Human disease genes 605169-605289

605053-605168 --- 605290-605410

OMIM ID: disease or gene description Ensembl Peptide ID OrthoMCL Family Jaccard Coefficient Cluster
605169: OMIM gene: E74-LIKE FACTOR 5; ELF5 Gene map locus 11p15-p13 (link from Ensembl BioMart) ENSP00000311010 ORTHOMCL11913 jaccard_351
ENSP00000257832 ORTHOMCL11913 jaccard_351
605170: OMIM gene: p53-INDUCED GENE 8 Gene map locus 11q23 (link from Ensembl BioMart) ENSP00000278903 ORTHOMCL10006 jaccard_5975
605171: OMIM gene: p53-INDUCED GENE 3 Gene map locus 2p (link from Ensembl BioMart) ENSP00000238721 ORTHOMCL4255 jaccard_80
ENSP00000311769 ORTHOMCL4255 jaccard_80
ENSP00000337834 ORTHOMCL4255 jaccard_80
605172: OMIM gene: PROSTAGLANDIN E SYNTHASE; PTGES Gene map locus 9q34.3 (link from Ensembl BioMart) ENSP00000277476 ORTHOMCL14440 jaccard_9006
ENSP00000342385 ORTHOMCL11617 jaccard_1799
605173: OMIM gene: ECTODERMAL-NEURAL CORTEX 1; ENC1 Gene map locus 5q13 (link from Ensembl BioMart) ENSP00000306356 ORTHOMCL16455 jaccard_49
605174: OMIM gene: A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 1; ADAMTS1 Gene map locus 21q21.2 (link from Ensembl BioMart) ENSP00000284984 ORTHOMCL1121 jaccard_41
605176: OMIM gene: HYDROXYACID OXIDASE 2; HAO2 Gene map locus Chr.1 (link from Ensembl BioMart) ENSP00000316339 ORTHOMCL10793 jaccard_1413
ENSP00000354314 ORTHOMCL10793 jaccard_1413
605178: OMIM gene: GROWTH ARREST-SPECIFIC 11; GAS11 Gene map locus 16q24.3 (link from Ensembl BioMart) ENSP00000268699 ORTHOMCL6072 jaccard_5670
605179: OMIM gene: CHROMOSOME 16 OPEN READING FRAME 3; C16ORF3 Gene map locus 16q24.3 (link from Ensembl BioMart) ENSP00000333771
605180: OMIM gene: SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 2; SLC38A2 Gene map locus Chr.12 (link from Ensembl BioMart) ENSP00000256689 ORTHOMCL12250 jaccard_79
605181: OMIM gene: TRANSMEMBRANE 7 SUPERFAMILY, MEMBER 3 Gene map locus 12q11-q12 (link from Ensembl BioMart) ENSP00000342322 ORTHOMCL12842 jaccard_7399
605182: OMIM gene: RAS p21 PROTEIN ACTIVATOR 3 Gene map locus Chr.13 (link from Ensembl BioMart) ENSP00000335029 ORTHOMCL5245 jaccard_1415
605183: OMIM gene: CALMODULIN-LIKE 5; CALML5 (link from Ensembl BioMart) ENSP00000315372 jaccard_16
605184: OMIM gene: POLYADENYLATE-BINDING PROTEIN-INTERACTING PROTEIN 1 (link from Ensembl BioMart) ENSP00000339622 ORTHOMCL14201 jaccard_4555
ENSP00000302768 ORTHOMCL12974 jaccard_4555
605185: OMIM gene: DELTA-LIKE 4; DLL4 Gene map locus 15q21.1 (link from Ensembl BioMart) ENSP00000249749 ORTHOMCL10829 jaccard_5
605186: OMIM gene: WNT INHIBITORY FACTOR 1; WIF1 Gene map locus Chr.12 (link from Ensembl BioMart) ENSP00000286574 ORTHOMCL12176 jaccard_11924
