CRYGS

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: Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. This gene encodes a protein initially considered to be a beta-crystallin but the encoded protein is monomeric and has greater sequence similarity to other gamma-crystallins. This gene encodes the most significant gamma-crystallin in adult eye lens tissue. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sensory perception of light stimulus (GO:0050953)9.99866019
2rhodopsin mediated signaling pathway (GO:0016056)9.68453310
3regulation of rhodopsin mediated signaling pathway (GO:0022400)9.65359076
4GMP metabolic process (GO:0046037)8.31113239
5retinal rod cell development (GO:0046548)6.54539413
6photoreceptor cell development (GO:0042461)6.49270902
7camera-type eye development (GO:0043010)6.20431473
8detection of light stimulus involved in sensory perception (GO:0050962)6.04999824
9detection of light stimulus involved in visual perception (GO:0050908)6.04999824
10eye photoreceptor cell development (GO:0042462)5.88919763
11photoreceptor cell maintenance (GO:0045494)5.78099008
12phototransduction (GO:0007602)5.60014866
13phototransduction, visible light (GO:0007603)5.55286550
14detection of light stimulus (GO:0009583)5.28392281
15protein refolding (GO:0042026)5.23550510
16detection of visible light (GO:0009584)5.20805592
17lens morphogenesis in camera-type eye (GO:0002089)5.17330742
18eye development (GO:0001654)4.95870382
19retinal cone cell development (GO:0046549)4.88159974
20protein-chromophore linkage (GO:0018298)4.81381221
21response to muscle activity (GO:0014850)4.80669023
22retina development in camera-type eye (GO:0060041)4.64380102
23sensory perception (GO:0007600)4.60791530
24cellular response to light stimulus (GO:0071482)4.37918407
25protein complex biogenesis (GO:0070271)4.37831492
26respiratory chain complex IV assembly (GO:0008535)4.21830142
27purine nucleobase biosynthetic process (GO:0009113)4.18251431
28muscle cell cellular homeostasis (GO:0046716)4.10485434
29ribosome assembly (GO:0042255)4.09685797
30CDP-diacylglycerol metabolic process (GO:0046341)4.01260270
31lung-associated mesenchyme development (GO:0060484)3.98598791
32cytochrome complex assembly (GO:0017004)3.94353100
33synaptonemal complex assembly (GO:0007130)3.94221801
34mitochondrial respiratory chain complex assembly (GO:0033108)3.92324572
35mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.91427349
36mitochondrial respiratory chain complex I assembly (GO:0032981)3.91427349
37NADH dehydrogenase complex assembly (GO:0010257)3.91427349
38protein-cofactor linkage (GO:0018065)3.90233826
39epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.86347359
40detection of external stimulus (GO:0009581)3.82338478
41water-soluble vitamin biosynthetic process (GO:0042364)3.81112366
42detection of abiotic stimulus (GO:0009582)3.73956657
43establishment of protein localization to mitochondrial membrane (GO:0090151)3.73743938
44histone H3-K9 demethylation (GO:0033169)3.73223221
45nonmotile primary cilium assembly (GO:0035058)3.73191200
46sensory organ development (GO:0007423)3.67850275
47CDP-diacylglycerol biosynthetic process (GO:0016024)3.62980320
48negative regulation of telomere maintenance (GO:0032205)3.62175264
49regulation of clathrin-mediated endocytosis (GO:2000369)3.60471435
50mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.57502979
51regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.55586468
52regulation of protein sumoylation (GO:0033233)3.53787586
53cytolysis (GO:0019835)3.53771043
54energy coupled proton transport, down electrochemical gradient (GO:0015985)3.52648139
55ATP synthesis coupled proton transport (GO:0015986)3.52648139
56mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.50598939
57positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.47878374
58synaptonemal complex organization (GO:0070193)3.44493373
59cellular ketone body metabolic process (GO:0046950)3.42954930
60proteasome assembly (GO:0043248)3.42024123
61nucleobase biosynthetic process (GO:0046112)3.39464103
62axoneme assembly (GO:0035082)3.37971577
63epithelial cilium movement (GO:0003351)3.34986566
64bile acid and bile salt transport (GO:0015721)3.34650708
65S-adenosylmethionine metabolic process (GO:0046500)3.34534637
66folic acid transport (GO:0015884)3.32522707
67regulation of short-term neuronal synaptic plasticity (GO:0048172)3.30966797
68intestinal epithelial cell development (GO:0060576)3.21199547
69response to pheromone (GO:0019236)3.20487672
70piRNA metabolic process (GO:0034587)3.13448891
71protein polyglutamylation (GO:0018095)3.11844537
72chaperone-mediated protein transport (GO:0072321)3.10978936
73regulation of cilium movement (GO:0003352)3.10413422
74respiratory electron transport chain (GO:0022904)3.08542489
75eye photoreceptor cell differentiation (GO:0001754)3.07508309
76photoreceptor cell differentiation (GO:0046530)3.07508309
77cellular response to osmotic stress (GO:0071470)3.06573319
78ketone body metabolic process (GO:1902224)3.05887905
79electron transport chain (GO:0022900)3.05668968
80regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.04577111
81vitamin transmembrane transport (GO:0035461)3.04501803
82transcription elongation from RNA polymerase III promoter (GO:0006385)2.99526611
83termination of RNA polymerase III transcription (GO:0006386)2.99526611
84base-excision repair, AP site formation (GO:0006285)2.99245967
85peptidyl-histidine modification (GO:0018202)2.96751021
86anterograde synaptic vesicle transport (GO:0048490)2.95270331
87protein localization to cilium (GO:0061512)2.91899669
88cellular response to radiation (GO:0071478)2.91285337
89L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.90744901
90folic acid metabolic process (GO:0046655)2.88477375
91regulation of meiosis I (GO:0060631)2.87637425
92negative regulation of mast cell activation (GO:0033004)2.86665837
93regulation of cGMP metabolic process (GO:0030823)2.85253561
94cytidine deamination (GO:0009972)2.82666234
95cytidine metabolic process (GO:0046087)2.82666234
96cytidine catabolic process (GO:0006216)2.82666234
97regulation of guanylate cyclase activity (GO:0031282)2.79512656
98ribosome biogenesis (GO:0042254)2.79339027
99ribosomal small subunit assembly (GO:0000028)2.79333359
100mannosylation (GO:0097502)2.79285138
101L-methionine salvage (GO:0071267)2.78025019
102L-methionine biosynthetic process (GO:0071265)2.78025019
103amino acid salvage (GO:0043102)2.78025019
104platelet dense granule organization (GO:0060155)2.77758034
