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Entry Name Description Category Pathway Gene
H00002 T-cell acute lymphoblastic leukemia
T-cell acute lymphocytic leukemia 		... transformation. In addition, T-ALLs characteristically show the translocation and aberrant expression of transcription factor oncogenes. These oncogenic transcription factors include T-cell leukaemia homeobox protein ... Cancer NOTCH1 (mutation) [HSA:4851] [KO:K02599]
TAL1 (overexpression) [HSA:6886] [KO:K09068]
TAL2 [HSA:6887] [KO:K09068]
LYL1 (expression) [HSA:4066] [KO:K15604]
MLL-ENL (translocation) [HSA:4297] [KO:K09186]
HOX11 (translocation) [HSA:3195] [KO:K09340]
MYC (translocation) [HSA:4609] [KO:K04377]
LMO2 (translocation) [HSA:4005] [KO:K15612]
HOX11L2 (translocation) [HSA:30012] [KO:K15607]
PICALM-MLLT10 (translocation) [HSA:8028] [KO:K23588]
H00003 Acute myeloid leukemia ... the RTK Flt3, in N-Ras and K-Ras, in Kit, and sporadically in other RTKs. Alterations in myeloid transcription factors governing hematopoietic differentiation provide second necessary event for leukemogenesis ... Cancer hsa05221 Acute myeloid leukemia PML-RARalpha (translocation) [HSA:5371] [KO:K10054]
AML1-ETO (translocation) [HSA:861] [KO:K08367]
PLZF-RARalpha (translocation) [HSA:7704] [KO:K10055]
FLT3 [HSA:2322] [KO:K05092]
KIT [HSA:3815] [KO:K05091]
NRAS [HSA:4893] [KO:K07828]
KRAS [HSA:3845] [KO:K07827]
AML1 [HSA:861] [KO:K08367]
CEBPA [HSA:1050] [KO:K09055]
CBFB [HSA:865] [KO:K25826]
CHIC2 [HSA:26511]
DNMT3A [HSA:1788] [KO:K17398]
ETV6 [HSA:2120] [KO:K03211]
GATA2 [HSA:2624] [KO:K17894]
JAK2 [HSA:3717] [KO:K04447]
LPP [HSA:4026] [KO:K16676]
MLLT10 [HSA:8028] [KO:K23588]
NPM1 [HSA:4869] [KO:K11276]
NUP214 [HSA:8021] [KO:K14317]
PICALM [HSA:8301] [KO:K20044]
SH3GL1 [HSA:6455] [KO:K11247]
TERT [HSA:7015] [KO:K11126]
H00011 Lymphoplasmacytic lymphoma ... chain locus on 14q32. The 9p13 breakpoint contains the PAX-5 gene which encodes a B-cell specific transcription factor involved in the control of B-cell proliferation and differentiation. The translocation ... Cancer Pax5-IgH (translocation) [HSA:5079] [KO:K09383]
H00014 Non-small cell lung cancer ... expression is a common feature of NSCLC. RAR-beta is a nuclear receptor that bears vitamin-A-dependent transcriptional activity. RASSF1A is able to form heterodimers with Nore-1, an RAS effector. Therefore loss ... Cancer hsa05223 Non-small cell lung cancer EML4-ALK (translocation) [HSA:238] [KO:K05119]
CD74-ROS1,SLC34A2-ROS1 (translocation) [HSA:6098] [KO:K05088]
KIF5B-RET (inversion) [HSA:5979] [KO:K05126]
RARB (promoter hypermethylation) [HSA:5915] [KO:K08528]
RASSF1 (promoter hypermethylation) [HSA:11186] [KO:K09850]
KRAS [HSA:3845] [KO:K07827]
EGFR [HSA:1956] [KO:K04361]
FHIT [HSA:2272] [KO:K01522]
CDKN2A [HSA:1029] [KO:K06621]
TP53 [HSA:7157] [KO:K04451]
MET [HSA:4233] [KO:K05099]
BRAF [HSA:673] [KO:K04365]
PIK3CA [HSA:5290] [KO:K00922]
IRF1 [HSA:3659] [KO:K09444]
PPP2R1B [HSA:5519] [KO:K03456]
H00024 Prostate cancer ... p27 levels and to increased proliferation and decreased apoptosis. Androgen receptor (AR) is a transcription factor that is normally activated by its androgen ligand. During androgen withdrawal therapy ... Cancer hsa05215 Prostate cancer AR (amplification, mutation) [HSA:367] [KO:K08557]
CDKN1B (allelic loss) [HSA:1027] [KO:K06624]
