hsa047130.28461662

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