105ubiquinone biosynthetic process (GO:0006744)2.75399026
106preassembly of GPI anchor in ER membrane (GO:0016254)2.75134067
107negative regulation of macroautophagy (GO:0016242)2.74716086
108adenosine metabolic process (GO:0046085)2.74285338
109positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.73881239
110prenylation (GO:0097354)2.72054586
111protein prenylation (GO:0018342)2.72054586
112seminiferous tubule development (GO:0072520)2.71246890
113tryptophan catabolic process (GO:0006569)2.70831147
114indole-containing compound catabolic process (GO:0042436)2.70831147
115indolalkylamine catabolic process (GO:0046218)2.70831147
116anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.67996761
117cilium movement (GO:0003341)2.67507607
118RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.67468201
119tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.67468201
120inositol phosphate catabolic process (GO:0071545)2.66622194
121left/right axis specification (GO:0070986)2.65864767
122regulation of translational termination (GO:0006449)2.64605357
123mitotic metaphase plate congression (GO:0007080)2.63991872
124regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.63685487
125intraciliary transport (GO:0042073)2.63668491
126mannose metabolic process (GO:0006013)2.63569973
127phosphorylated carbohydrate dephosphorylation (GO:0046838)2.63033043
128inositol phosphate dephosphorylation (GO:0046855)2.63033043
129regulation of ER to Golgi vesicle-mediated transport (GO:0060628)2.62362267
130rRNA modification (GO:0000154)2.62131377
131regulation of mitochondrial translation (GO:0070129)2.62035947
132vitamin A metabolic process (GO:0006776)2.61612187
133regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.61547749
134cullin deneddylation (GO:0010388)2.61140452
135negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.60050027
136positive regulation of guanylate cyclase activity (GO:0031284)2.59356167
137myofibril assembly (GO:0030239)2.59155674
1387-methylguanosine mRNA capping (GO:0006370)2.58492733
139indolalkylamine metabolic process (GO:0006586)2.57024011
140negative regulation of fibroblast apoptotic process (GO:2000270)2.56822979
141regulation of nuclear cell cycle DNA replication (GO:0033262)2.56084196
142somite development (GO:0061053)2.55200477
143synaptic vesicle docking involved in exocytosis (GO:0016081)2.54247777
144meiosis I (GO:0007127)2.53685383
145positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.53520149
146regulation of glucokinase activity (GO:0033131)2.53135088
147regulation of hexokinase activity (GO:1903299)2.53135088
148negative regulation of DNA-dependent DNA replication (GO:2000104)2.52922498
149pseudouridine synthesis (GO:0001522)2.52575285
150regulation of DNA endoreduplication (GO:0032875)2.51971680
151potassium ion homeostasis (GO:0055075)2.51887258
152deoxyribonucleotide catabolic process (GO:0009264)2.51026247
153proton transport (GO:0015992)2.50665638
154hydrogen transport (GO:0006818)2.49825864
155hydrogen ion transmembrane transport (GO:1902600)2.49662851
156pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.49365171
157ubiquinone metabolic process (GO:0006743)2.47215405
158kynurenine metabolic process (GO:0070189)2.46807157
159DNA deamination (GO:0045006)2.46593285
160regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.46356907
161cellular potassium ion homeostasis (GO:0030007)2.46190357
162DNA methylation involved in gamete generation (GO:0043046)2.45156538
163cilium morphogenesis (GO:0060271)2.45070045
164kidney morphogenesis (GO:0060993)2.45017672
165RNA capping (GO:0036260)2.44993198
1667-methylguanosine RNA capping (GO:0009452)2.44993198
167nucleotide transmembrane transport (GO:1901679)2.43914605
168centriole replication (GO:0007099)2.43252196
169nucleoside diphosphate catabolic process (GO:0009134)2.42579324
170sodium ion export (GO:0071436)2.41967108
171blastocyst development (GO:0001824)2.41957687
172regulation of G0 to G1 transition (GO:0070316)2.41741716
173organelle disassembly (GO:1903008)2.41006710
174iron-sulfur cluster assembly (GO:0016226)2.40277716
175metallo-sulfur cluster assembly (GO:0031163)2.40277716
176response to salt stress (GO:0009651)2.38865201
177positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.38018054
178protein deneddylation (GO:0000338)2.37941202
179deoxyribose phosphate catabolic process (GO:0046386)2.37786218
180guanosine-containing compound biosynthetic process (GO:1901070)2.37472292
181negative regulation of protein oligomerization (GO:0032460)2.37005741
182nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.36944929
183L-fucose catabolic process (GO:0042355)2.36925351
184fucose catabolic process (GO:0019317)2.36925351
185L-fucose metabolic process (GO:0042354)2.36925351
186regulation of cellular amino acid metabolic process (GO:0006521)2.35931723
187positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:19021102.35645633
188mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)2.35645633
189synaptic vesicle maturation (GO:0016188)2.34009848
190positive regulation of ligase activity (GO:0051351)2.31359502
191* lens development in camera-type eye (GO:0002088)19.0415879
192lens fiber cell development (GO:0070307)13.6195981
193lens fiber cell differentiation (GO:0070306)10.9881228
194visual perception (GO:0007601)10.1251625

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse6.06205549
2E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse4.96802141
3GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse4.02827549
4ZNF274_21170338_ChIP-Seq_K562_Hela3.78468720
5ZNF263_19887448_ChIP-Seq_K562_Human3.42125502
6MYC_19079543_ChIP-ChIP_MESCs_Mouse3.22533397
7ETS1_20019798_ChIP-Seq_JURKAT_Human2.95783428
8IGF1R_20145208_ChIP-Seq_DFB_Human2.93852994
9CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse2.91317617
10MYC_18555785_ChIP-Seq_MESCs_Mouse2.87579080
11CREB1_15753290_ChIP-ChIP_HEK293T_Human2.78019291
12VDR_22108803_ChIP-Seq_LS180_Human2.64737605
13CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.59811701
14IRF8_22096565_ChIP-ChIP_GC-B_Human2.55291557
15EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.47950534
16MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.44995980
17JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.39512343
18FLI1_27457419_Chip-Seq_LIVER_Mouse2.29260220
19FOXM1_23109430_ChIP-Seq_U2OS_Human2.20823753
20GABP_17652178_ChIP-ChIP_JURKAT_Human2.19205122
21POU3F2_20337985_ChIP-ChIP_501MEL_Human2.18913290