NKX3.1 (allelic loss) (decreased expression) [HSA:4824] [KO:K09348]
PTEN (allelic loss) [HSA:5728] [KO:K01110]
GSTP1 (hypermethylation) [HSA:2950] [KO:K23790]
TMPRSS2-ERG (translocation) [HSA:2078] [KO:K09435]
TMPRSS2-ETV1 (translocation) [HSA:2115] [KO:K09431]
TMPRSS2-ETV4 (translocation) [HSA:2118] [KO:K15592]
TMPRSS2-ETV5 (translocation) [HSA:2119] [KO:K15593]
SLC45A3-ETV1 (translocation) [HSA:2115] [KO:K09431]
SLC45A3-ELK4 (translocation) [HSA:2005] [KO:K04376]
DDX5-ETV4 (translocation) [HSA:2118] [KO:K15592]
MAD1L1 (somatic mutation) [HSA:8379] [KO:K06679]
KLF6 (somatic mutation) [HSA:1316] [KO:K09207]
MXI1 (somatic mutation) [HSA:4601] [KO:K09114]
ZFHX3 (somatic mutation) [HSA:463] [KO:K09378]
H00035 Ewing sarcoma ... remaining 1-5% of cases may harbor one of several possible translocations, each resulting in a fusion gene containing a portion of the EWSR1 gene and a member of the ETS family of transcription factors. Cancer EWSR1-FLI1 (translocation) [HSA:2313] [KO:K09436]
EWSR1-ERG (translocation) [HSA:2078] [KO:K09435]
EWSR1-ETV1 (translocation) [HSA:2115] [KO:K09431]
EWSR1-ETV4 (translocation) [HSA:2118] [KO:K15592]
EWSR1-FEV (translocation) [HSA:54738] [KO:K09437]
EWSR1 [HSA:2130] [KO:K13209]
H00051 Alveolar soft part sarcoma ... unbalanced translocation: der(17)t(X:17)(p11;q25). This translocation causes the fusion of the TFE3 (transcription factor binding to IGHM enhancer 3) with a novel gene at 17q25, named ASPL. Translocation between ... Cancer ASPSCR1-TFE3 (translocation) [HSA:79058 7030] [KO:K15627 K09105]
H00053 Extraskeletal myxoid chondrosarcoma ... been identified. The abnormal proteins resulting from these fusion genes aberrantly affect gene transcription and cellular signaling pathways thought to be responsible for initiating sarcoma formation. Cancer EWSR1-NR4A3 (translocation) [HSA:8013] [KO:K08559]
TAF15-NR4A3 (translocation) [HSA:8013] [KO:K08559]
H00059 Huntington disease ... impairs autophagy function, increasing neuronal death susceptibility. N-terminal fragments containing the polyQ stretch translocate to the nucleus where they impair transcription and induce neuronal death. Neurodegenerative disease hsa05016 Huntington disease (HD) HTT (CAG repeat expansion) [HSA:3064] [KO:K04533]
H00063 Spinocerebellar ataxia (SCA) ... primary dysfunction of the cerebellum. Compelling evidence points to major aetiological roles for transcriptional dysregulation, protein aggregation and clearance, autophagy, the ubiquitin-proteasome system ... Neurodegenerative disease hsa05017 Spinocerebellar ataxia (SCA1) ATXN1 [HSA:6310] [KO:K23616]
(SCA2) ATXN2 [HSA:6311] [KO:K23625]
(SCA3) ATXN3 [HSA:4287] [KO:K11863]
(SCA5) SPTBN2 [HSA:6712] [KO:K23932]
(SCA6) CACNA1A [HSA:773] [KO:K04344]
(SCA7) ATXN7 [HSA:6314] [KO:K11318]
(SCA8) ATXN8OS [HSA:6315] [KO:K23933]
(SCA10) ATXN10 [HSA:25814] [KO:K19323]
(SCA11) TTBK2 [HSA:146057] [KO:K08815]
(SCA12) PPP2R2B [HSA:5521] [KO:K04354]
(SCA13) KCNC3 [HSA:3748] [KO:K04889]
(SCA14) PRKCG [HSA:5582] [KO:K19663]
(SCA15/29) ITPR1 [HSA:3708] [KO:K04958]
(SCA17) TBP [HSA:6908] [KO:K03120]
(SCA19/22) KCND3 [HSA:3752] [KO:K04893]
(SCA21) TMEM240 [HSA:339453] [KO:K24870]
(SCA23) PDYN [HSA:5173] [KO:K15840]
(SCA26) EEF2 [HSA:1938] [KO:K03234]
(SCA27A/27B) FGF14 [HSA:2259] [KO:K23920]
(SCA28) AFG3L2 [HSA:10939] [KO:K08956]
(SCA31) BEAN1 [HSA:146227] [KO:K19324]