605187: OMIM gene: G PROTEIN-COUPLED RECEPTOR 27; GPR27 Gene map locus 3p21-p14 (link from Ensembl BioMart) ENSP00000303149 jaccard_19
605188: OMIM gene: G PROTEIN-COUPLED RECEPTOR 85; GPR85 Gene map locus 7q31 (link from Ensembl BioMart) ENSP00000297146 ORTHOMCL10940 jaccard_19
605189: OMIM gene: DICKKOPF, XENOPUS, HOMOLOG OF, 1; DKK1 Gene map locus 10q11.2 (link from Ensembl BioMart) ENSP00000224974 ORTHOMCL17082 jaccard_3698
605190: OMIM gene: TRANSLOCATION-ASSOCIATING MEMBRANE PROTEIN 1; TRAM1 Gene map locus Chr.8 (link from Ensembl BioMart) ENSP00000262213 ORTHOMCL3245 jaccard_365
605191: OMIM gene: BTAF1 RNA POLYMERASE II, B-TFIID TRANSCRIPTION FACTOR-ASSOCIATED, 170-KD; BTAF1 Gene map locus 10q22-q23 (link from Ensembl BioMart) ENSP00000265990 ORTHOMCL6249 jaccard_5918
605193: OMIM gene: RAS HOMOLOG GENE FAMILY, MEMBER I; ARHI Gene map locus 1p31 (link from Ensembl BioMart) ENSP00000294603 jaccard_8
605194: OMIM gene: CRYPTIC PROTEIN; CFC1 Gene map locus 2q21.1 (link from Ensembl BioMart) ENSP00000259216 ORTHOMCL16428 jaccard_2867
605196: OMIM gene: COQ3, S. CEREVISIAE, HOMOLOG OF; COQ3 (link from Ensembl BioMart) ENSP00000254759 ORTHOMCL5131 jaccard_4393
605197: OMIM gene: KYNURENINASE; KYNU (link from Ensembl BioMart) ENSP00000264170 ORTHOMCL9924 jaccard_5010
605198: OMIM gene: POLYMERASE, DNA, SIGMA; POLS Gene map locus 5p15 (link from Ensembl BioMart) ENSP00000230859 ORTHOMCL1145 jaccard_1672
605199: OMIM gene: SPLICING FACTOR, PROLINE- AND GLUTAMINE-RICH; SFPQ SFPQ/TFE3 FUSION GENE, INCLUDED Gene map locus 1p34 (link from Ensembl BioMart) ENSP00000263532 ORTHOMCL1618 jaccard_9535
ENSP00000349748 ORTHOMCL1618 jaccard_9535
605200: OMIM gene: HECT DOMAIN AND RCC1-LIKE DOMAIN 3; HERC3 (link from Ensembl BioMart) ENSP00000264345 ORTHOMCL423 jaccard_437
605202: OMIM gene: N-ACETYLNEURAMINIC ACID PHOSPHATE SYNTHASE; NANS Gene map locus Chr.9 (link from Ensembl BioMart) ENSP00000210444 ORTHOMCL12232 jaccard_5366
605204: OMIM gene: TORSIN-A; DYT1 Gene map locus 9q34 (link from Ensembl BioMart) ENSP00000345719 ORTHOMCL1025 jaccard_724
605205: OMIM gene: ADENYLYL CYCLASE, SOLUBLE Gene map locus 1q24 (link from Ensembl BioMart) ENSP00000355401 ORTHOMCL12425 jaccard_4296
605206: OMIM gene: HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED POTASSIUM CHANNEL 4; HCN4 Gene map locus 15q24-q25 (link from Ensembl BioMart) ENSP00000261917 ORTHOMCL3937 jaccard_10035
605207: OMIM gene: CYTOCHROME P450, SUBFAMILY XXVIB, POLYPEPTIDE 1; CYP26B1 (link from Ensembl BioMart) ENSP00000001146 ORTHOMCL147 jaccard_9
605208: OMIM gene: SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER 7; SLC17A7 Gene map locus 19q13 (link from Ensembl BioMart) ENSP00000221485 ORTHOMCL7275 jaccard_87