22EST1_17652178_ChIP-ChIP_JURKAT_Human2.15314026
23ZNF652_21678463_ChIP-ChIP_ZR75-1_Human2.13910896
24ZFP57_27257070_Chip-Seq_ESCs_Mouse2.10944882
25KDM5A_27292631_Chip-Seq_BREAST_Human2.10152755
26KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.01715104
27EWS_26573619_Chip-Seq_HEK293_Human2.00415084
28SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.96434263
29MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.93675242
30NOTCH1_21737748_ChIP-Seq_TLL_Human1.92596566
31TAF15_26573619_Chip-Seq_HEK293_Human1.90577714
32PCGF2_27294783_Chip-Seq_ESCs_Mouse1.86455308
33NANOG_16153702_ChIP-ChIP_HESCs_Human1.85867170
34MYC_18358816_ChIP-ChIP_MESCs_Mouse1.84645337
35MYC_19030024_ChIP-ChIP_MESCs_Mouse1.81192444
36POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.81135293
37TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.79148212
38FUS_26573619_Chip-Seq_HEK293_Human1.77977427
39SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.77081677
40GBX2_23144817_ChIP-Seq_PC3_Human1.76742766
41ELK1_19687146_ChIP-ChIP_HELA_Human1.76055543
42P300_19829295_ChIP-Seq_ESCs_Human1.74452205
43ER_23166858_ChIP-Seq_MCF-7_Human1.73606532
44EGR1_19032775_ChIP-ChIP_M12_Human1.71812409
45IKZF1_21737484_ChIP-ChIP_HCT116_Human1.69502775
46IRF8_21731497_ChIP-ChIP_J774_Mouse1.66741968
47CTBP1_25329375_ChIP-Seq_LNCAP_Human1.63771340
48CTBP2_25329375_ChIP-Seq_LNCAP_Human1.60993343
49IRF1_19129219_ChIP-ChIP_H3396_Human1.60626689
50AR_21909140_ChIP-Seq_LNCAP_Human1.60515320
51SRF_21415370_ChIP-Seq_HL-1_Mouse1.58330237
52GABP_19822575_ChIP-Seq_HepG2_Human1.57955097
53TP53_22573176_ChIP-Seq_HFKS_Human1.56918029
54OCT4_19829295_ChIP-Seq_ESCs_Human1.55138215
55ELF1_17652178_ChIP-ChIP_JURKAT_Human1.53962790
56FOXP3_21729870_ChIP-Seq_TREG_Human1.52371031
57IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.47813251
58CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.47491614
59NANOG_19829295_ChIP-Seq_ESCs_Human1.43907383
60SOX2_19829295_ChIP-Seq_ESCs_Human1.43907383
61MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.43880229
62OCT4_18692474_ChIP-Seq_MEFs_Mouse1.42940714
63EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.40772008
64KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.40641261
65TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.39447124
66PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.38911229
67NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.37955599
68PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.36492720
69SA1_27219007_Chip-Seq_Bcells_Human1.36430323
70AR_20517297_ChIP-Seq_VCAP_Human1.33747062
71XRN2_22483619_ChIP-Seq_HELA_Human1.33409955
72NCOR_22424771_ChIP-Seq_293T_Human1.33374987
73SMC4_20622854_ChIP-Seq_HELA_Human1.33272706
74GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.33253204
75CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.32698342
76CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.31882793
77BP1_19119308_ChIP-ChIP_Hs578T_Human1.31502778
78CTCF_27219007_Chip-Seq_Bcells_Human1.30874672
79FOXA1_25329375_ChIP-Seq_VCAP_Human1.29858232
80FOXA1_27270436_Chip-Seq_PROSTATE_Human1.29858232
81NFE2_27457419_Chip-Seq_LIVER_Mouse1.29584101
82FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.27488787
83UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.26381744
84CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.25629344
85EZH2_27294783_Chip-Seq_NPCs_Mouse1.25424793
86HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.25138017
87YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.24692759
88ETV2_25802403_ChIP-Seq_MESCs_Mouse1.24655586
89CBP_20019798_ChIP-Seq_JUKART_Human1.24527770
90IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.24527770
91* P68_20966046_ChIP-Seq_HELA_Human1.24394541
92BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.21018864
93VDR_23849224_ChIP-Seq_CD4+_Human1.20494153
94GATA3_21878914_ChIP-Seq_MCF-7_Human1.19665745
95EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.19602293
96MYCN_18555785_ChIP-Seq_MESCs_Mouse1.17165286
97BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.16991964
98PCGF2_27294783_Chip-Seq_NPCs_Mouse1.16694270
99NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.16641176
100BCAT_22108803_ChIP-Seq_LS180_Human1.16258959
101FOXA1_21572438_ChIP-Seq_LNCaP_Human1.15867188
102REST_18959480_ChIP-ChIP_MESCs_Mouse1.15664247
103E2F1_20622854_ChIP-Seq_HELA_Human1.14735700
104PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.13661609
105AR_25329375_ChIP-Seq_VCAP_Human1.13599718
106NANOG_18555785_ChIP-Seq_MESCs_Mouse1.13248517
107E2F4_17652178_ChIP-ChIP_JURKAT_Human1.12864468
108CIITA_25753668_ChIP-Seq_RAJI_Human1.12549866
109IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.12317883
110CRX_20693478_ChIP-Seq_RETINA_Mouse1.11407984
111PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.10743230
112CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.10665700
113KLF5_20875108_ChIP-Seq_MESCs_Mouse1.09429103
114CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.08987522
115SUZ12_27294783_Chip-Seq_NPCs_Mouse1.08671915
116GATA3_26560356_Chip-Seq_TH2_Human1.08466337
117FOXP1_21924763_ChIP-Seq_HESCs_Human1.08291945
118CTCF_20526341_ChIP-Seq_ESCs_Human1.07169025
119SMAD4_21799915_ChIP-Seq_A2780_Human1.06978205
120PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.06194665
121TCF4_22108803_ChIP-Seq_LS180_Human1.05208438
122MYC_19829295_ChIP-Seq_ESCs_Human1.04947705
123CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.04031478
124RARA_24833708_ChIP-Seq_LIVER_Mouse1.02802034
125SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.02602550
126NELFA_20434984_ChIP-Seq_ESCs_Mouse1.02162532
127MYC_18940864_ChIP-ChIP_HL60_Human1.01546926
128ETV1_20927104_ChIP-Seq_GIST48_Human1.01021153
129SALL1_21062744_ChIP-ChIP_HESCs_Human1.00508860
130TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse1.00166340
131AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.99663234
132ELK1_22589737_ChIP-Seq_MCF10A_Human0.98801779
133THAP11_20581084_ChIP-Seq_MESCs_Mouse0.98774409
134TOP2B_26459242_ChIP-Seq_MCF-7_Human0.97504084
135P53_22127205_ChIP-Seq_FIBROBLAST_Human0.97465262
136RUNX2_22187159_ChIP-Seq_PCA_Human0.97373922
137EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.97265558
138PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.97209311
139* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.96865705
140* STAT3_23295773_ChIP-Seq_U87_Human0.96555368
141TDRD3_21172665_ChIP-Seq_MCF-7_Human0.95942064
142LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.95896451
