RIN2

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 RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over the GDP-bound form, and functions as a guanine nucleotide exchange factor for RAB5. The encoded protein is found primarily as a tetramer in the cytoplasm and does not bind other members of the RAB family. Mutations in this gene cause macrocephaly alopecia cutis laxa and scoliosis (MACS) syndrome, an elastic tissue disorder, as well as the related connective tissue disorder, RIN2 syndrome. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of type B pancreatic cell apoptotic process (GO:2000674)5.19565446
2cellular ketone body metabolic process (GO:0046950)4.86890042
3inositol phosphate catabolic process (GO:0071545)4.80830468
4modulation by symbiont of host defense response (GO:0052031)4.76800800
5modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.76800800
6modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.76800800
7positive regulation by organism of defense response of other organism involved in symbiotic interact4.76800800
8modulation by symbiont of host immune response (GO:0052553)4.76800800
9positive regulation by symbiont of host defense response (GO:0052509)4.76800800
10phosphorylated carbohydrate dephosphorylation (GO:0046838)4.65450306
11inositol phosphate dephosphorylation (GO:0046855)4.65450306
12ketone body metabolic process (GO:1902224)4.38183532
13regulation of glucokinase activity (GO:0033131)4.26042349
14regulation of hexokinase activity (GO:1903299)4.26042349
15endocrine pancreas development (GO:0031018)4.17556296
16regulation of interferon-beta biosynthetic process (GO:0045357)4.08839197
17microglial cell activation (GO:0001774)4.03906791
18polyol catabolic process (GO:0046174)4.02338432
19water-soluble vitamin biosynthetic process (GO:0042364)4.01898459
20macrophage activation involved in immune response (GO:0002281)3.97646777
21insulin secretion (GO:0030073)3.96253169
22antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.93902867
23positive regulation of glycolytic process (GO:0045821)3.86381487
24apoptotic cell clearance (GO:0043277)3.84679440
25positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:003573.81191190
26negative regulation of execution phase of apoptosis (GO:1900118)3.76794391
27peptide hormone processing (GO:0016486)3.69807533
28auditory receptor cell differentiation (GO:0042491)3.55807612
29epithelial cell fate commitment (GO:0072148)3.55535664
30respiratory chain complex IV assembly (GO:0008535)3.55477671
31positive regulation of insulin secretion (GO:0032024)3.53583325
32positive regulation of interferon-alpha production (GO:0032727)3.51774348
33lactate metabolic process (GO:0006089)3.47155976
34positive regulation of protein autophosphorylation (GO:0031954)3.45467547
35glycerophospholipid catabolic process (GO:0046475)3.43726500
36response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.43207344
37response to host immune response (GO:0052572)3.43207344
38cytochrome complex assembly (GO:0017004)3.36522709
39dendritic spine morphogenesis (GO:0060997)3.32097761
40detection of calcium ion (GO:0005513)3.31275087
41negative regulation of cytosolic calcium ion concentration (GO:0051481)3.30258535
42regulation of interferon-alpha production (GO:0032647)3.30157260
43signal peptide processing (GO:0006465)3.28427394
44cell adhesion mediated by integrin (GO:0033627)3.26871998
45positive regulation of peptide hormone secretion (GO:0090277)3.23938187
46response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.22169599
47response to host (GO:0075136)3.22169599
48response to host defenses (GO:0052200)3.22169599
49nitric oxide mediated signal transduction (GO:0007263)3.21521064
50cellular response to interferon-alpha (GO:0035457)3.18004970
51keratinocyte development (GO:0003334)3.14272407
52prostate gland growth (GO:0060736)3.12353180
53positive regulation of peptide secretion (GO:0002793)3.10391461
54positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic proc3.09619300
55macrophage activation (GO:0042116)3.07867992
56neutrophil activation involved in immune response (GO:0002283)3.05235231
57positive regulation of calcium ion import (GO:0090280)3.03139182
58positive regulation of macrophage cytokine production (GO:0060907)3.01210104
59positive regulation of actin filament depolymerization (GO:0030836)2.99879949
60regulation of cholesterol storage (GO:0010885)2.97761510
61kidney morphogenesis (GO:0060993)2.97175281
62detection of molecule of bacterial origin (GO:0032490)2.96987744
63nitric oxide biosynthetic process (GO:0006809)2.96902753
64positive regulation of gluconeogenesis (GO:0045722)2.95987262
65positive regulation of interleukin-8 biosynthetic process (GO:0045416)2.91828406
66L-alpha-amino acid transmembrane transport (GO:1902475)2.88454726
67magnesium ion transport (GO:0015693)2.88343895
68negative regulation of hormone biosynthetic process (GO:0032353)2.85628107
69platelet dense granule organization (GO:0060155)2.84618115
70negative regulation of protein oligomerization (GO:0032460)2.83857445
71negative regulation of neurological system process (GO:0031645)2.83455125
72positive regulation of cellular amide metabolic process (GO:0034250)2.83402443
73positive regulation of p38MAPK cascade (GO:1900745)2.82546791
74I-kappaB phosphorylation (GO:0007252)2.81003340
75regulation of ER to Golgi vesicle-mediated transport (GO:0060628)2.79793191
76protein localization to cilium (GO:0061512)2.78059468
77parental behavior (GO:0060746)2.77488850
78regulation of B cell apoptotic process (GO:0002902)2.75760074
79regulation of mononuclear cell migration (GO:0071675)2.72701592
80negative regulation of complement activation (GO:0045916)2.72646659
81glomerular visceral epithelial cell development (GO:0072015)2.70262674
82peptide hormone secretion (GO:0030072)2.70067711
83response to peptidoglycan (GO:0032494)2.69681184
84wound healing, spreading of epidermal cells (GO:0035313)2.69381580
85glandular epithelial cell differentiation (GO:0002067)2.68958315
86keratan sulfate catabolic process (GO:0042340)2.68554198
87positive regulation of macroautophagy (GO:0016239)2.68478335
88adhesion of symbiont to host cell (GO:0044650)2.68164987
89virion attachment to host cell (GO:0019062)2.68164987
90regulation of energy homeostasis (GO:2000505)2.67169752
91peptide secretion (GO:0002790)2.66979036
92retinol metabolic process (GO:0042572)2.66652067
93inositol phosphate-mediated signaling (GO:0048016)2.66615680
94regulation of macrophage cytokine production (GO:0010935)2.66029487
95response to pheromone (GO:0019236)2.65653486
96surfactant homeostasis (GO:0043129)2.64313461
97regulation of insulin secretion (GO:0050796)2.63998867
98negative regulation of gluconeogenesis (GO:0045721)2.63463871
99negative regulation of lipid storage (GO:0010888)2.61866971
100regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022352.60808746