(SCA34) ELOVL4 [HSA:6785] [KO:K10249]
(SCA35) TGM6 [HSA:343641] [KO:K05624]
(SCA36) NOP56 [HSA:10528] [KO:K14564]
(SCA37) DAB1 [HSA:1600] [KO:K20054]
(SCA38) ELOVL5 [HSA:60481] [KO:K10244]
(SCA40) CCDC88C [HSA:440193] [KO:K25811]
(SCA41) TRPC3 [HSA:7222] [KO:K04966]
(SCA42) CACNA1G [HSA:8913] [KO:K04854]
(SCA43) MME [HSA:4311] [KO:K01389]
(SCA44) GRM1 [HSA:2911] [KO:K04603]
(SCA45) FAT2 [HSA:2196] [KO:K16506]
(SCA46) PLD3 [HSA:23646] [KO:K16860]
(SCA47) PUM1 [HSA:9698] [KO:K17943]
(SCA48) STUB1 [HSA:10273] [KO:K09561]
(SCA49) SAMD9L [HSA:219285] [KO:K23949]
(SCA50) NPTX1 [HSA:4884] [KO:K25709]
H00076 Cockayne syndrome ... childhood onset with mild symptoms. ERCC8 encodes a Walker domain (WD)-repeat protein involved in the transcription-coupled repair system of the actively transcribed DNA. ERCC6 protein is at the interface of ... Neurodegenerative disease (CSA) ERCC8 [HSA:1161] [KO:K10570]
(CSB) ERCC6 [HSA:2074] [KO:K10841]
(XPB/CS) ERCC3 [HSA:2071] [KO:K10843]
(XPF/CS) ERCC4 [HSA:2072] [KO:K10848]
(XPG/CS) ERCC5 [HSA:2073] [KO:K10846]
H00101 Other phagocyte defects ... proteins and associated with recurrent bacterial infections. It has been linked to a defect in the transcription factor CCAAT/enhancer binding protein (C/EBP) epsilon. Myeloperoxidase deficiency is the most ... Primary immunodeficiency
H00107 Other well-defined immunodeficiency syndromes ... with extracellular bacteria. Dominant-negative mutations in the signal transducer and activator of transcription 3 (STAT3) gene result in the classical multisystem form of HIES, whereas a null mutation in ... Primary immunodeficiency WAS [HSA:7454] [KO:K05747]
TBX1 [HSA:6899] [KO:K10175]
STAT3 [HSA:6774] [KO:K04692]
TYK2 [HSA:7297] [KO:K11219]
SH2D1A [HSA:4068] [KO:K07990]
XIAP [HSA:331] [KO:K04725]
ITK [HSA:3702] [KO:K07363]
AIRE [HSA:326] [KO:K10603]
FOXP3 [HSA:50943] [KO:K10163]
RMRP [HSA:6023] [KO:K14576]
H00153 Familial combined hyperlipidemia Familial combined hyperlipidemia (FCHL) is linked and associated with the gene encoding upstream transcription factor 1 (USF1) and characterized by elevated levels of serum total cholesterol, triglycerides ... Inherited metabolic disorder (FCHL1) USF1 [HSA:7391] [KO:K09106]
(FCHL3) LPL [HSA:4023] [KO:K01059]
H00410 Maturity onset diabetes of the young (MODY) ... secretion defects. Mutations in six genes, encoding the glucose sensor enzyme glucokinase and five transcription factors that participate in a regulatory network essential for adult beta cell function, cause ... Endocrine and metabolic disease hsa04950 Maturity onset diabetes of the young (MODY1) HNF4A [HSA:3172] [KO:K07292]
(MODY2) GCK [HSA:2645] [KO:K12407]
(MODY3) HNF1A [HSA:6927] [KO:K08036]
(MODY4) PDX1 [HSA:3651] [KO:K07594]
(MODY5) HNF1B [HSA:6928] [KO:K08034]
(MODY6) NEUROD1 [HSA:4760] [KO:K08033]
(MODY7) KLF11 [HSA:8462] [KO:K09209]
(MODY8) CEL [HSA:1056] [KO:K12298]
(MODY9) PAX4 [HSA:5078] [KO:K08032]
(MODY10) INS [HSA:3630] [KO:K04526]
(MODY11) BLK [HSA:640] [KO:K08890]
(MODY13) KCNJ11 [HSA:3767] [KO:K05004]
(MODY14) APPL1 [HSA:26060] [KO:K08733]
H00433 Holt-Oram syndrome ... abnormal carpal bones and about 85% to 95% develop cardiac malformation including atrial septal defect and ventricular septal defect. The disease is caused by mutations of the T-box transcription factor TBX5. Congenital malformation TBX5 [HSA:6910] [KO:K10179]