605209: OMIM gene: CHECKPOINT PROTEIN WITH FHA AND RING FINGER DOMAINS; CHFR (link from Ensembl BioMart) ENSP00000320557 ORTHOMCL9273 jaccard_5936
ENSP00000266880 ORTHOMCL9273 jaccard_5936
605210: OMIM gene: DISRUPTED IN SCHIZOPHRENIA 1; DISC1 Gene map locus 1q42.1 (link from Ensembl BioMart) ENSP00000320784
605211: OMIM gene: BARH-LIKE 1; BARHL1 Gene map locus 9q34 (link from Ensembl BioMart) ENSP00000263610 ORTHOMCL6226 jaccard_9167
605212: OMIM gene: BARH-LIKE 2; BARHL2 (link from Ensembl BioMart) ENSP00000271223 ORTHOMCL9391 jaccard_11743
605213: OMIM gene: 3-@PHOSPHOINOSITIDE-DEPENDENT PROTEIN KINASE 1; PDPK1 Gene map locus 16p13.3 (link from Ensembl BioMart) ENSP00000344220 ORTHOMCL849 jaccard_29
ENSP00000268673
605214: OMIM gene: POTASSIUM CHANNEL, CALCIUM-ACTIVATED, LARGE CONDUCTANCE, SUBFAMILY M, BETA MEMBER 2; KCNMB2 (link from Ensembl BioMart) ENSP00000351068 ORTHOMCL10035 jaccard_1874
605215: OMIM gene: SKAP55-RELATED PROTEIN Gene map locus 7p21-p15 (link from Ensembl BioMart) ENSP00000005587 ORTHOMCL12955 jaccard_4517
605216: OMIM gene: RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 4; ARHGEF4 (link from Ensembl BioMart) ENSP00000316845 ORTHOMCL1891 jaccard_55
605217: OMIM gene: SHC TRANSFORMING PROTEIN 2; SHC2 (link from Ensembl BioMart) ENSP00000264554 ORTHOMCL4713 jaccard_1184
605219: OMIM gene: SECOND MITOCHONDRIA-DERIVED ACTIVATOR OF CASPASE Gene map locus Chr.12 (link from Ensembl BioMart) ENSP00000267169 ORTHOMCL13269 jaccard_4057
ENSP00000320343 jaccard_4057
ENSP00000339963 ORTHOMCL20771 jaccard_4057
605220: OMIM gene: APOLIPOPROTEIN B48 RECEPTOR Gene map locus 16p11.2 (link from Ensembl BioMart) ENSP00000327669 ORTHOMCL19904
605221: OMIM gene: FUS-INTERACTING PROTEIN 1; FUSIP1 TLS-ASSOCIATED PROTEIN WITH SERINE-ARGININE REPEATS, ISOFORM 1, INCLUDED; TASR1, INCLUDED Gene map locus 1p36.1 (link from Ensembl BioMart) ENSP00000340764 ORTHOMCL15558 jaccard_0
605222: OMIM gene: POTASSIUM CHANNEL, CALCIUM-ACTIVATED, LARGE CONDUCTANCE, SUBFAMILY M, BETA MEMBER 3; KCNMB3 Gene map locus 3q26.3-q27.1 (link from Ensembl BioMart) ENSP00000327866 ORTHOMCL9877 jaccard_1874
ENSP00000319370 ORTHOMCL9877 jaccard_1874
605223: OMIM gene: POTASSIUM CHANNEL, CALCIUM-ACTIVATED, LARGE CONDUCTANCE, SUBFAMILY M, BETA MEMBER 4; KCNMB4 Gene map locus 12q14.1-q15 (link from Ensembl BioMart) ENSP00000258111 ORTHOMCL22340 jaccard_1874
605224: OMIM gene: RHODOPSIN HOMOLOG, RETINAL PIGMENT EPITHELIUM-DERIVED; RRH Gene map locus 4q (link from Ensembl BioMart) ENSP00000314992 ORTHOMCL12868 jaccard_6