101protein prenylation (GO:0018342)2.60589339
102prenylation (GO:0097354)2.60589339
103dentate gyrus development (GO:0021542)2.60075853
104lipopolysaccharide-mediated signaling pathway (GO:0031663)2.59431140
105response to interferon-alpha (GO:0035455)2.59041672
106hemidesmosome assembly (GO:0031581)2.58074257
107Golgi to endosome transport (GO:0006895)2.57475510
108alanine transport (GO:0032328)2.57333132
109brain morphogenesis (GO:0048854)2.56363743
110positive regulation of myeloid leukocyte cytokine production involved in immune response (GO:00610812.56081754
111regulation of macrophage chemotaxis (GO:0010758)2.55643193
112zinc ion transport (GO:0006829)2.55481626
113response to laminar fluid shear stress (GO:0034616)2.55352861
114glucosamine-containing compound catabolic process (GO:1901072)2.54900961
115negative regulation of acute inflammatory response (GO:0002674)2.54304160
116growth hormone receptor signaling pathway (GO:0060396)2.53799913
117adhesion of symbiont to host (GO:0044406)2.53226718
118regulation of execution phase of apoptosis (GO:1900117)2.52039872
119regulation of Rac protein signal transduction (GO:0035020)2.50790721
120positive regulation of histone H3-K4 methylation (GO:0051571)2.50783016
121positive regulation of hormone secretion (GO:0046887)2.50579830
122low-density lipoprotein particle clearance (GO:0034383)2.50321929
123sphingomyelin metabolic process (GO:0006684)2.50173114
124positive regulation of response to nutrient levels (GO:0032109)2.49620579
125positive regulation of response to extracellular stimulus (GO:0032106)2.49620579
126production of molecular mediator involved in inflammatory response (GO:0002532)2.49206932
127negative regulation of hormone metabolic process (GO:0032351)2.49077754
128positive regulation of toll-like receptor signaling pathway (GO:0034123)2.49066723
129type B pancreatic cell development (GO:0003323)2.48886146
130proline transport (GO:0015824)2.48837500
131immunoglobulin mediated immune response (GO:0016064)2.48460265
132negative regulation of macrophage derived foam cell differentiation (GO:0010745)2.47825046
133regulation of protein glycosylation (GO:0060049)2.47567321
134positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.47401411
135L-phenylalanine catabolic process (GO:0006559)2.47291310
136erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)2.47291310
137protein complex biogenesis (GO:0070271)2.45883428
138glomerular epithelial cell development (GO:0072310)2.45794317
139phagocytosis, engulfment (GO:0006911)2.45126766
140macroautophagy (GO:0016236)2.44142460
141negative regulation of granulocyte differentiation (GO:0030853)2.44135405
142xenobiotic catabolic process (GO:0042178)2.42941836
143erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)2.42928871
144L-phenylalanine metabolic process (GO:0006558)2.42928871
145regulation of peptide hormone secretion (GO:0090276)2.42820200
146retina vasculature morphogenesis in camera-type eye (GO:0061299)2.40922068
147axoneme assembly (GO:0035082)2.40475959
148positive regulation of cholesterol efflux (GO:0010875)2.39313986
149regulation of protein autophosphorylation (GO:0031952)2.38869423
150regulation of heart rate by cardiac conduction (GO:0086091)2.38625715
151peptide transport (GO:0015833)2.38567722
152eosinophil chemotaxis (GO:0048245)2.38112671
153endodermal cell differentiation (GO:0035987)2.37959124
154nodal signaling pathway (GO:0038092)2.37908665
155regulation of autophagic vacuole assembly (GO:2000785)2.37798719
156positive regulation of antigen processing and presentation (GO:0002579)2.37327952
157transcytosis (GO:0045056)2.36954359
158regulation of peptide secretion (GO:0002791)2.36559611
159thyroid hormone metabolic process (GO:0042403)2.36340862
160basement membrane organization (GO:0071711)2.35286961
161negative regulation of protein activation cascade (GO:2000258)2.34441488
162substrate-dependent cell migration (GO:0006929)2.34259321
163positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.33519718
164lymph vessel development (GO:0001945)2.31071011
165response to fluid shear stress (GO:0034405)2.30200529
166regulation of monocyte chemotaxis (GO:0090025)2.30174695
167vascular endothelial growth factor signaling pathway (GO:0038084)2.30124519
168positive regulation of interferon-beta production (GO:0032728)2.29068362
169positive regulation of chemokine production (GO:0032722)2.28419173
170positive regulation of chemokine biosynthetic process (GO:0045080)2.27151607
171positive regulation of chemokine secretion (GO:0090197)2.26919188
172myeloid cell activation involved in immune response (GO:0002275)2.25164796
173cellular extravasation (GO:0045123)2.24731960
174regulation of integrin-mediated signaling pathway (GO:2001044)2.23468972
175positive regulation of interferon-gamma biosynthetic process (GO:0045078)2.23186233
176regulation of membrane protein ectodomain proteolysis (GO:0051043)2.22676680
177positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.22543729
178T-helper 1 type immune response (GO:0042088)2.21552070
179collagen metabolic process (GO:0032963)2.20771750
180positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr2.20134257
181protein localization to endosome (GO:0036010)2.19209085
182collagen catabolic process (GO:0030574)2.19198020
183axon extension involved in axon guidance (GO:0048846)2.18528287
184neuron projection extension involved in neuron projection guidance (GO:1902284)2.18528287
185regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.18120330
186regulation of interleukin-8 biosynthetic process (GO:0045414)2.18061640
187response to muramyl dipeptide (GO:0032495)2.15922938
188negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)2.15653124
189granulocyte activation (GO:0036230)2.15421646
190protein heterotrimerization (GO:0070208)2.14864647
191regulation of chemokine-mediated signaling pathway (GO:0070099)2.14823074
192multicellular organismal macromolecule metabolic process (GO:0044259)2.13676538
193cellular response to growth hormone stimulus (GO:0071378)2.13180157
194positive regulation of monocyte chemotaxis (GO:0090026)2.13042250
195positive regulation of natural killer cell differentiation (GO:0032825)2.12922532
196positive regulation of osteoblast proliferation (GO:0033690)2.12214033
197regulation of SMAD protein import into nucleus (GO:0060390)2.11387481
198lung lobe morphogenesis (GO:0060463)2.11325597
199phagocytosis, recognition (GO:0006910)2.11308444
200platelet-derived growth factor receptor signaling pathway (GO:0048008)2.11167334

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse7.48508304
2TP63_17297297_ChIP-ChIP_HaCaT_Human4.40632700
3TRIM28_21343339_ChIP-Seq_HEK293_Human3.45259934
4IRF8_22096565_ChIP-ChIP_GC-B_Human3.04204404
5IRF8_21731497_ChIP-ChIP_J774_Mouse3.02873485
6BP1_19119308_ChIP-ChIP_Hs578T_Human2.98452136
7TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.70335513