H00453 Branchio-oto-renal syndrome
BOR syndrome 		... branchial defects, and facial abnormalities. Individuals with BOR syndrome have renal anomalies as well. Mutations in the EYA1 or its transcription cofactor SIX1 and SIX5 are responsible for the diseases. Congenital malformation (BOR1/BO1) EYA1 [HSA:2138] [KO:K15616]
(BOR2) SIX5 [HSA:147912] [KO:K19474]
(BO3) SIX1 [HSA:6495] [KO:K15614]
H00546 Atrial septal defect ... heart defect that arise from perturbations of cardiac development during embryogenesis. Multiple transcriptions factors that regulate cardiac development as well as various chemicals and maternal diseases ... Congenital malformation (ASD2) GATA4 [HSA:2626] [KO:K09183]
(ASD3) MYH6 [HSA:4624] [KO:K17751]
(ASD4) TBX20 [HSA:57057] [KO:K10185]
(ASD5) ACTC1 [HSA:70] [KO:K12314]
(ASD6) TLL1 [HSA:7092] [KO:K09608]
(ASD7) NKX2-5 [HSA:1482] [KO:K09345]
(ASD8) CITED2 [HSA:10370] [KO:K21361]
(ASD9) GATA6 [HSA:2627] [KO:K17897]
H00568 Myotonic dystrophy ... repeat expansion in a region transcribed into RNA but not translated into protein. The mutant RNA transcripts aberrantly affect the splicing of the same target RNAs, such as chloride channel 1 (ClC-1) and ... Nervous system disease; Musculoskeletal disease (DM1) DMPK [HSA:1760] [KO:K08788]
(DM2) CNBP [HSA:7555] [KO:K09250]
H00610 Treacher Collins syndrome ... is involved in the production of ribosomal RNA within cells. POLR1C and POLR1D encode subunits present in RNA polymerase I and III. Both of these polymerases are involved in ribosomal RNA transcription. Ribosomopathy (TCS1) TCOF1 [HSA:6949] [KO:K14562]
(TCS2) POLR1D [HSA:9533] [KO:K03027]
(TCS3) POLR1C [HSA:51082] [KO:K03020]
(TCS4) POLR1B [HSA:84172] [KO:K03002]
H00634 Duane-radial ray syndrome
Okihiro syndrome 		... an association of Duane retraction syndrome (eye retraction) with radial malformations of the upper extremities and deafness. Mutations in the transcription factor SALL4 are the cause of the disorder. Congenital malformation SALL4 [HSA:57167] [KO:K19871]
H00676 Congenital primary aphakia ... lens-induced anterior structures does not take place in CPA, resulting in complete aplasia of the anterior segment of the eye. CPA is caused by mutations in FOXE3, a lens-specific transcription factor. Congenital malformation FOXE3 [HSA:2301] [KO:K09398]
H00740 Ichthyosis follicularis, alopecia, and photophobia syndrome ... endoplasmic reticulum stress response. Recently, it has been reported that mutations in SREBF1, encoding sterol regulatory element binding transcription factor 1, cause autosomal dominant IFAP syndrome. Congenital malformation (IFAP1) MBTPS2 [HSA:51360] [KO:K07765]
(IFAP2) SREBF1 [HSA:6720] [KO:K07197]
H00747 Thyrotoxic hypokalemic periodic paralysis ... in TPP patients in an inwardly rectifying potassium channel, , that is expressed in muscle and transcriptionally regulated by thyroid hormone. Mutations in Kir2.6, which occur in up to 33% of patients ... Nervous system disease; Musculoskeletal disease KCNJ18 [HSA:100134444] [KO:K05005]
H00860 Benign hereditary chorea ... chorea, normal neurologic examination findings. Mutations in the TTF1 gene encoding the thyroid transcription factor-1 have been identified in a number of BHC patients, suggesting that aberration of TTF1 ... Nervous system disease TTF1 [HSA:7270] [KO:K15225]