605226: OMIM gene: RE REPEATS-ENCODING GENE; RERE Gene map locus 1p36.2-p36.1 (link from Ensembl BioMart) ENSP00000325031 ORTHOMCL1019 jaccard_10066
ENSP00000338629 ORTHOMCL1019 jaccard_5563
605227: OMIM gene: REVERSION-INDUCING CYSTEINE-RICH PROTEIN WITH KAZAL MOTIFS; RECK Gene map locus 9p13-p12 (link from Ensembl BioMart) ENSP00000242287 ORTHOMCL11132 jaccard_7130
605228: OMIM gene: CBF1-INTERACTING COREPRESSOR (link from Ensembl BioMart) ENSP00000339723 ORTHOMCL4132 jaccard_3282
605230: OMIM gene: TUMOR PROTEIN p53-BINDING PROTEIN 1; TP53BP1 Gene map locus 15q15-q21 (link from Ensembl BioMart) ENSP00000263801 ORTHOMCL10660
605232: OMIM gene: PROTEIN KINASE, LYSINE-DEFICIENT 1; WNK1 Gene map locus 12p13 (link from Ensembl BioMart) ENSP00000313059 ORTHOMCL203 jaccard_4843
605234: OMIM gene: VOMERONASAL 1 RECEPTOR 1; VN1R1 Gene map locus 19q13.4 (link from Ensembl BioMart) ENSP00000322339 ORTHOMCL1289 jaccard_90
605235: OMIM gene: NUCLEOLAR PROTEIN 3; NOL3 APOPTOSIS REPRESSOR WITH CARD DOMAIN, INCLUDED; ARC, INCLUDED Gene map locus 16q21-q23 (link from Ensembl BioMart) ENSP00000268605 ORTHOMCL10741
605236: OMIM gene: CORIN Gene map locus 4p13-p12 (link from Ensembl BioMart) ENSP00000273857 ORTHOMCL284 jaccard_11881
605237: OMIM gene: XENOTROPIC AND POLYTROPIC RETROVIRUS RECEPTOR; XPR1 Gene map locus 1q25.1 (link from Ensembl BioMart) ENSP00000271566 ORTHOMCL597 jaccard_955
605238: OMIM gene: HISTAMINE N-METHYLTRANSFERASE; HNMT Gene map locus 2q22 (link from Ensembl BioMart) ENSP00000280097 ORTHOMCL12857 jaccard_6961
ENSP00000280096
ENSP00000333259
605239: OMIM gene: ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A, ISOFORM 4; ATP6V0A4 Gene map locus 7q33-q34 (link from Ensembl BioMart) ENSP00000308122 ORTHOMCL258 jaccard_374
605240: OMIM gene: CHEMOKINE, CC MOTIF, LIGAND 28; CCL28 Gene map locus Chr.5 (link from Ensembl BioMart) ENSP00000281629 ORTHOMCL21853 jaccard_3962
ENSP00000354416 ORTHOMCL21853 jaccard_3962
605241: OMIM gene: MD1 PROTEIN (link from Ensembl BioMart) ENSP00000230568 ORTHOMCL11214 jaccard_5213
605242: OMIM gene: USH1C GENE; USH1C Gene map locus 11p15.1 (link from Ensembl BioMart) ENSP00000317018 ORTHOMCL21764 jaccard_33
ENSP00000005226 ORTHOMCL9834 jaccard_33
605243: OMIM gene: MD2 PROTEIN (link from Ensembl BioMart) ENSP00000284818 ORTHOMCL21667 jaccard_5213
605245: OMIM gene: SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 8; SLC2A8 Gene map locus Chr.9 (link from Ensembl BioMart) ENSP00000259379 ORTHOMCL115 jaccard_26
605246: OMIM gene: COMPLEMENT COMPONENT 3a RECEPTOR 1; C3AR1 (link from Ensembl BioMart) ENSP00000302079 ORTHOMCL15702 jaccard_6
605247: OMIM gene: LEUCINE-RICH REPEATS- AND DEATH DOMAIN-CONTAINING PROTEIN; LRDD (link from Ensembl BioMart) ENSP00000337797 ORTHOMCL12169 jaccard_2148