8GBX2_23144817_ChIP-Seq_PC3_Human2.65261451
9IRF8_27001747_Chip-Seq_BMDM_Mouse2.64182789
10Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.52342399
11POU3F2_20337985_ChIP-ChIP_501MEL_Human2.47376623
12FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.44108153
13SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.43960226
14BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.43191077
15ZFP57_27257070_Chip-Seq_ESCs_Mouse2.42286427
16NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.34064398
17ESR1_21235772_ChIP-Seq_MCF-7_Human2.18920340
18ZNF274_21170338_ChIP-Seq_K562_Hela2.13174126
19NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.11804305
20GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.03740020
21* RARG_19884340_ChIP-ChIP_MEFs_Mouse1.98699834
22IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.97877223
23RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.97775986
24AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.91456052
25CDX2_19796622_ChIP-Seq_MESCs_Mouse1.90117278
26EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.85403519
27GATA2_21666600_ChIP-Seq_HMVEC_Human1.84217858
28STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.83093580
29TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.82124714
30CJUN_26792858_Chip-Seq_BT549_Human1.81896650
31FLI1_27457419_Chip-Seq_LIVER_Mouse1.81838077
32ESR2_21235772_ChIP-Seq_MCF-7_Human1.81781824
33VDR_22108803_ChIP-Seq_LS180_Human1.81685046
34SALL1_21062744_ChIP-ChIP_HESCs_Human1.78629392
35P300_19829295_ChIP-Seq_ESCs_Human1.77418705
36CLOCK_20551151_ChIP-Seq_293T_Human1.77416098
37ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.75293184
38STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.69835715
39* CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.67820439
40* SMAD4_21799915_ChIP-Seq_A2780_Human1.67556990
41* VDR_24787735_ChIP-Seq_THP-1_Human1.62928519
42STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.62790553
43* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.60875505
44SOX2_20726797_ChIP-Seq_SW620_Human1.58536710
45FUS_26573619_Chip-Seq_HEK293_Human1.58531596
46CTBP2_25329375_ChIP-Seq_LNCAP_Human1.57827493
47CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.57251741
48WT1_19549856_ChIP-ChIP_CCG9911_Human1.55075979
49STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.54136688
50NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.53792651
51NRF2_20460467_ChIP-Seq_MEFs_Mouse1.53792651
52BCAT_22108803_ChIP-Seq_LS180_Human1.51828544
53PPAR_26484153_Chip-Seq_NCI-H1993_Human1.51826296
54ER_23166858_ChIP-Seq_MCF-7_Human1.51279082
55NANOG_18555785_Chip-Seq_ESCs_Mouse1.50755954
56PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.50401915
57* NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.49158426
58RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.48738893
59* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.47854160
60PCGF2_27294783_Chip-Seq_ESCs_Mouse1.47228652
61* FOXO3_23340844_ChIP-Seq_DLD1_Human1.47024646
62SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.46270932
63SMAD_19615063_ChIP-ChIP_OVARY_Human1.45603094
64* AR_25329375_ChIP-Seq_VCAP_Human1.41672271
65* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.41643625
66SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.41169129
67EZH2_27294783_Chip-Seq_NPCs_Mouse1.39880635
68* CDX2_20551321_ChIP-Seq_CACO-2_Human1.39826544
69HTT_18923047_ChIP-ChIP_STHdh_Human1.39565092
70MYB_21317192_ChIP-Seq_ERMYB_Mouse1.38366106
71SMAD3_21741376_ChIP-Seq_EPCs_Human1.38221435
72EGR1_19374776_ChIP-ChIP_THP-1_Human1.37981351
73* STAT3_23295773_ChIP-Seq_U87_Human1.37708065
74SUZ12_27294783_Chip-Seq_NPCs_Mouse1.37584648
75CTBP1_25329375_ChIP-Seq_LNCAP_Human1.37536347
76THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.37335535
77SOX9_24532713_ChIP-Seq_HFSC_Mouse1.36947653
78* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.36651304
79GATA1_22025678_ChIP-Seq_K562_Human1.35771457
80IGF1R_20145208_ChIP-Seq_DFB_Human1.35737593
81CDX2_22108803_ChIP-Seq_LS180_Human1.35442280
82* EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.35434430
83* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.34437739
84TAF15_26573619_Chip-Seq_HEK293_Human1.32182432
85NR3C1_21868756_ChIP-Seq_MCF10A_Human1.31521051
86ESR1_20079471_ChIP-ChIP_T-47D_Human1.29894441
87OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.29867842
88NFE2_27457419_Chip-Seq_LIVER_Mouse1.29183606
89CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.28858766
90* P53_22387025_ChIP-Seq_ESCs_Mouse1.28187695
91PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.27563650
92BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.26551138
93NANOG_19829295_ChIP-Seq_ESCs_Human1.25887217
94SOX2_19829295_ChIP-Seq_ESCs_Human1.25887217
95* STAT3_18555785_Chip-Seq_ESCs_Mouse1.24616577
96TP53_18474530_ChIP-ChIP_U2OS_Human1.24507839
97* SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.23462866
98* SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.23462866
99TCF4_23295773_ChIP-Seq_U87_Human1.23335451
100FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.23068465
101* CMYC_18555785_Chip-Seq_ESCs_Mouse1.22908173
102UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.21914689
103PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.21722827
104NR3C1_23031785_ChIP-Seq_PC12_Mouse1.21589435
105GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.20578444
106CRX_20693478_ChIP-Seq_RETINA_Mouse1.20033191
107CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.19701291
108PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.18938886
109* E2F1_18555785_Chip-Seq_ESCs_Mouse1.18924023
110RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.18745037
111* SUZ12_18555785_Chip-Seq_ESCs_Mouse1.18073536
112SALL4_18804426_ChIP-ChIP_XEN_Mouse1.17379086
113TCF4_22108803_ChIP-Seq_LS180_Human1.16144186
114EP300_21415370_ChIP-Seq_HL-1_Mouse1.16023033
115EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.15639846
116BMI1_23680149_ChIP-Seq_NPCS_Mouse1.15459301
117RUNX_20019798_ChIP-Seq_JUKART_Human1.14941440
118IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.14758959
119CBP_20019798_ChIP-Seq_JUKART_Human1.14758959
120* FOXA1_25329375_ChIP-Seq_VCAP_Human1.14491549
121* FOXA1_27270436_Chip-Seq_PROSTATE_Human1.14491549
122EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.14469966
123EGR1_23403033_ChIP-Seq_LIVER_Mouse1.14467704
124EWS_26573619_Chip-Seq_HEK293_Human1.13180975
125JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.12907770
126LXR_22158963_ChIP-Seq_LIVER_Mouse1.12805376
127* FOXM1_26456572_ChIP-Seq_MCF-7_Human1.11810624
128NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.11582855
129* SOX2_18555785_Chip-Seq_ESCs_Mouse1.11462303
130P63_26484246_Chip-Seq_KERATINOCYTES_Human1.11439555
131FLI1_21867929_ChIP-Seq_TH2_Mouse1.10948641
132FOXA1_21572438_ChIP-Seq_LNCaP_Human1.10603150
133JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.09828288
134TP53_16413492_ChIP-PET_HCT116_Human1.08256744
135* AHR_22903824_ChIP-Seq_MCF-7_Human1.08163760
136* P300_18555785_Chip-Seq_ESCs_Mouse1.08135786
137VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.08074127
138TP53_22573176_ChIP-Seq_HFKS_Human1.07042594
139HIF1A_21447827_ChIP-Seq_MCF-7_Human1.06777338
140SMAD4_21741376_ChIP-Seq_EPCs_Human1.06746179
141TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.05164032
142* RUNX2_22187159_ChIP-Seq_PCA_Human1.04744017
143KLF5_20875108_ChIP-Seq_MESCs_Mouse1.03503871
144RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.03458422
145OCT4_21477851_ChIP-Seq_ESCs_Mouse1.03180855
146TOP2B_26459242_ChIP-Seq_MCF-7_Human1.02408252
147* OCT4_18555785_Chip-Seq_ESCs_Mouse1.02372781
148BRD4_27068464_Chip-Seq_AML-cells_Mouse1.01879334
149ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.00971721
150* TP63_23658742_ChIP-Seq_EP156T_Human1.00666984
151EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.00665012
152CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.00060871
153* NMYC_18555785_Chip-Seq_ESCs_Mouse0.99254174
154MECOM_23826213_ChIP-Seq_KASUMI_Mouse0.99151804
155SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.98917957
156* CTCF_18555785_Chip-Seq_ESCs_Mouse0.98196232
157KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.97850578
158SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.97265236
159AR_21572438_ChIP-Seq_LNCaP_Human0.97029151
160TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.96831037
161PRDM14_20953172_ChIP-Seq_ESCs_Human0.95911572
162* FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.94907184
163PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.94636969
164SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.94415625
165* BRD4_25478319_ChIP-Seq_HGPS_Human0.94277267
166ELK3_25401928_ChIP-Seq_HUVEC_Human0.93844166
167TBX20_22328084_ChIP-Seq_HEART_Mouse0.93788447
168TBX20_22080862_ChIP-Seq_HEART_Mouse0.93788447
169RXR_22108803_ChIP-Seq_LS180_Human0.91323680
170SPI1_23127762_ChIP-Seq_K562_Human0.90958287
171PU_27001747_Chip-Seq_BMDM_Mouse0.90615673
172* ARNT_22903824_ChIP-Seq_MCF-7_Human0.89326061
173KDM2B_26808549_Chip-Seq_SUP-B15_Human0.88722921
174PIAS1_25552417_ChIP-Seq_VCAP_Human0.88372008
175ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.87303975
176SCL_19346495_ChIP-Seq_HPC-7_Human0.87118268
177NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.86603593
178NFIB_24661679_ChIP-Seq_LUNG_Mouse0.86207493
179IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.84677242
180GATA2_19941826_ChIP-Seq_K562_Human0.84600419
181UBF1/2_26484160_Chip-Seq_HMECs_Human0.84047082
182TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.83608435
183SOX2_27498859_Chip-Seq_STOMACH_Mouse0.82115439
184RXR_22158963_ChIP-Seq_LIVER_Mouse0.80736527
185VDR_24763502_ChIP-Seq_THP-1_Human0.80133596

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis4.80499701
2MP0009780_abnormal_chondrocyte_physiolo4.27900359
3MP0008438_abnormal_cutaneous_collagen4.16393823
4MP0005379_endocrine/exocrine_gland_phen3.78169814
5MP0003195_calcinosis3.71252078
6MP0002163_abnormal_gland_morphology3.06857760
7MP0005058_abnormal_lysosome_morphology3.03507881
8MP0005275_abnormal_skin_tensile2.94644254
9MP0002909_abnormal_adrenal_gland2.90907556
10MP0003705_abnormal_hypodermis_morpholog2.86096597
11MP0003191_abnormal_cellular_cholesterol2.79532734
12MP0002139_abnormal_hepatobiliary_system2.76726472
13MP0003787_abnormal_imprinting2.74556386
14MP0000013_abnormal_adipose_tissue2.62579412
15MP0002254_reproductive_system_inflammat2.57394402
16MP0001944_abnormal_pancreas_morphology2.56672872
17MP0002693_abnormal_pancreas_physiology2.40210102
18MP0002876_abnormal_thyroid_physiology2.37858043
19MP0001958_emphysema2.37494449
20MP0003724_increased_susceptibility_to2.36124414
21MP0006082_CNS_inflammation2.30360985
22MP0003279_aneurysm2.26625610
23MP0003283_abnormal_digestive_organ2.07757269
24MP0006072_abnormal_retinal_apoptosis2.04783463
25MP0003436_decreased_susceptibility_to2.02992177
26MP0010386_abnormal_urinary_bladder2.01575053
27MP0004272_abnormal_basement_membrane2.00399249
28MP0005646_abnormal_pituitary_gland2.00313153
29MP0003303_peritoneal_inflammation1.99458168
30MP0008877_abnormal_DNA_methylation1.98968774
31MP0003566_abnormal_cell_adhesion1.97361156
32MP0001533_abnormal_skeleton_physiology1.91313768
33MP0005645_abnormal_hypothalamus_physiol1.91130426
34MP0001835_abnormal_antigen_presentation1.89161063
35MP0005503_abnormal_tendon_morphology1.85648409
36MP0000343_altered_response_to1.84121510
37MP0001756_abnormal_urination1.82253449
38MP0003300_gastrointestinal_ulcer1.82231033
39MP0002419_abnormal_innate_immunity1.81939730
40MP0005167_abnormal_blood-brain_barrier1.81102227
41MP0002148_abnormal_hypersensitivity_rea1.78761278
42MP0005220_abnormal_exocrine_pancreas1.71069212
43MP0003075_altered_response_to1.70996245
44MP0001879_abnormal_lymphatic_vessel1.66521336
45MP0010368_abnormal_lymphatic_system1.64771122
46MP0009384_cardiac_valve_regurgitation1.64483803
47MP0003828_pulmonary_edema1.64446637
48MP0003690_abnormal_glial_cell1.63640731
49MP0003122_maternal_imprinting1.63397207
50MP0000767_abnormal_smooth_muscle1.63287349
51MP0009046_muscle_twitch1.62238606
52MP0002998_abnormal_bone_remodeling1.55618905
53MP0001984_abnormal_olfaction1.55582038
54MP0004019_abnormal_vitamin_homeostasis1.53656441
55MP0010234_abnormal_vibrissa_follicle1.53506921
56MP0003045_fibrosis1.50270934
57MP0005023_abnormal_wound_healing1.48250020
58MP0009785_altered_susceptibility_to1.48051926
59MP0005164_abnormal_response_to1.46416734
60MP0010329_abnormal_lipoprotein_level1.44631153
61MP0005332_abnormal_amino_acid1.44548266
62MP0003172_abnormal_lysosome_physiology1.43628308
63MP0000427_abnormal_hair_cycle1.43319338
64MP0002078_abnormal_glucose_homeostasis1.43061883
65MP0009840_abnormal_foam_cell1.42731812
66MP0004510_myositis1.42088715
67MP0003448_altered_tumor_morphology1.40198447
68MP0002060_abnormal_skin_morphology1.38143999
69MP0005551_abnormal_eye_electrophysiolog1.38078900
70MP0002928_abnormal_bile_duct1.35773964
71MP0004043_abnormal_pH_regulation1.34512997
72MP0009278_abnormal_bone_marrow1.34377672
73MP0003453_abnormal_keratinocyte_physiol1.33002215
74MP0005365_abnormal_bile_salt1.32717053
75MP0004782_abnormal_surfactant_physiolog1.32264574
76MP0003091_abnormal_cell_migration1.31659814
77MP0005390_skeleton_phenotype1.31200695
78MP0005174_abnormal_tail_pigmentation1.30014371
79MP0002295_abnormal_pulmonary_circulatio1.29029724
80MP0005257_abnormal_intraocular_pressure1.28842274
81MP0005253_abnormal_eye_physiology1.28157534
82MP0005000_abnormal_immune_tolerance1.28014033
83MP0004947_skin_inflammation1.26874693
84MP0000538_abnormal_urinary_bladder1.26642770
85MP0005084_abnormal_gallbladder_morpholo1.26485657
86MP0006054_spinal_hemorrhage1.25815935
87MP0005025_abnormal_response_to1.25173289