H00902 Speech-language disorder 1 Speech-language disorder-1 is an autosomal dominant disorder caused by mutations of the FOXP2 transcription factor gene. It has been reported that mutations of the FOXP2 cause a monogenic syndrome characterized ... Mental and behavioural disorder FOXP2 [HSA:93986] [KO:K09409]
H00909 Cleft palate with ankyloglossia ... ankyloglossia is an X-linked semi-dominant craniofacial disorder caused by mutations in the TBX22 transcription factor. It affects male patients and approximately one third of female carriers. It is resulted ... Congenital malformation TBX22 [HSA:50945] [KO:K10186]
H00910 Hirschsprung disease ... genes have been identified to be associated with HSCR. The functions of the gene products include transcription factors regulating gene expression in neural crest cells and in participants in signaling pathways ... Congenital malformation (HSCR1) RET [HSA:5979] [KO:K05126]
(HSCR2) EDNRB [HSA:1910] [KO:K04198]
(HSCR3) GDNF [HSA:2668] [KO:K05452]
(HSCR4) EDN3 [HSA:1908] [KO:K05227]
(HCAD) ECE1 [HSA:1889] [KO:K01415]
H00913 Brain-lung-thyroid syndrome
Choreoathetosis, hypothyroidism, and neonatal respiratory distress 		... described as choreoathetosis. This disorder is attributed to mutations of the NKX2.1, a homeodomain transcription factor expressed in the developing thyroid, respiratory epithelium, and specific areas of the ... Endocrine and metabolic disease NKX2-1 [HSA:7080] [KO:K09342]
H00994 Familial skewed X-chromosome inactivation X chromosome inactivation is the transcriptional silencing of the majority of genes on one of the two X chromosomes in mammalian females that equalizes the effective dosage of X-linked genes between XX ... Chromosomal abnormality
H01011 Adrenocorticotropic hormone deficiency
Isolated ACDH deficiency 		... loss-of-function mutations in the human TPIT (TBX19) gene were detected in IAD. TPIT is a T-box transcription factor with a specific role in differentiation of the corticotroph lineage. It has been reported ... Endocrine and metabolic disease TBX19 [HSA:9095] [KO:K10184]
H01040 Bamforth-Lazarus syndrome ... associated with Bamforth-Lazarus syndrome. FOXE1 is a member of the forkhead/winged-helix family and functions as a thyroid transcription factor which likely plays a crucial role in thyroid morphogenesis. Endocrine and metabolic disease FOXE1 [HSA:2304] [KO:K09398]
H01114 Ocular coloboma ... recessive inheritance also occurs. Paired box gene 6 (PAX6), a member of the paired box family of transcription factors, has been identified as a key regulator of eye development. Currently around 500 mutations ... Congenital malformation PAX6 [HSA:5080] [KO:K08031]
SALL2 [HSA:6297] [KO:K19871]
YAP1 [HSA:10413] [KO:K16687]
H01149 Ring dermoid of cornea ... in PITX2 has been identified in the individuals affected by the RDC. PITX2 encodes a homeodomain transcription factor required for normal development of multiple organs, including eye, heart, and pituitary Neoplasm PITX2 [HSA:5308] [KO:K04686]
H01159 Anterior segment dysgenesis ... development. Human ASGD phenotypes are genetically heterogeneous resulting from mutations in different transcription factor genes and a cytochrome enzyme gene. ASGD is sometimes divided into subtypes including ... Congenital malformation (ASGD1) PITX3 [HSA:5309] [KO:K09357]
(ASGD2) FOXE3 [HSA:2301] [KO:K09398]