143AUTS2_25519132_ChIP-Seq_293T-REX_Human0.95770944
144CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.95444360
145SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.95163125
146HTT_18923047_ChIP-ChIP_STHdh_Human0.94939234
147TCF4_23295773_ChIP-Seq_U87_Human0.94938337
148FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.94807560
149POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.94203945
150FOXH1_21741376_ChIP-Seq_EPCs_Human0.93375730
151CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.92181343
152PHF8_20622854_ChIP-Seq_HELA_Human0.90059528
153TCF3_18692474_ChIP-Seq_MEFs_Mouse0.89749535
154POU5F1_18692474_ChIP-Seq_MESCs_Mouse0.88174398
155E2F1_18555785_ChIP-Seq_MESCs_Mouse0.87515238
156KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.87131713
157CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.85597538
158DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.85568253
159YY1_22570637_ChIP-Seq_MALME-3M_Human0.85438764
160NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.84523720
161CHD1_26751641_Chip-Seq_LNCaP_Human0.84024776
162RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.83552464
163DCP1A_22483619_ChIP-Seq_HELA_Human0.83208015
164FLI1_21867929_ChIP-Seq_CD8_Mouse0.82417484
165SOX2_18692474_ChIP-Seq_MEFs_Mouse0.82152046
166CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.81395960
167CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.81185314
168KAP1_27257070_Chip-Seq_ESCs_Mouse0.81004261
169YY1_21170310_ChIP-Seq_MESCs_Mouse0.80823970
170DPY_21335234_ChIP-Seq_ESCs_Mouse0.80228465
171ZFX_18555785_ChIP-Seq_MESCs_Mouse0.80133852
172TTF2_22483619_ChIP-Seq_HELA_Human0.80072496
173NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.79598433
174SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.78086534
175E2F7_22180533_ChIP-Seq_HELA_Human0.77763046
176KLF4_18555785_ChIP-Seq_MESCs_Mouse0.77316981
177RBPJ_21746931_ChIP-Seq_IB4_Human0.76595382
178SOX2_16153702_ChIP-ChIP_HESCs_Human0.75649788

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002697_abnormal_eye_size8.72126922
2MP0003011_delayed_dark_adaptation7.73435593
3MP0005253_abnormal_eye_physiology6.51981875
4MP0005551_abnormal_eye_electrophysiolog5.79509130
5* MP0005193_abnormal_anterior_eye5.40353922
6MP0006072_abnormal_retinal_apoptosis3.88308319
7MP0005391_vision/eye_phenotype3.74788253
8MP0003195_calcinosis3.52853578
9MP0002102_abnormal_ear_morphology3.12091385
10MP0002638_abnormal_pupillary_reflex2.98789278
11MP0002090_abnormal_vision2.92695226
12MP0005195_abnormal_posterior_eye2.82796590
13MP0002837_dystrophic_cardiac_calcinosis2.73806621
14MP0001286_abnormal_eye_development2.55733974
15MP0001324_abnormal_eye_pigmentation2.54141396
16MP0005197_abnormal_uvea_morphology2.41615263
17MP0002138_abnormal_hepatobiliary_system2.39022069
18MP0002092_abnormal_eye_morphology2.33616312
19MP0003787_abnormal_imprinting2.15771663
20MP0005423_abnormal_somatic_nervous2.12097678
21MP0005671_abnormal_response_to2.08516317
22MP0002653_abnormal_ependyma_morphology2.08139855
23MP0003941_abnormal_skin_development2.04146063
24MP0005084_abnormal_gallbladder_morpholo1.94574753
25MP0004142_abnormal_muscle_tone1.88068311
26MP0004147_increased_porphyrin_level1.83320243
27MP0001968_abnormal_touch/_nociception1.77725532
28MP0000749_muscle_degeneration1.75583054
29MP0002229_neurodegeneration1.74911891
30MP0008789_abnormal_olfactory_epithelium1.68287186
31MP0005645_abnormal_hypothalamus_physiol1.61177336
32MP0003123_paternal_imprinting1.49815357
33MP0004019_abnormal_vitamin_homeostasis1.47364972
34MP0003693_abnormal_embryo_hatching1.42427328
35MP0002736_abnormal_nociception_after1.39905670
36MP0003111_abnormal_nucleus_morphology1.39671906
37MP0006292_abnormal_olfactory_placode1.37818224
38MP0008877_abnormal_DNA_methylation1.37166468
39MP0003252_abnormal_bile_duct1.35868612
40MP0001984_abnormal_olfaction1.35370338
41MP0002139_abnormal_hepatobiliary_system1.34986879
42MP0001835_abnormal_antigen_presentation1.34582271
43MP0000569_abnormal_digit_pigmentation1.34357801
44MP0002876_abnormal_thyroid_physiology1.32867761
45MP0006276_abnormal_autonomic_nervous1.28999140
46MP0002822_catalepsy1.26652778
47MP0000631_abnormal_neuroendocrine_gland1.23949149
48MP0008872_abnormal_physiological_respon1.23515136
49MP0001529_abnormal_vocalization1.22962537
50MP0002277_abnormal_respiratory_mucosa1.22704893
51MP0001764_abnormal_homeostasis1.22415327
52MP0006082_CNS_inflammation1.21873759
53MP0001293_anophthalmia1.20141213
54MP0005367_renal/urinary_system_phenotyp1.19704429
55MP0000516_abnormal_urinary_system1.19704429
56MP0005257_abnormal_intraocular_pressure1.19033700
57MP0001790_abnormal_immune_system1.18695624
58MP0005387_immune_system_phenotype1.18695624
59MP0002752_abnormal_somatic_nervous1.17502699
60MP0003718_maternal_effect1.16472481
61MP0009785_altered_susceptibility_to1.16359212
62MP0001485_abnormal_pinna_reflex1.15748925
63MP0003950_abnormal_plasma_membrane1.15697534
64MP0009745_abnormal_behavioral_response1.13805155
65MP0001986_abnormal_taste_sensitivity1.11454516
66MP0001800_abnormal_humoral_immune1.11176461
67MP0001346_abnormal_lacrimal_gland1.08966610
68MP0009764_decreased_sensitivity_to1.08339208
69MP0002132_abnormal_respiratory_system1.07353727
70MP0002751_abnormal_autonomic_nervous1.07181244
71MP0002269_muscular_atrophy1.06689121
72MP0002095_abnormal_skin_pigmentation1.06161529
73MP0000685_abnormal_immune_system1.03947683
74MP0004957_abnormal_blastocyst_morpholog1.02543486
75MP0003186_abnormal_redox_activity1.02081758
76MP0001873_stomach_inflammation1.01709902
77MP0003938_abnormal_ear_development1.01273866
78MP0004885_abnormal_endolymph0.99493221
79MP0000427_abnormal_hair_cycle0.98636924
80MP0005330_cardiomyopathy0.98492758
81MP0002928_abnormal_bile_duct0.97105666
82MP0001501_abnormal_sleep_pattern0.96562504
83MP0001970_abnormal_pain_threshold0.96320223
84MP0002882_abnormal_neuron_morphology0.95077639
85MP0006036_abnormal_mitochondrial_physio0.94499836
86MP0008875_abnormal_xenobiotic_pharmacok0.91072522
87MP0002734_abnormal_mechanical_nocicepti0.90573614
88MP0001661_extended_life_span0.89901497
89MP0002148_abnormal_hypersensitivity_rea0.89541265
90MP0005379_endocrine/exocrine_gland_phen0.89510399
91MP0005174_abnormal_tail_pigmentation0.88751179
92MP0004084_abnormal_cardiac_muscle0.88046199
93MP0008260_abnormal_autophagy0.87337814
94MP0004270_analgesia0.86801744
95MP0004742_abnormal_vestibular_system0.86116108
96MP0002163_abnormal_gland_morphology0.85194887
97MP0009046_muscle_twitch0.84513393