88MP0005166_decreased_susceptibility_to1.24688992
89MP0005387_immune_system_phenotype1.23320373
90MP0001790_abnormal_immune_system1.23320373
91MP0009764_decreased_sensitivity_to1.23267255
92MP0001501_abnormal_sleep_pattern1.22785960
93MP0000569_abnormal_digit_pigmentation1.20216932
94MP0001851_eye_inflammation1.20111441
95MP0000003_abnormal_adipose_tissue1.19395090
96MP0000372_irregular_coat_pigmentation1.19266967
97MP0004270_analgesia1.18599611
98MP0002638_abnormal_pupillary_reflex1.17770656
99MP0004185_abnormal_adipocyte_glucose1.15802921
100MP0001661_extended_life_span1.14999313
101MP0002452_abnormal_antigen_presenting1.12968163
102MP0002090_abnormal_vision1.12511861
103MP0005464_abnormal_platelet_physiology1.11993931
104MP0004883_abnormal_blood_vessel1.11913964
105MP0002166_altered_tumor_susceptibility1.11371504
106MP0002282_abnormal_trachea_morphology1.11307742
107MP0001986_abnormal_taste_sensitivity1.09587760
108MP0008004_abnormal_stomach_pH1.07743090
109MP0005636_abnormal_mineral_homeostasis1.06380646
110MP0001765_abnormal_ion_homeostasis1.06056298
111MP0003633_abnormal_nervous_system1.05627622
112MP0004885_abnormal_endolymph1.04208527
113MP0005623_abnormal_meninges_morphology1.03445403
114MP0000685_abnormal_immune_system1.00982519
115MP0009745_abnormal_behavioral_response1.00899755
116MP0005508_abnormal_skeleton_morphology1.00698182
117MP0000249_abnormal_blood_vessel1.00236338
118MP0002933_joint_inflammation0.99898017
119MP0003953_abnormal_hormone_level0.99743584
120MP0002006_tumorigenesis0.99628821
121MP0010678_abnormal_skin_adnexa0.99395759
122MP0005448_abnormal_energy_balance0.99208621
123MP0002796_impaired_skin_barrier0.98264800
124MP0001542_abnormal_bone_strength0.98141745
125MP0004215_abnormal_myocardial_fiber0.98061101
126MP0000516_abnormal_urinary_system0.97508517
127MP0005367_renal/urinary_system_phenotyp0.97508517
128MP0000639_abnormal_adrenal_gland0.96212131
129MP0002938_white_spotting0.95269036
130MP0005535_abnormal_body_temperature0.93668393
131MP0001764_abnormal_homeostasis0.93622642
132MP0001881_abnormal_mammary_gland0.93527798
133MP0002896_abnormal_bone_mineralization0.93392411
134MP0005248_abnormal_Harderian_gland0.92441917
135MP0005076_abnormal_cell_differentiation0.91866210
136MP0002133_abnormal_respiratory_system0.91533387
137MP0005388_respiratory_system_phenotype0.91533387
138MP0001845_abnormal_inflammatory_respons0.91426022
139MP0003121_genomic_imprinting0.91239753
140MP0000733_abnormal_muscle_development0.91072034
141MP0000465_gastrointestinal_hemorrhage0.90800314
142MP0008469_abnormal_protein_level0.90714143
143MP0000604_amyloidosis0.90674653
144MP0002168_other_aberrant_phenotype0.89136424
145MP0002118_abnormal_lipid_homeostasis0.88175644
146MP0005165_increased_susceptibility_to0.87904484
147MP0003941_abnormal_skin_development0.87438985
148MP0000015_abnormal_ear_pigmentation0.87320069
149MP0003123_paternal_imprinting0.87196322
150MP0003795_abnormal_bone_structure0.87025506
151MP0002102_abnormal_ear_morphology0.86879513
152MP0005670_abnormal_white_adipose0.86623918
153MP0010155_abnormal_intestine_physiology0.85270816
154MP0002723_abnormal_immune_serum0.84744596
155MP0001853_heart_inflammation0.84730376
156MP0005075_abnormal_melanosome_morpholog0.84076418
157MP0002405_respiratory_system_inflammati0.84051219
158MP0004133_heterotaxia0.83955623
159MP0000383_abnormal_hair_follicle0.83600998
160MP0004130_abnormal_muscle_cell0.82051788
161MP0001905_abnormal_dopamine_level0.81833421
162MP0010352_gastrointestinal_tract_polyps0.81593171
163MP0005197_abnormal_uvea_morphology0.81258782
164MP0009643_abnormal_urine_homeostasis0.81040391
165MP0005171_absent_coat_pigmentation0.80827304
166MP0001216_abnormal_epidermal_layer0.80698661
167MP0000631_abnormal_neuroendocrine_gland0.79333027
168MP0008872_abnormal_physiological_respon0.79108079
169MP0002064_seizures0.77250602
170MP0000230_abnormal_systemic_arterial0.77214681
171MP0003252_abnormal_bile_duct0.77175631
172MP0004484_altered_response_of0.73579439
173MP0005647_abnormal_sex_gland0.73509656
174MP0002277_abnormal_respiratory_mucosa0.73407350
175MP0003011_delayed_dark_adaptation0.73174975
176MP0005389_reproductive_system_phenotype0.72663503
177MP0006036_abnormal_mitochondrial_physio0.71746831
178MP0001970_abnormal_pain_threshold0.70982193
179MP0002557_abnormal_social/conspecific_i0.69325951
180MP0008875_abnormal_xenobiotic_pharmacok0.68237011
181MP0002229_neurodegeneration0.67797041
182MP0000613_abnormal_salivary_gland0.67282435

Predicted human phenotypes

RankGene SetZ-score
1Systemic lupus erythematosus (HP:0002725)5.42464638
2Hypothermia (HP:0002045)4.48296979
3Glomerulonephritis (HP:0000099)4.27757399
4Hyperglycemia (HP:0003074)4.21646610
5Eczematoid dermatitis (HP:0000976)4.15560890
6Ketoacidosis (HP:0001993)4.13623534
7Hypoglycemic coma (HP:0001325)3.84767653
8Hyperinsulinemic hypoglycemia (HP:0000825)3.81424934
9Recurrent abscess formation (HP:0002722)3.73067561
10Hematochezia (HP:0002573)3.72894778
11Abnormality of aromatic amino acid family metabolism (HP:0004338)3.72364376
12Hypoglycemic seizures (HP:0002173)3.70068688
13Hemiparesis (HP:0001269)3.61156948
14Cerebral aneurysm (HP:0004944)3.59123891
15Hamartoma of the eye (HP:0010568)3.54118583
16Nephritis (HP:0000123)3.52049250
17Enlarged penis (HP:0000040)3.47913173
18Recurrent bacterial skin infections (HP:0005406)3.44707189
19Increased cerebral lipofuscin (HP:0011813)3.43628247
20Axonal loss (HP:0003447)3.43384905
21Arterial tortuosity (HP:0005116)3.41783778
22Vacuolated lymphocytes (HP:0001922)3.38209719
23Dysostosis multiplex (HP:0000943)3.37154757
24Conjunctival hamartoma (HP:0100780)3.37050405
25Increased CSF protein (HP:0002922)3.33462407
26Aortic aneurysm (HP:0004942)3.33036126
27Osteolytic defects of the phalanges of the hand (HP:0009771)3.23414032
28Osteolytic defects of the hand bones (HP:0009699)3.23414032
29Vascular tortuosity (HP:0004948)3.20938347
30Abnormality of vitamin B metabolism (HP:0004340)3.19218606
31Neoplasm of the adrenal cortex (HP:0100641)3.17024695
32Aortic dissection (HP:0002647)3.16864183
33Premature rupture of membranes (HP:0001788)3.16258390
34Tongue fasciculations (HP:0001308)3.15785300
35Large for gestational age (HP:0001520)3.14826251
36Cervical subluxation (HP:0003308)3.13481592
37Complement deficiency (HP:0004431)3.13421675
38Progressive macrocephaly (HP:0004481)3.04597651
39Recurrent gram-negative bacterial infections (HP:0005420)2.99873701
40Thick nail (HP:0001805)2.99757086
41Atrophic scars (HP:0001075)2.98704643
42Increased neuronal autofluorescent lipopigment (HP:0002074)2.96586744
43Protrusio acetabuli (HP:0003179)2.87599921
44Metaphyseal dysplasia (HP:0100255)2.87522723
45Congenital sensorineural hearing impairment (HP:0008527)2.85337940
46Ketosis (HP:0001946)2.83990534
47Myocardial infarction (HP:0001658)2.81834880
48Urinary glycosaminoglycan excretion (HP:0003541)2.80612904
49Mucopolysacchariduria (HP:0008155)2.80612904