605248: OMIM gene: MUCOLIPIN 1; MCOLN1 Gene map locus 19p13.3-p13.2 (link from Ensembl BioMart) ENSP00000264079 ORTHOMCL25059 jaccard_1714
605249: OMIM phenotype: SEBASTIAN SYNDROME; SBS Gene map locus 22q11.2 (link from NCBI) ENSP00000216181 ORTHOMCL32 jaccard_3
605250: OMIM gene: ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 4; ABCC4 Gene map locus 13q32 (link from Ensembl BioMart) ENSP00000261295 ORTHOMCL588 jaccard_44
605251: OMIM gene: ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 5; ABCC5 Gene map locus 3q27 (link from Ensembl BioMart) ENSP00000333926 ORTHOMCL520 jaccard_44
605252: OMIM gene: POLYMERASE, DNA, IOTA; POLI Gene map locus 18q21.1 (link from Ensembl BioMart) ENSP00000217800 ORTHOMCL8695 jaccard_768
605253: OMIM phenotype: NEUROPATHY, CONGENITAL HYPOMYELINATING Gene map locus 1q22, 10q21.1-q22.1 (link from NCBI) ENSP00000353634 ORTHOMCL8217 jaccard_901
ENSP00000242480 ORTHOMCL8559 jaccard_1128
ENSP00000289928 ORTHOMCL8217 jaccard_901
605254: OMIM gene: NICASTRIN; NCSTN Gene map locus Chr.1 (link from Ensembl BioMart) ENSP00000294785 ORTHOMCL4074 jaccard_3285
605255: OMIM gene: ETS TRANSCRIPTION FACTOR TEL2 Gene map locus 6p21 (link from Ensembl BioMart) ENSP00000341843 ORTHOMCL6138 jaccard_351
ENSP00000229480 ORTHOMCL6138
605256: OMIM gene: RAD18, S. CEREVISIAE, HOMOLOG OF; RAD18 Gene map locus 3p25-p24 (link from Ensembl BioMart) ENSP00000264926 ORTHOMCL5546 jaccard_3760
605257: OMIM gene: ACTIVATION-INDUCED CYTIDINE DEAMINASE; AICDA Gene map locus 12p13 (link from Ensembl BioMart) ENSP00000229335 ORTHOMCL16125 jaccard_1175
605258: OMIM phenotype: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2 Gene map locus 12p13 (link from NCBI) ENSP00000229335 ORTHOMCL16125 jaccard_1175
605261: OMIM gene: NADPH OXIDASE 4; NOX4 Gene map locus 11q14.2-q21 (link from Ensembl BioMart) ENSP00000263317 ORTHOMCL12678 jaccard_448
605262: OMIM gene: NMYC DOWNSTREAM-REGULATED GENE 1; NDRG1 Gene map locus 8q24.3 (link from Ensembl BioMart) ENSP00000319977 ORTHOMCL15796 jaccard_424
605263: OMIM gene: SHC TRANSFORMING PROTEIN 3; SHC3 (link from Ensembl BioMart) ENSP00000277153 ORTHOMCL20666 jaccard_1184
605264: OMIM gene: SORBIN AND SH3 DOMAIN CONTAINING 1; SORBS1 Gene map locus Chr.10 (link from Ensembl BioMart) ENSP00000265987 ORTHOMCL157 jaccard_159
ENSP00000302556 ORTHOMCL157 jaccard_159
ENSP00000277983 ORTHOMCL157 jaccard_159
ENSP00000346622 ORTHOMCL14709 jaccard_159
605265: OMIM gene: CELL DEATH REGULATOR AVEN Gene map locus Chr.15 (link from Ensembl BioMart) ENSP00000306822 ORTHOMCL13807 jaccard_8662