98MP0002693_abnormal_pancreas_physiology0.83213879
99MP0005000_abnormal_immune_tolerance0.82719371
100MP0000049_abnormal_middle_ear0.82706229
101MP0003806_abnormal_nucleotide_metabolis0.81658853
102MP0002723_abnormal_immune_serum0.80256995
103MP0003283_abnormal_digestive_organ0.80200093
104MP0002282_abnormal_trachea_morphology0.76027824
105MP0005085_abnormal_gallbladder_physiolo0.75794290
106MP0005646_abnormal_pituitary_gland0.75493436
107MP0010386_abnormal_urinary_bladder0.74986451
108MP0002420_abnormal_adaptive_immunity0.74934081
109MP0003077_abnormal_cell_cycle0.73678552
110MP0003786_premature_aging0.73116630
111MP0002452_abnormal_antigen_presenting0.72500953
112MP0005386_behavior/neurological_phenoty0.72296958
113MP0004924_abnormal_behavior0.72296958
114MP0001853_heart_inflammation0.71248905
115MP0000689_abnormal_spleen_morphology0.71225283
116MP0005167_abnormal_blood-brain_barrier0.71203778
117MP0001502_abnormal_circadian_rhythm0.68022852
118MP0004859_abnormal_synaptic_plasticity0.67838558
119MP0002108_abnormal_muscle_morphology0.67809907
120MP0001730_embryonic_growth_arrest0.67050721
121MP0005187_abnormal_penis_morphology0.66753396
122MP0000747_muscle_weakness0.61443916
123MP0003879_abnormal_hair_cell0.60873229
124MP0001905_abnormal_dopamine_level0.59800792
125MP0008058_abnormal_DNA_repair0.58579322
126MP0008007_abnormal_cellular_replicative0.57320112
127MP0001486_abnormal_startle_reflex0.56792261
128MP0000465_gastrointestinal_hemorrhage0.56735474
129MP0001929_abnormal_gametogenesis0.55483454
130MP0003635_abnormal_synaptic_transmissio0.54058293
131MP0002272_abnormal_nervous_system0.53825013
132MP0003329_amyloid_beta_deposits0.51491271
133MP0000428_abnormal_craniofacial_morphol0.48807580
134MP0002210_abnormal_sex_determination0.48684434
135MP0009840_abnormal_foam_cell0.47492134
136MP0002127_abnormal_cardiovascular_syste0.47205440
137MP0002064_seizures0.46849816
138MP0008932_abnormal_embryonic_tissue0.46848759
139MP0002184_abnormal_innervation0.45748154
140MP0004036_abnormal_muscle_relaxation0.44523046
141MP0010094_abnormal_chromosome_stability0.44431143
142MP0005248_abnormal_Harderian_gland0.44127083
143MP0001145_abnormal_male_reproductive0.42176852
144MP0005380_embryogenesis_phenotype0.41887173
145MP0001672_abnormal_embryogenesis/_devel0.41887173
146MP0009672_abnormal_birth_weight0.41773681
147MP0003705_abnormal_hypodermis_morpholog0.40473545
148MP0000350_abnormal_cell_proliferation0.40349650
149MP0003634_abnormal_glial_cell0.40111460
150MP0005499_abnormal_olfactory_system0.39527562
151MP0005394_taste/olfaction_phenotype0.39527562
152MP0003878_abnormal_ear_physiology0.39363471
153MP0005377_hearing/vestibular/ear_phenot0.39363471
154MP0004233_abnormal_muscle_weight0.39166318
155MP0003646_muscle_fatigue0.37751486
156MP0000653_abnormal_sex_gland0.37697366
157MP0003984_embryonic_growth_retardation0.36850377
158MP0003698_abnormal_male_reproductive0.36205974
159MP0002152_abnormal_brain_morphology0.35653337
160MP0002088_abnormal_embryonic_growth/wei0.35348345
161MP0009703_decreased_birth_body0.35332423
162MP0001697_abnormal_embryo_size0.33861336
163MP0005395_other_phenotype0.33559882
164MP0002080_prenatal_lethality0.32504427
165MP0002735_abnormal_chemical_nociception0.32109303
166MP0001915_intracranial_hemorrhage0.30702139
167MP0010368_abnormal_lymphatic_system0.30429442
168MP0003880_abnormal_central_pattern0.29260316
169MP0004197_abnormal_fetal_growth/weight/0.27787694
170MP0004145_abnormal_muscle_electrophysio0.27643287
171MP0002063_abnormal_learning/memory/cond0.26915056

Predicted human phenotypes

RankGene SetZ-score
1Congenital stationary night blindness (HP:0007642)7.43174423
2Corneal dystrophy (HP:0001131)6.94779190
3Absent rod-and cone-mediated responses on ERG (HP:0007688)6.34220610
4Congenital cataract (HP:0000519)6.00340424
5Abnormal rod and cone electroretinograms (HP:0008323)5.97517945
6Amblyopia (HP:0000646)5.95209374
7Bony spicule pigmentary retinopathy (HP:0007737)5.70145130
8Central scotoma (HP:0000603)4.92920305
9Pendular nystagmus (HP:0012043)4.78483416
10Posterior subcapsular cataract (HP:0007787)4.38725544
11Chorioretinal atrophy (HP:0000533)4.27483393
12Severe visual impairment (HP:0001141)4.18309592
13Decreased central vision (HP:0007663)4.14896145
14Molar tooth sign on MRI (HP:0002419)4.07836335
15Abnormality of midbrain morphology (HP:0002418)4.07836335
16Scotoma (HP:0000575)4.06089881
17Polar cataract (HP:0010696)4.05760506
18Anterior segment dysgenesis (HP:0007700)3.94243598
19Acute necrotizing encephalopathy (HP:0006965)3.89577986
20Pigmentary retinal degeneration (HP:0001146)3.83119856
21Mitochondrial inheritance (HP:0001427)3.75065968
22Attenuation of retinal blood vessels (HP:0007843)3.70629513
23Abolished electroretinogram (ERG) (HP:0000550)3.67192401
24Progressive macrocephaly (HP:0004481)3.54318959
253-Methylglutaconic aciduria (HP:0003535)3.54189886
26Hepatocellular necrosis (HP:0001404)3.49090156
27Abnormal mitochondria in muscle tissue (HP:0008316)3.43493134
28Microcornea (HP:0000482)3.42770647
29Nephronophthisis (HP:0000090)3.41415464
30Abnormality of macular pigmentation (HP:0008002)3.40626112
31Increased CSF lactate (HP:0002490)3.39954819
32Increased hepatocellular lipid droplets (HP:0006565)3.37844356
33Lipid accumulation in hepatocytes (HP:0006561)3.35220386
34True hermaphroditism (HP:0010459)3.26625512
35Acute encephalopathy (HP:0006846)3.18493963
36Hepatic necrosis (HP:0002605)3.14774560
37Panhypogammaglobulinemia (HP:0003139)3.05141283
38Medial flaring of the eyebrow (HP:0010747)3.04282162
39Zonular cataract (HP:0010920)21.1248317
40Nuclear cataract (HP:0100018)20.6411920
41Macular degeneration (HP:0000608)2.98457665
42Increased corneal curvature (HP:0100692)2.92459752
43Keratoconus (HP:0000563)2.92459752
44Renal Fanconi syndrome (HP:0001994)2.92162017
45Abnormality of the renal medulla (HP:0100957)2.81722860
46Iris coloboma (HP:0000612)2.76772413
47Photophobia (HP:0000613)2.76720454
48Constricted visual fields (HP:0001133)2.74504651
49Abnormality of B cell number (HP:0010975)2.66330221
50Type II diabetes mellitus (HP:0005978)2.64354195
51Methylmalonic acidemia (HP:0002912)2.63261005
52Thyroiditis (HP:0100646)2.54781454
53Nephrogenic diabetes insipidus (HP:0009806)2.54672793
54Colon cancer (HP:0003003)2.54050146
55Abnormal biliary tract physiology (HP:0012439)2.54020605
56Bile duct proliferation (HP:0001408)2.54020605
57Decreased electroretinogram (ERG) amplitude (HP:0000654)2.52210674
58Hyperventilation (HP:0002883)2.52066480
59Clumsiness (HP:0002312)2.49481021