50Congenital malformation of the right heart (HP:0011723)2.76891621
51Double outlet right ventricle (HP:0001719)2.76891621
52Hypoalbuminemia (HP:0003073)2.76301018
53Abnormal albumin level (HP:0012116)2.76301018
54Follicular hyperkeratosis (HP:0007502)2.75472404
55Methylmalonic acidemia (HP:0002912)2.68239262
56Muscle fibrillation (HP:0010546)2.65998692
57Abnormality of macrophages (HP:0004311)2.65039687
58Abnormality of complement system (HP:0005339)2.64738208
59Shallow orbits (HP:0000586)2.63766286
60Abnormality of endocrine pancreas physiology (HP:0012093)2.63669837
61Abnormality of the pancreatic islet cells (HP:0006476)2.63669837
62Interstitial pulmonary disease (HP:0006530)2.62972576
63Insulin-resistant diabetes mellitus (HP:0000831)2.56620932
64Abnormality of glycosaminoglycan metabolism (HP:0004371)2.55520677
65Abnormality of mucopolysaccharide metabolism (HP:0011020)2.55520677
66Abnormality of polysaccharide metabolism (HP:0011012)2.55520677
67Abnormality of vitamin metabolism (HP:0100508)2.54809160
68Disinhibition (HP:0000734)2.54745603
69Symptomatic seizures (HP:0011145)2.54061491
70Intestinal atresia (HP:0011100)2.52767866
71Hyperthyroidism (HP:0000836)2.49666132
72Abnormality of glycolipid metabolism (HP:0010969)2.49239112
73Abnormality of liposaccharide metabolism (HP:0010968)2.49239112
74Abnormality of glycosphingolipid metabolism (HP:0004343)2.49239112
75Broad metatarsal (HP:0001783)2.48165468
76Abnormality of the renal cortex (HP:0011035)2.44972211
77Pancreatic fibrosis (HP:0100732)2.44971255
78Nephronophthisis (HP:0000090)2.44389899
79Autoimmune thrombocytopenia (HP:0001973)2.42694428
80Furrowed tongue (HP:0000221)2.42451039
81Spontaneous hematomas (HP:0007420)2.42149524
82Late onset (HP:0003584)2.41131842
83Vascular calcification (HP:0004934)2.41002049
84Spondylolisthesis (HP:0003302)2.40220591
85Testicular neoplasm (HP:0010788)2.38250966
86Hypomagnesemia (HP:0002917)2.34907755
87Agitation (HP:0000713)2.32551099
88Polydipsia (HP:0001959)2.32451842
89Abnormal drinking behavior (HP:0030082)2.32451842
90Thyroiditis (HP:0100646)2.31981771
91Ankle contracture (HP:0006466)2.31706727
92Right ventricular cardiomyopathy (HP:0011663)2.31608353
93Cutaneous melanoma (HP:0012056)2.25901245
94Mitral valve prolapse (HP:0001634)2.24929988
95Abnormality of urine glucose concentration (HP:0011016)2.24501840
96Glycosuria (HP:0003076)2.24501840
97Vertebral compression fractures (HP:0002953)2.24154756
98Gaze-evoked nystagmus (HP:0000640)2.23926565
99Pancreatic cysts (HP:0001737)2.22888752
100Postural tremor (HP:0002174)2.22340566
101Peritonitis (HP:0002586)2.21334533
102Aqueductal stenosis (HP:0002410)2.21286835
103Gingivitis (HP:0000230)2.20396773
104Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.17645982
105Medial flaring of the eyebrow (HP:0010747)2.17554758
106Tubular atrophy (HP:0000092)2.17253890
107Acute necrotizing encephalopathy (HP:0006965)2.16737544
108Neoplasm of the adrenal gland (HP:0100631)2.16539787
109Hypoplasia of the fovea (HP:0007750)2.15521526
110Aplasia/Hypoplasia of the fovea (HP:0008060)2.15521526
111Congenital stationary night blindness (HP:0007642)2.13673630
112Cardiovascular calcification (HP:0011915)2.12436329
113Renal cortical cysts (HP:0000803)2.10932874
114Albinism (HP:0001022)2.09751201
115Abnormality of the lumbar spine (HP:0100712)2.09572330
116Disproportionate short-trunk short stature (HP:0003521)2.07906643
117Methylmalonic aciduria (HP:0012120)2.07545712
118Soft skin (HP:0000977)2.07236653
119Periodontitis (HP:0000704)2.04818646
120Esophageal varix (HP:0002040)2.03330559
121Disproportionate tall stature (HP:0001519)2.02950439
122Prostate neoplasm (HP:0100787)2.01807399
123EEG with generalized epileptiform discharges (HP:0011198)2.01409625
124Abnormal rod and cone electroretinograms (HP:0008323)2.00598194
125Pulmonary artery stenosis (HP:0004415)2.00437315
126Abnormality of the renal medulla (HP:0100957)2.00268177
127Molar tooth sign on MRI (HP:0002419)1.99896010
128Abnormality of midbrain morphology (HP:0002418)1.99896010
129Dilatation of the ascending aorta (HP:0005111)1.99604011
130Milia (HP:0001056)1.98555721
131Abnormal pancreas size (HP:0012094)1.97667597
132Pustule (HP:0200039)1.97422346
133Hypoplasia of the iris (HP:0007676)1.96498815
134Hepatic necrosis (HP:0002605)1.96460541
135True hermaphroditism (HP:0010459)1.96296382
136Epileptiform EEG discharges (HP:0011182)1.94518230
137Attenuation of retinal blood vessels (HP:0007843)1.94478496
138Blue sclerae (HP:0000592)1.93341362
139Abnormality of proline metabolism (HP:0010907)1.92414429
140Hydroxyprolinuria (HP:0003080)1.92414429
141Delayed gross motor development (HP:0002194)1.92364444
142Tetraparesis (HP:0002273)1.90111445
143Fragile skin (HP:0001030)1.89550202
144Aneurysm (HP:0002617)1.88078861
145Progressive neurologic deterioration (HP:0002344)1.87159376
146Mitochondrial inheritance (HP:0001427)1.86878115
147Hypokinesia (HP:0002375)1.85536974
1483-Methylglutaconic aciduria (HP:0003535)1.84997267
149Hypsarrhythmia (HP:0002521)1.84955188
150Stridor (HP:0010307)1.84919818
151Macroorchidism (HP:0000053)1.84853388
152Bone pain (HP:0002653)1.83044788
153Epiphyseal dysplasia (HP:0002656)1.82653619
154Absent frontal sinuses (HP:0002688)1.82104674
155Episodic fever (HP:0001954)1.82022086
156Muscular hypotonia of the trunk (HP:0008936)1.81972801
157Camptodactyly of toe (HP:0001836)1.80391051
158Orchitis (HP:0100796)1.79694548
159Aplasia/hypoplasia of the uterus (HP:0008684)1.79293152
160Bone cyst (HP:0012062)1.79073371
161Mediastinal lymphadenopathy (HP:0100721)1.78491010
162Increased CSF lactate (HP:0002490)1.77462452
163Focal segmental glomerulosclerosis (HP:0000097)1.75992135
164Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.74762265
165Alopecia of scalp (HP:0002293)1.74677134
166Severe muscular hypotonia (HP:0006829)1.74523480
167Persistence of primary teeth (HP:0006335)1.71517884
168Neonatal short-limb short stature (HP:0008921)1.70923980
169Recurrent skin infections (HP:0001581)1.69946675
170Premature loss of primary teeth (HP:0006323)1.68793518
171Myositis (HP:0100614)1.68444813
172Onycholysis (HP:0001806)1.68325110
173Hepatosplenomegaly (HP:0001433)1.67636382
174Pathologic fracture (HP:0002756)1.67262670
175Ovoid vertebral bodies (HP:0003300)1.66706770
176Progressive visual loss (HP:0000529)1.66567712
177Plantar hyperkeratosis (HP:0007556)1.66392918
178Abnormality of the vasculature of the conjunctiva (HP:0008054)1.66379331
179Abnormality of the distal phalanges of the toes (HP:0010182)1.66270558
180Wormian bones (HP:0002645)1.65524985
181Striae distensae (HP:0001065)1.63462564
182Peripheral demyelination (HP:0011096)1.62638528
183Mutism (HP:0002300)1.62136786
184Basal ganglia calcification (HP:0002135)1.59230589
185Mesangial abnormality (HP:0001966)1.58901767
186Spinal rigidity (HP:0003306)1.58534944
187Amyloidosis (HP:0011034)1.55953410
188Femoral bowing (HP:0002980)1.55059002