605266: OMIM gene: JUNCTOPHILIN 1; JPH1 Gene map locus 8q21 (link from Ensembl BioMart) ENSP00000344488 ORTHOMCL634 jaccard_403
605267: OMIM gene: JUNCTOPHILIN 2; JPH2 Gene map locus 20q12 (link from Ensembl BioMart) ENSP00000344590 jaccard_403
ENSP00000278973 ORTHOMCL14817 jaccard_403
605268: OMIM gene: JUNCTOPHILIN 3; JPH3 Gene map locus 16q24.3 (link from Ensembl BioMart) ENSP00000284262 ORTHOMCL634 jaccard_403
605269: OMIM gene: CORONIN 1C; CORO1C Gene map locus 12q24.1 (link from Ensembl BioMart) ENSP00000261401 ORTHOMCL1147 jaccard_421
605270: OMIM gene: N-SULFOGLUCOSAMINE SULFOHYDROLASE; SGSH Gene map locus 17q25.3 (link from Ensembl BioMart) ENSP00000314606 ORTHOMCL6037 jaccard_197
605271: OMIM gene: PROTEIN Z-DEPENDENT PROTEASE INHIBITOR PRECURSOR VENOUS THROMBOSIS, SUSCEPTIBILITY TO, INCLUDED Gene map locus 14q32.1 (link from Ensembl BioMart) ENSP00000261994 ORTHOMCL12540 jaccard_51
605272: OMIM gene: NMYC DOWNSTREAM-REGULATED GENE 2; NDRG2 Gene map locus 14q11.2 (link from Ensembl BioMart) ENSP00000344620 jaccard_424
ENSP00000298687 ORTHOMCL10312 jaccard_424
605273: OMIM gene: NMYC DOWNSTREAM-REGULATED GENE 3; NDRG3 Gene map locus 20q11.21-q11.23 (link from Ensembl BioMart) ENSP00000345292 ORTHOMCL857 jaccard_424
ENSP00000352703 ORTHOMCL857 jaccard_424
605276: OMIM gene: APOPTOSIS-ASSOCIATED TYROSINE KINASE; AATK Gene map locus 17q25.3 (link from Ensembl BioMart) ENSP00000324196 ORTHOMCL2896 jaccard_1718
605277: OMIM gene: GLUCOCORTICOID RECEPTOR DNA-BINDING FACTOR 1; GRLF1 Gene map locus 19q13.2-q13.4 (link from Ensembl BioMart) ENSP00000324820 ORTHOMCL1118 jaccard_1575
605278: OMIM gene: CARBOXYLESTERASE 2; CES2 (link from Ensembl BioMart) ENSP00000317842 ORTHOMCL107 jaccard_69
605280: OMIM phenotype: SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT; SPG13 Gene map locus 2q33.1 (link from NCBI) ENSP00000340019 ORTHOMCL1511 jaccard_115
605281: OMIM gene: DEAD/H BOX 4; DDX4 Gene map locus 5q11.2-q12 (link from Ensembl BioMart) ENSP00000350168 ORTHOMCL8150 jaccard_31
ENSP00000347087 ORTHOMCL8150 jaccard_31
605284: OMIM gene: TSC1 GENE; TSC1 Gene map locus 9q34 (link from Ensembl BioMart) ENSP00000298552 ORTHOMCL3051 jaccard_3868
605286: OMIM gene: CALPAIN 10; CAPN10 Gene map locus 2q37.3 (link from Ensembl BioMart) ENSP00000289381
ENSP00000270361 ORTHOMCL11077 jaccard_213
ENSP00000270362 ORTHOMCL12350 jaccard_213
ENSP00000270364
605287: OMIM gene: ARGINYL AMINOPEPTIDASE-LIKE 1; RNPEPL1 Gene map locus 2q37.3 (link from Ensembl BioMart) ENSP00000270357 ORTHOMCL11859 jaccard_151
605289: OMIM phenotype: SPLIT-HAND/FOOT MALFORMATION 4; SHFM4 Gene map locus 3q27 (link from NCBI) ENSP00000264731 ORTHOMCL9548 jaccard_1112