60Methylmalonic aciduria (HP:0012120)2.47715487
61Cerebral edema (HP:0002181)2.45148465
62Subcapsular cataract (HP:0000523)2.43566790
63Gait imbalance (HP:0002141)2.43261134
64Severe combined immunodeficiency (HP:0004430)2.42011472
65Exertional dyspnea (HP:0002875)2.39930465
66Cone-rod dystrophy (HP:0000548)2.38237372
67B lymphocytopenia (HP:0010976)2.34762769
68Opacification of the corneal stroma (HP:0007759)2.31201866
69Abnormality of the renal cortex (HP:0011035)2.29522980
70Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.27371943
71Sclerocornea (HP:0000647)2.25132421
72Increased intramyocellular lipid droplets (HP:0012240)2.18942530
73Aplasia/Hypoplasia of the macula (HP:0008059)2.14435557
74Elevated erythrocyte sedimentation rate (HP:0003565)2.14076822
75Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.12713257
76Anencephaly (HP:0002323)2.12201999
77Dynein arm defect of respiratory motile cilia (HP:0012255)2.12064240
78Absent/shortened dynein arms (HP:0200106)2.12064240
79Abnormality of the labia minora (HP:0012880)2.10819645
80Respiratory difficulties (HP:0002880)2.10132452
81Respiratory failure (HP:0002878)2.08450159
82Abnormality of renal resorption (HP:0011038)2.07933071
83Congenital primary aphakia (HP:0007707)2.07891478
84Eosinophilia (HP:0001880)2.07179493
85Increased serum lactate (HP:0002151)2.06086121
86Renal cortical cysts (HP:0000803)2.02668641
87Cystic liver disease (HP:0006706)2.02450892
88Abnormal drinking behavior (HP:0030082)2.01343808
89Polydipsia (HP:0001959)2.01343808
90Lactic acidosis (HP:0003128)1.98317718
91Abnormality of the prostate (HP:0008775)1.97454035
92Aplasia/Hypoplasia affecting the retina (HP:0008061)1.95540543
93Abnormal respiratory epithelium morphology (HP:0012253)1.93171735
94Abnormal respiratory motile cilium morphology (HP:0005938)1.93171735
95Choroideremia (HP:0001139)1.91983761
96CNS demyelination (HP:0007305)1.91519222
97Increased muscle lipid content (HP:0009058)1.91447575
98Stomach cancer (HP:0012126)1.91352135
99Supernumerary spleens (HP:0009799)1.91163733
100Combined immunodeficiency (HP:0005387)1.89100292
101Progressive microcephaly (HP:0000253)1.85771586
102Progressive visual loss (HP:0000529)1.83329587
103Abnormal number of erythroid precursors (HP:0012131)1.82995896
104Glycosuria (HP:0003076)1.82711530
105Abnormality of urine glucose concentration (HP:0011016)1.82711530
106Congenital hepatic fibrosis (HP:0002612)1.82500902
107Hypoproteinemia (HP:0003075)1.80409733
108Retinitis pigmentosa (HP:0000510)1.80056439
109Vaginal atresia (HP:0000148)1.79223091
110Genital tract atresia (HP:0001827)1.77472232
111Narrow forehead (HP:0000341)1.77111611
112Intestinal atresia (HP:0011100)1.76252698
113Postaxial hand polydactyly (HP:0001162)1.75052227
114Type II lissencephaly (HP:0007260)1.74303042
115Decreased activity of mitochondrial respiratory chain (HP:0008972)1.74205656
116Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.74205656
117Postaxial foot polydactyly (HP:0001830)1.73415949
118Poor head control (HP:0002421)1.72824858
119Chronic sinusitis (HP:0011109)1.72762287
120Granulocytopenia (HP:0001913)1.70761840
121Abnormal respiratory motile cilium physiology (HP:0012261)1.70601814
122Chronic hepatic failure (HP:0100626)1.69589868
123Abnormal ciliary motility (HP:0012262)1.68186844
124Abnormal delayed hypersensitivity skin test (HP:0002963)1.67816209
125Male pseudohermaphroditism (HP:0000037)1.67119846
126Aplasia/Hypoplasia of the tongue (HP:0010295)1.66911014
127Oculomotor apraxia (HP:0000657)1.66526015
128Polyuria (HP:0000103)1.66329485
129Delayed CNS myelination (HP:0002188)1.66099797
130Abnormality of dicarboxylic acid metabolism (HP:0010995)1.65922087
131Dicarboxylic aciduria (HP:0003215)1.65922087
132Aplasia/Hypoplasia of the lens (HP:0008063)1.64398799
133Lethargy (HP:0001254)1.64193331
134Vitreoretinal degeneration (HP:0000655)1.63698246
135Proximal amyotrophy (HP:0007126)1.61429625
136Abnormality of eosinophils (HP:0001879)1.57650954
137Dyschromatopsia (HP:0007641)1.51759586
138Muscle fiber splitting (HP:0003555)1.46245083
139Fetal akinesia sequence (HP:0001989)1.46232273
140Hypoplasia of the fovea (HP:0007750)1.43101784
141Aplasia/Hypoplasia of the fovea (HP:0008060)1.43101784
142Hypoplastic nipples (HP:0002557)1.41975737
143Abnormality of the anterior chamber (HP:0000593)1.41512425
144Hyperglycinemia (HP:0002154)1.37572021
145Cerebral hypomyelination (HP:0006808)1.37546828
146Aplasia/Hypoplasia involving the musculature (HP:0001460)1.32870393
147Patellar aplasia (HP:0006443)1.32662726
148Abnormality of the fovea (HP:0000493)1.31113600
149Aplasia/Hypoplasia of the patella (HP:0006498)1.29255893
150Aplasia of the musculature (HP:0100854)1.23713444
151Breast hypoplasia (HP:0003187)1.21017251
152Abnormality of the lower motor neuron (HP:0002366)1.19906159
153Oligodactyly (hands) (HP:0001180)1.19754152
154Wide nasal bridge (HP:0000431)1.17861766
155Submucous cleft hard palate (HP:0000176)1.13453245
156Pancreatic fibrosis (HP:0100732)1.09356242
157Abnormality of the shoulder girdle musculature (HP:0001435)1.08889648
158Amniotic constriction ring (HP:0009775)1.08155467
159Abnormality of placental membranes (HP:0011409)1.08155467
160Fused cervical vertebrae (HP:0002949)1.07713995
161Scapular winging (HP:0003691)1.05993703
162Ventricular fibrillation (HP:0001663)1.05642846
163Chorioretinal coloboma (HP:0000567)1.03908335
164Hyperglycinuria (HP:0003108)1.02564445
165Birth length less than 3rd percentile (HP:0003561)0.99700122
166Tetraplegia (HP:0002445)0.97526342
167Split foot (HP:0001839)0.97440655
168Impulsivity (HP:0100710)0.96382975
169Optic disc pallor (HP:0000543)0.95608326
170Visual hallucinations (HP:0002367)0.95317114
171Carpal bone hypoplasia (HP:0001498)0.94172616
172Delusions (HP:0000746)0.92363331
173CNS hypomyelination (HP:0003429)0.91991689
174Oligodactyly (HP:0012165)0.89951538
175Popliteal pterygium (HP:0009756)0.89143003
176Rough bone trabeculation (HP:0100670)0.87917749
177Aplasia/Hypoplasia involving the carpal bones (HP:0006502)0.87427419
178Pancreatic cysts (HP:0001737)0.85103342
179Congenital sensorineural hearing impairment (HP:0008527)0.84703707
180Leukocytosis (HP:0001974)0.83945471
181Gout (HP:0001997)0.83296917
182Retinal atrophy (HP:0001105)0.82156860
183Long clavicles (HP:0000890)0.81704886
184Symphalangism affecting the phalanges of the hand (HP:0009773)0.79933256
185Akinesia (HP:0002304)0.78798178
186Multiple enchondromatosis (HP:0005701)0.77037541
187Abnormality of serine family amino acid metabolism (HP:0010894)0.77012867