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TGFBR24.59761379
2MAP4K23.21062300
3CAMK1D2.51565257
4RIPK12.39000710
5GRK12.37192945
6TYK22.37161726
7EPHB12.33439382
8PHKG12.26915546
9PHKG22.26915546
10MAP3K142.18367954
11ERN12.16391741
12WNK32.01563066
13ADRBK21.97529734
14TBK11.97218002
15EPHA31.92040614
16DDR21.89924462
17CAMK1G1.89316074
18MST1R1.79572123
19JAK11.75558072
20TRIB31.74961831
21PAK31.67138263
22TTN1.67070464
23SIK11.66159045
24BLK1.65398628
25TRPM71.64279056
26GRK71.64004796
27DAPK21.61597408
28EPHB21.59187046
29PDGFRA1.58620332
30RIPK41.57396882
31PTK61.57023181
32ACVR1B1.54125988
33NLK1.52488044
34TIE11.50190391
35NTRK31.50030933
36MAPK151.47755508
37FER1.47243697
38CSK1.36084970
39INSRR1.31483450
40TNIK1.29246172
41IRAK41.28554308
42PRKCE1.26516739
43IRAK31.25626120
44FGFR31.25483992
45PINK11.21943759
46IKBKE1.21721253
47NEK91.21502856
48MET1.20964735
49PLK21.20412947
50PAK41.19076669
51CASK1.18981118
52STK101.18651015
53BMX1.18220396
54FGFR41.18049725
55CSF1R1.15833983
56KIT1.14036965
57PDGFRB1.13450236
58MAP3K121.11846447
59MAP3K31.11694158
60LATS11.11192606
61TRIM281.10521738
62FGR1.10208031
63DMPK1.09657764
64CSNK1G11.09067536
65BMPR21.08596493
66STK38L1.08105937
67IKBKB1.07233943
68MAP3K41.06935993
69MATK1.05225380
70OXSR11.05008797
71FRK1.04663042
72EIF2AK31.02373802
73MAP2K60.99089632
74LRRK20.98709815
75TAOK10.98314328
76LIMK10.98254089
77PRKD30.97256302
78PKN20.96464716
79STK30.96214648
80PBK0.94573945
81MKNK20.93493676
82JAK30.93450158
83MAP3K130.87531512
84CAMK2D0.86692705
85MST40.86691727
86JAK20.85865965
87HCK0.85765121
88PTK20.85053650
89ERBB30.84418743
90PDK20.83780418
91MAP3K20.83697333
92HIPK20.82890587
93CSNK1G20.82019218
94CHUK0.81877028
95NUAK10.80967979
96PIK3CA0.80776953
97GSK3A0.77572758
98EIF2AK10.76910744
99EPHA20.76256519
100CSNK1G30.75423964
101CDK60.74980772
102PTK2B0.73039518
103TGFBR10.71753812
104MOS0.71197840
105MARK30.69148917
106STK390.69041215
107WNK40.68119453
108STK110.67621133
109TNK20.66922439
110PRKCG0.65425833
111EGFR0.62727486
112PRKAA20.62004030
113MUSK0.61526514
114PRKD10.60614948
115IGF1R0.59992435
116PIM20.57073245
117PRKG20.56565215
118ABL10.56556302
119ADRBK10.56444958
120STK40.56267403
121PAK20.55830064
122PIK3CG0.55450280
123YES10.54617933
124PLK30.53838824
125INSR0.52224814
126PRKAA10.51994473
127CAMKK20.50368575
128PRKCI0.50260174
129LMTK20.49008992
130ZAP700.48449712
131RPS6KA40.48397003
132MAPKAPK20.46547485
133FGFR20.46259755
134SRC0.45169394
135MAPK130.44872917
136IRAK10.44186290
137MYLK0.43541564
138RET0.43217949
139MAPK120.42825976
140BMPR1B0.40618934
141PDPK10.40450740
142TAF10.40408842
143MAP2K70.40323745
144PRKCH0.40114744
145STK240.39175927
146MAP2K20.38871661
147AKT30.38857936
148CAMK2A0.38404224
149MAPK70.37858757
150LYN0.37618873
151PRKD20.37565251
152LCK0.37197389
153PRKG10.37049318
154ROCK10.36826284
155CSNK1A1L0.36002609
156MAPKAPK30.34085320
157CSNK1A10.31102051
158ZAK0.29956883
159PRKACA0.29081208
160CDC42BPA0.29061405
161STK160.26927649
162PASK0.24701793
163PRKCA0.24469808
164PRKCZ0.21484877
165OBSCN0.19962078
166PRKCQ0.19957062
167ROCK20.19890229

Predicted pathways (KEGG)

RankGene SetZ-score
1Maturity onset diabetes of the young_Homo sapiens_hsa049506.17989998
2Staphylococcus aureus infection_Homo sapiens_hsa051503.43376254
3Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.09382400
4Protein export_Homo sapiens_hsa030603.03316626
5Sulfur metabolism_Homo sapiens_hsa009202.72646903
6Butanoate metabolism_Homo sapiens_hsa006502.71905323
7Vitamin B6 metabolism_Homo sapiens_hsa007502.55300141
8Insulin secretion_Homo sapiens_hsa049112.51768233
9Glycosaminoglycan degradation_Homo sapiens_hsa005312.43777693
10Collecting duct acid secretion_Homo sapiens_hsa049662.21583475
11Leishmaniasis_Homo sapiens_hsa051402.20475644
12Lysosome_Homo sapiens_hsa041422.19285931
13Other glycan degradation_Homo sapiens_hsa005112.18800436
14Malaria_Homo sapiens_hsa051442.15817000
15Toll-like receptor signaling pathway_Homo sapiens_hsa046202.04069681
16Pertussis_Homo sapiens_hsa051331.99622895
17Folate biosynthesis_Homo sapiens_hsa007901.96898806
18Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.95045473
19Osteoclast differentiation_Homo sapiens_hsa043801.93138742
20ECM-receptor interaction_Homo sapiens_hsa045121.92226020
21Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.79514172
22Selenocompound metabolism_Homo sapiens_hsa004501.73047345
23Type I diabetes mellitus_Homo sapiens_hsa049401.69728779
24Amoebiasis_Homo sapiens_hsa051461.63116016
25Phototransduction_Homo sapiens_hsa047441.62835938
26Oxidative phosphorylation_Homo sapiens_hsa001901.59712173
27SNARE interactions in vesicular transport_Homo sapiens_hsa041301.56936160
28Toxoplasmosis_Homo sapiens_hsa051451.53212250
29AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.53160389
30Tryptophan metabolism_Homo sapiens_hsa003801.52187365
31Tuberculosis_Homo sapiens_hsa051521.48491916
32Phagosome_Homo sapiens_hsa041451.47970114
33Rheumatoid arthritis_Homo sapiens_hsa053231.45741742
34Caffeine metabolism_Homo sapiens_hsa002321.43935963
35Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.43536376
36Focal adhesion_Homo sapiens_hsa045101.42874762
37TNF signaling pathway_Homo sapiens_hsa046681.40359000
38Complement and coagulation cascades_Homo sapiens_hsa046101.39337095
39Adherens junction_Homo sapiens_hsa045201.37323423
40Salmonella infection_Homo sapiens_hsa051321.37058451
41Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.35304207
42Legionellosis_Homo sapiens_hsa051341.32969443
43Leukocyte transendothelial migration_Homo sapiens_hsa046701.32898576
44Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.31763287
45Ether lipid metabolism_Homo sapiens_hsa005651.31368238
46Fatty acid elongation_Homo sapiens_hsa000621.30803342
47Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.30686316
48Peroxisome_Homo sapiens_hsa041461.30135931
49Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.27191571
50NF-kappa B signaling pathway_Homo sapiens_hsa040641.25332687
51Regulation of autophagy_Homo sapiens_hsa041401.22993874
52Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.20368489
53Proteoglycans in cancer_Homo sapiens_hsa052051.15571198
54Propanoate metabolism_Homo sapiens_hsa006401.13901142
55Type II diabetes mellitus_Homo sapiens_hsa049301.12231466
56Influenza A_Homo sapiens_hsa051641.11723575
57Small cell lung cancer_Homo sapiens_hsa052221.10428901
58Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.07480328
59Circadian rhythm_Homo sapiens_hsa047101.06669655
60Vibrio cholerae infection_Homo sapiens_hsa051101.05489130
61Primary bile acid biosynthesis_Homo sapiens_hsa001201.04419898
62Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.03462568
63Renin secretion_Homo sapiens_hsa049241.03072783
64Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.03031064
65Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.01392638
66Measles_Homo sapiens_hsa051621.01334954