188Abnormality of glycine metabolism (HP:0010895)0.77012867

Predicted kinase interactions (KEA)

RankGene SetZ-score
1GRK15.97631379
2PINK14.30277117
3BUB14.26929781
4PNCK4.22737773
5FRK3.79909870
6WEE13.18347665
7TXK2.98553040
8MAP4K22.98075757
9MAP2K62.86356664
10AKT32.63011345
11CASK2.60776980
12WNK32.52248708
13TAOK32.38982163
14MAPK132.37599225
15BMPR1B2.36053655
16EPHA22.33074221
17NEK12.29421013
18PLK42.28631947
19NEK22.20501628
20TRIM282.11805997
21NUAK12.11342245
22SRPK12.10532991
23SGK12.09298283
24ADRBK21.99009729
25IRAK21.94724512
26PLK31.90865689
27MARK11.86138948
28TLK11.85455627
29MAP3K101.69121552
30TSSK61.63078859
31MAP4K11.44547280
32KIT1.41280639
33PLK11.39756763
34NME11.39113500
35TTK1.36583914
36TAF11.36474977
37ACVR1B1.34600465
38MAP2K71.32158564
39VRK21.30685362
40TEC1.28884728
41TNIK1.26938891
42PRKCB1.25022790
43CSNK1G11.20561423
44PRKG11.15789527
45PAK61.11817269
46MKNK21.11343434
47BRSK11.10947497
48VRK11.08968769
49PRKCQ1.08681890
50MAPK101.08323679
51BCR1.06848250
52BRSK21.06409579
53EIF2AK11.06337758
54STK38L1.05707157
55ITK1.03677979
56STK381.02690146
57ALK1.02155421
58IRAK31.01769287
59NTRK11.00901671
60ERBB21.00289926
61PRKCE0.98506782
62BLK0.98305910
63GRK50.96290878
64PLK20.94769362
65SCYL20.93205518
66SYK0.92763312
67LATS20.91298877
68ZAK0.91164365
69CDC70.90550325
70PRKCI0.82298428
71DAPK20.82206157
72CSF1R0.80138597
73CSNK1E0.78869493
74TNK20.78256117
75MAP3K90.77396445
76WNK40.77256478
77DYRK30.76732032
78FES0.76281904
79TGFBR10.74848999
80IKBKB0.74276141
81LYN0.73972330
82ERBB30.73895181
83PASK0.73889144
84MAP3K140.73074686
85STK160.72456673
86ARAF0.71879458
87NTRK30.71017625
88STK390.70842672
89CDK10.70675817
90CHEK10.70587208
91RPS6KA30.69710725
92ADRBK10.69241396
93PRKACB0.69209560
94PAK30.68968828
95STK240.68672180
96AURKA0.68612417
97EIF2AK30.67995029
98KDR0.65668042
99ICK0.65182479
100NME20.64943541
101CDK120.64344893
102BCKDK0.63854132
103MKNK10.63802616
104CSNK2A20.62708890
105OXSR10.61772831
106TESK20.61695981
107CCNB10.60125676
108GRK70.60105981
109PRKCG0.59900424
110CAMKK10.58989255
111CSNK1A10.58541089
112BTK0.58518777
113PKN10.58286029
114PDK30.57031996
115PDK40.57031996
116CDK20.55624807
117CAMK1G0.55344334
118LCK0.53484050
119SIK10.53187430
120IRAK40.53086529
121EPHA40.52147333
122NLK0.52078464
123TAOK10.51882591
124CHEK20.51472197
125PAK40.51125321
126PRKAA10.49777815
127MAPKAPK30.48744769
128INSRR0.46422742
129MST40.46420084
130PRKACA0.46304321
131PTK2B0.45771718
132CSNK1D0.45365121
133DYRK20.45180965
134CSNK2A10.44216318
135CSNK1A1L0.43386173
136PRKACG0.43218752
137BRD40.42412744
138AURKB0.42284986
139LATS10.41716196
140FGR0.40675021
141CDK40.40423028
142MAP3K70.38445953
143CAMKK20.38353761
144PRKCH0.37887866
145DYRK1A0.37629162
146ABL10.37417928
147FLT30.37310899
148FGFR20.36989150
149CSNK1G30.36682249
150MAP3K40.36409149
151PRKCA0.35852633
152BRAF0.35800652
153PRKCZ0.34782171
154PRKDC0.34535458
155CAMK10.34525752
156PRKD20.34003857
157GSK3B0.33051592
158SIK30.32763433
159UHMK10.32318580
160IGF1R0.31479732
161ATR0.31442845
162MAPK90.29383043
163RPS6KA40.28975125
164ATM0.28823139
165CSNK1G20.28055112
166WNK10.26834600
167CDK140.26471700

Predicted pathways (KEGG)

RankGene SetZ-score
1Vitamin B6 metabolism_Homo sapiens_hsa007503.73667259
2Oxidative phosphorylation_Homo sapiens_hsa001903.59291246
3Proteasome_Homo sapiens_hsa030503.21517477
4RNA polymerase_Homo sapiens_hsa030203.06923287
5Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001303.01143057
6Protein export_Homo sapiens_hsa030602.88276343
7Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.81364482
8Parkinsons disease_Homo sapiens_hsa050122.74850958
9Asthma_Homo sapiens_hsa053102.52095916
10Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.37771590
11Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.34583897
12Type I diabetes mellitus_Homo sapiens_hsa049402.26203610
13Homologous recombination_Homo sapiens_hsa034402.21905901
14Autoimmune thyroid disease_Homo sapiens_hsa053202.19580498
15Nitrogen metabolism_Homo sapiens_hsa009102.17866257
16Synaptic vesicle cycle_Homo sapiens_hsa047212.16137613
17Allograft rejection_Homo sapiens_hsa053302.13907954
18Primary immunodeficiency_Homo sapiens_hsa053402.06591412
19Phototransduction_Homo sapiens_hsa0474411.9111314
20RNA transport_Homo sapiens_hsa030131.96235685
21Graft-versus-host disease_Homo sapiens_hsa053321.95466457
22Intestinal immune network for IgA production_Homo sapiens_hsa046721.94830862
23Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.74896863
24Alzheimers disease_Homo sapiens_hsa050101.64506958
25Spliceosome_Homo sapiens_hsa030401.61945632
26Rheumatoid arthritis_Homo sapiens_hsa053231.43983774
27Butanoate metabolism_Homo sapiens_hsa006501.43141351
28Fanconi anemia pathway_Homo sapiens_hsa034601.42135303
29Peroxisome_Homo sapiens_hsa041461.38225413
30Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.37464306
31Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.34566943
32Pyrimidine metabolism_Homo sapiens_hsa002401.32346755
33Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.32317431
34Purine metabolism_Homo sapiens_hsa002301.26938276
35Staphylococcus aureus infection_Homo sapiens_hsa051501.23500613
36Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.23459713
37Regulation of autophagy_Homo sapiens_hsa041401.22361566
38Non-homologous end-joining_Homo sapiens_hsa034501.20960094
39GABAergic synapse_Homo sapiens_hsa047271.19663927
40Propanoate metabolism_Homo sapiens_hsa006401.18928879
41Ether lipid metabolism_Homo sapiens_hsa005651.18453616
42Primary bile acid biosynthesis_Homo sapiens_hsa001201.18313094
43Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.17551270
44Glycerophospholipid metabolism_Homo sapiens_hsa005641.15120252
45Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.13795623
46Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.11829022
47Oocyte meiosis_Homo sapiens_hsa041141.08288993
48Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.07904636
49Circadian rhythm_Homo sapiens_hsa047101.07356894
50mRNA surveillance pathway_Homo sapiens_hsa030151.06882062
51Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.06390996
52Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.06297249
53Pentose phosphate pathway_Homo sapiens_hsa000301.02471285
54Base excision repair_Homo sapiens_hsa034101.00055659
55Cell cycle_Homo sapiens_hsa041100.99150799
56Fructose and mannose metabolism_Homo sapiens_hsa000510.98346650
57Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.95996820
58Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.95805663
59Basal transcription factors_Homo sapiens_hsa030220.93839462
60Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.92859337
61Antigen processing and presentation_Homo sapiens_hsa046120.90063245
62Caffeine metabolism_Homo sapiens_hsa002320.90007516
63Cysteine and methionine metabolism_Homo sapiens_hsa002700.89441062
64Hematopoietic cell lineage_Homo sapiens_hsa046400.87430361
65Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.87203493
66DNA replication_Homo sapiens_hsa030300.86411035
67mTOR signaling pathway_Homo sapiens_hsa041500.83221327
68Biosynthesis of amino acids_Homo sapiens_hsa012300.82695027
69Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.81656764
70Taste transduction_Homo sapiens_hsa047420.81474137
71Tryptophan metabolism_Homo sapiens_hsa003800.80793631
72Olfactory transduction_Homo sapiens_hsa047400.79060930
73Ribosome_Homo sapiens_hsa030100.78260103
74Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.76615687
75Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.75286026
76Drug metabolism - other enzymes_Homo sapiens_hsa009830.74243491
77Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.74097346
78Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.73194801
79Selenocompound metabolism_Homo sapiens_hsa004500.71560198
80Chemical carcinogenesis_Homo sapiens_hsa052040.68280135
81Retinol metabolism_Homo sapiens_hsa008300.66498821
82Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.66425812
83RNA degradation_Homo sapiens_hsa030180.66238196
84Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.66176013
85Epstein-Barr virus infection_Homo sapiens_hsa051690.61601045
86Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.60255250
87Nicotine addiction_Homo sapiens_hsa050330.58570155
88One carbon pool by folate_Homo sapiens_hsa006700.58231534
89Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.57601212
90Folate biosynthesis_Homo sapiens_hsa007900.57436561
91Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.57217953
92Arachidonic acid metabolism_Homo sapiens_hsa005900.56517655
93Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.56142295
94Nucleotide excision repair_Homo sapiens_hsa034200.55838739
95Circadian entrainment_Homo sapiens_hsa047130.54021981
96Cardiac muscle contraction_Homo sapiens_hsa042600.53559276
97NOD-like receptor signaling pathway_Homo sapiens_hsa046210.53201641
98Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.52486146
99Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.52344190
100Vitamin digestion and absorption_Homo sapiens_hsa049770.52298584
101Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.51358377
102Fatty acid elongation_Homo sapiens_hsa000620.51045896
103ABC transporters_Homo sapiens_hsa020100.50814830
104Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.50685881
105Glutamatergic synapse_Homo sapiens_hsa047240.50447201
106Glycerolipid metabolism_Homo sapiens_hsa005610.49737481
107Collecting duct acid secretion_Homo sapiens_hsa049660.49446439
108Longevity regulating pathway - mammal_Homo sapiens_hsa042110.49317866
109Thyroid hormone signaling pathway_Homo sapiens_hsa049190.46837347
110Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.46131078
111Viral myocarditis_Homo sapiens_hsa054160.45568934
112Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.44157135
113Insulin secretion_Homo sapiens_hsa049110.42219850
114Tight junction_Homo sapiens_hsa045300.40432546
115Fatty acid metabolism_Homo sapiens_hsa012120.39629714
116Arginine biosynthesis_Homo sapiens_hsa002200.39599027
117Cholinergic synapse_Homo sapiens_hsa047250.39187968
118Mismatch repair_Homo sapiens_hsa034300.37987109
119NF-kappa B signaling pathway_Homo sapiens_hsa040640.37768460
120p53 signaling pathway_Homo sapiens_hsa041150.36958947
121Fatty acid degradation_Homo sapiens_hsa000710.36725330
122Steroid hormone biosynthesis_Homo sapiens_hsa001400.36039786
123Herpes simplex infection_Homo sapiens_hsa051680.34639358
124Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.34029276
125Carbon metabolism_Homo sapiens_hsa012000.32536829
126beta-Alanine metabolism_Homo sapiens_hsa004100.31628172
127Inositol phosphate metabolism_Homo sapiens_hsa005620.30302947
128Small cell lung cancer_Homo sapiens_hsa052220.30055704
129Linoleic acid metabolism_Homo sapiens_hsa005910.29298991
130Hippo signaling pathway_Homo sapiens_hsa043900.29105583
1312-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.28192381
132Leishmaniasis_Homo sapiens_hsa051400.27385449
133Mineral absorption_Homo sapiens_hsa049780.26942639
134Central carbon metabolism in cancer_Homo sapiens_hsa052300.26718066
135Dopaminergic synapse_Homo sapiens_hsa047280.26233667
136HIF-1 signaling pathway_Homo sapiens_hsa040660.24573626
137Huntingtons disease_Homo sapiens_hsa050160.24307087
138Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.24031657
139Oxytocin signaling pathway_Homo sapiens_hsa049210.23849982
140Bile secretion_Homo sapiens_hsa049760.23421544
141Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.23360818
142Renal cell carcinoma_Homo sapiens_hsa052110.23105867
143Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.22344430
144Maturity onset diabetes of the young_Homo sapiens_hsa049500.22202567
145Morphine addiction_Homo sapiens_hsa050320.21694080
146Hedgehog signaling pathway_Homo sapiens_hsa043400.21618671
147cGMP-PKG signaling pathway_Homo sapiens_hsa040220.20952464
148Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.18475380
149Amphetamine addiction_Homo sapiens_hsa050310.17841598
150AMPK signaling pathway_Homo sapiens_hsa041520.17645421
151alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.16671931
152Long-term potentiation_Homo sapiens_hsa047200.15461026
153Aldosterone synthesis and secretion_Homo sapiens_hsa049250.15291923
154SNARE interactions in vesicular transport_Homo sapiens_hsa041300.14864987
155Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.14541120
156Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.14335176
157Metabolic pathways_Homo sapiens_hsa011000.14300168
158Salivary secretion_Homo sapiens_hsa049700.13475953
159Insulin signaling pathway_Homo sapiens_hsa049100.11934212
160Vibrio cholerae infection_Homo sapiens_hsa051100.11851231
161FoxO signaling pathway_Homo sapiens_hsa040680.11836041
162Dilated cardiomyopathy_Homo sapiens_hsa054140.11706030
163Carbohydrate digestion and absorption_Homo sapiens_hsa049730.11578368

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