67African trypanosomiasis_Homo sapiens_hsa051430.99934470
68Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.98999145
69ABC transporters_Homo sapiens_hsa020100.97902753
70NOD-like receptor signaling pathway_Homo sapiens_hsa046210.96548979
71Mineral absorption_Homo sapiens_hsa049780.95105519
72Chemokine signaling pathway_Homo sapiens_hsa040620.94838929
73Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.94050501
74Synaptic vesicle cycle_Homo sapiens_hsa047210.93815505
75B cell receptor signaling pathway_Homo sapiens_hsa046620.91704071
76Prion diseases_Homo sapiens_hsa050200.91140649
77Pancreatic cancer_Homo sapiens_hsa052120.90797013
78Chronic myeloid leukemia_Homo sapiens_hsa052200.89430626
79Linoleic acid metabolism_Homo sapiens_hsa005910.87635591
80Platelet activation_Homo sapiens_hsa046110.87081845
81RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.86476264
82Viral myocarditis_Homo sapiens_hsa054160.86121936
83Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.85014685
84Hepatitis C_Homo sapiens_hsa051600.83955936
85Apoptosis_Homo sapiens_hsa042100.83047591
86Protein digestion and absorption_Homo sapiens_hsa049740.82996606
87Shigellosis_Homo sapiens_hsa051310.81351939
88Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.80169003
89Regulation of actin cytoskeleton_Homo sapiens_hsa048100.79950012
90Graft-versus-host disease_Homo sapiens_hsa053320.79928463
91Jak-STAT signaling pathway_Homo sapiens_hsa046300.79910815
92Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.79727317
93beta-Alanine metabolism_Homo sapiens_hsa004100.79149256
94TGF-beta signaling pathway_Homo sapiens_hsa043500.78858941
95Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.78403325
96Hematopoietic cell lineage_Homo sapiens_hsa046400.77934949
97Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.77427445
98Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.77189148
99Sphingolipid metabolism_Homo sapiens_hsa006000.76847849
100Circadian entrainment_Homo sapiens_hsa047130.74736210
101Hepatitis B_Homo sapiens_hsa051610.74476981
102PPAR signaling pathway_Homo sapiens_hsa033200.73834953
103Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.73805249
104Retinol metabolism_Homo sapiens_hsa008300.73669335
105Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.73560805
106Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.72670873
107Endocytosis_Homo sapiens_hsa041440.71431826
108alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.70658507
109Adipocytokine signaling pathway_Homo sapiens_hsa049200.69964373
110Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.69527001
111Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.69379274
112Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.69268530
113Ovarian steroidogenesis_Homo sapiens_hsa049130.68999229
114Fatty acid biosynthesis_Homo sapiens_hsa000610.66672241
115Notch signaling pathway_Homo sapiens_hsa043300.66473319
116Insulin resistance_Homo sapiens_hsa049310.65397520
117Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.65345831
118Dilated cardiomyopathy_Homo sapiens_hsa054140.65259623
119Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.65083794
120Fatty acid degradation_Homo sapiens_hsa000710.64587851
121Glucagon signaling pathway_Homo sapiens_hsa049220.64488668
122Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.64121869
123Renal cell carcinoma_Homo sapiens_hsa052110.63977421
124Fatty acid metabolism_Homo sapiens_hsa012120.62631073
125Antigen processing and presentation_Homo sapiens_hsa046120.62005712
126Chemical carcinogenesis_Homo sapiens_hsa052040.61914503
127Serotonergic synapse_Homo sapiens_hsa047260.61603964
128Rap1 signaling pathway_Homo sapiens_hsa040150.60832210
129GABAergic synapse_Homo sapiens_hsa047270.60381528
130Renin-angiotensin system_Homo sapiens_hsa046140.60083344
131Nitrogen metabolism_Homo sapiens_hsa009100.59475370
132Amphetamine addiction_Homo sapiens_hsa050310.59050779
133Salivary secretion_Homo sapiens_hsa049700.58881605
134PI3K-Akt signaling pathway_Homo sapiens_hsa041510.58306494
135Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.58091420
136Dopaminergic synapse_Homo sapiens_hsa047280.57564378
137Glutathione metabolism_Homo sapiens_hsa004800.57235511
138Intestinal immune network for IgA production_Homo sapiens_hsa046720.56642007
139mTOR signaling pathway_Homo sapiens_hsa041500.54952580
140Pancreatic secretion_Homo sapiens_hsa049720.53361547
141Pathways in cancer_Homo sapiens_hsa052000.52831602
142Pentose and glucuronate interconversions_Homo sapiens_hsa000400.52131708
143HIF-1 signaling pathway_Homo sapiens_hsa040660.52035226
144Arachidonic acid metabolism_Homo sapiens_hsa005900.51831191
145Alzheimers disease_Homo sapiens_hsa050100.51688726
146N-Glycan biosynthesis_Homo sapiens_hsa005100.51619357
147Parkinsons disease_Homo sapiens_hsa050120.51477140
148Metabolic pathways_Homo sapiens_hsa011000.51429994
149Dorso-ventral axis formation_Homo sapiens_hsa043200.50786079
150Arginine biosynthesis_Homo sapiens_hsa002200.50401231
151Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.50149480
152Sphingolipid signaling pathway_Homo sapiens_hsa040710.50030732
153Melanoma_Homo sapiens_hsa052180.49239667
154Prostate cancer_Homo sapiens_hsa052150.49077297
155Allograft rejection_Homo sapiens_hsa053300.49046970
156Steroid hormone biosynthesis_Homo sapiens_hsa001400.48756660
157Starch and sucrose metabolism_Homo sapiens_hsa005000.48659663
158MicroRNAs in cancer_Homo sapiens_hsa052060.48202666
159Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.47140522
160Herpes simplex infection_Homo sapiens_hsa051680.46568825
161Glutamatergic synapse_Homo sapiens_hsa047240.45419902
162Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.45382404
163Transcriptional misregulation in cancer_Homo sapiens_hsa052020.45244691
164Prolactin signaling pathway_Homo sapiens_hsa049170.44399499
165Asthma_Homo sapiens_hsa053100.43819354
166Bladder cancer_Homo sapiens_hsa052190.43307628
167Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.41430613
168Vascular smooth muscle contraction_Homo sapiens_hsa042700.40786921
169Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.40026207
170Acute myeloid leukemia_Homo sapiens_hsa052210.39937827
171Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.35725261
172Carbohydrate digestion and absorption_Homo sapiens_hsa049730.34200281
173cGMP-PKG signaling pathway_Homo sapiens_hsa040220.34103204
174Inositol phosphate metabolism_Homo sapiens_hsa005620.33814958
175Morphine addiction_Homo sapiens_hsa050320.33039701
176Cardiac muscle contraction_Homo sapiens_hsa042600.32940782
177Calcium signaling pathway_Homo sapiens_hsa040200.31394102
178Basal transcription factors_Homo sapiens_hsa030220.30728712
179cAMP signaling pathway_Homo sapiens_hsa040240.30690022
180Taste transduction_Homo sapiens_hsa047420.28415631

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