(ASGD3) FOXC1 [HSA:2296] [KO:K09396]
(ASGD4) PITX2 [HSA:5308] [KO:K04686]
(ASGD5) PAX6 [HSA:5080] [KO:K08031]
(ASGD6) CYP1B1 [HSA:1545] [KO:K07410]
(ASGD7) PXDN [HSA:7837] [KO:K19511]
(ASGD8) CPAMD8 [HSA:27151]
H01181 T-cell immunodeficiency congenital alopecia and nail dystrophy ... severe combined immunodeficiency (SCID) syndrome caused by a mutation in FOXN1 gene encoding a transcription factor selectively expressed in thymic epithelia and skin. SCIDs are disorders of both cell-mediated ... Immune system disease FOXN1 [HSA:8456] [KO:K09407]
H01187 Tietz syndrome
Albinism-deafness syndrome 		... A missense mutation has been found in the basic region of the MITF (microphthalmia associated transcription factor) gene. Mutations in other regions of this gene have been found to produce Waardenburg ... Skin disease MITF [HSA:4286] [KO:K09455]
H01202 Cataract ... gap junction proteins, membrane transport and channel proteins, the cytoskeleton, and growth and transcription factors. Inherited congenital cataracts may be inherited as autosomal dominant (most frequent) ... Nervous system disease (CTRCT1) GJA8 [HSA:2703] [KO:K07617]
(CTRCT2) CRYGC [HSA:1420] [KO:K23483]
(CTRCT3) CRYBB2 [HSA:1415] [KO:K23482]
(CTRCT4) CRYGD [HSA:1421] [KO:K23483]
(CTRCT5) HSF4 [HSA:3299] [KO:K09417]
(CTRCT6) EPHA2 [HSA:1969] [KO:K05103]
(CTRCT9) CRYAA [HSA:1409] [KO:K09541]
(CTRCT10) CRYBA1 [HSA:1411] [KO:K23482]
(CTRCT11) PITX3 [HSA:5309] [KO:K09357]
(CTRCT12) BFSP2 [HSA:8419] [KO:K10379]
(CTRCT13) GCNT2 [HSA:2651] [KO:K00742]
(CTRCT14) GJA3 [HSA:2700] [KO:K07612]
(CTRCT15) MIP [HSA:4284] [KO:K09863]
(CTRCT16) CRYAB [HSA:1410] [KO:K09542]
(CTRCT17) CRYBB1 [HSA:1414] [KO:K23482]
(CTRCT18) FYCO1 [HSA:79443] [KO:K21954]
(CTRCT19) LIM2 [HSA:3982] [KO:K24190]
(CTRCT20) CRYGS [HSA:1427] [KO:K23483]
(CTRCT21) MAF [HSA:4094] [KO:K09035]
(CTRCT22) CRYBB3 [HSA:1417] [KO:K23482]
(CTRCT23) CRYBA4 [HSA:1413] [KO:K23482]
(CTRCT30) VIM [HSA:7431] [KO:K07606]
(CTRCT31) CHMP4B [HSA:128866] [KO:K12194]
(CTRCT33) BFSP1 [HSA:631] [KO:K10378]
(CTRCT34) FOXE3 [HSA:2301] [KO:K09398]
(CTRCT36) TDRD7 [HSA:23424] [KO:K18405]
(CTRCT38) AGK [HSA:55750] [KO:K09881]
(CTRCT39) CRYGB [HSA:1419] [KO:K23483]
(CTRCT40) NHS [HSA:4810] [KO:K24144]
(CTRCT41) WFS1 [HSA:7466] [KO:K14020]
(CTRCT42) CRYBA2 [HSA:1412] [KO:K23482]
(CTRCT43) UNC45B [HSA:146862] [KO:K21991]
(CTRCT44) LSS [HSA:4047] [KO:K01852]
(CTRCT45) SIPA1L3 [HSA:23094] [KO:K17703]
(CTRCT46) LEMD2 [HSA:221496] [KO:K24080]
(CTRCT47) SLC16A12 [HSA:387700] [KO:K11810]
(CTRCT48) DNMBP [HSA:23268] [KO:K20705]
(CTRCT49) PANK4 [HSA:55229] [KO:K24265]
(CTRCT50) TRPM3 [HSA:80036] [KO:K04978]
H01228 Insulin-resistant diabetes mellitus with acanthosis nigricans
Type A insulin resistance 		... abnormalities associated with mutations of the insulin receptor (INSR) gene, characterized by phenotypic description of extreme insulin resistance, acanthosis nigricans, and hyperandrogenism. Other phenotype of ... Metabolic disease; Endocrine disease INSR [HSA:3643] [KO:K04527]
H01299 Idiopathic pulmonary fibrosis ... cough. Mutations in surfactant protein C (SFTPC), surfactant protein A (SFTPA), telomerase reverse transcriptase (TERT), and telomerase RNA component (TERC) have been identified in familial cases of pulmonary ... Respiratory system disease (PFBMFT1) TERT [HSA:7015] [KO:K11126]
(PFBMFT2) TERC [HSA:7012] [KO:K22183]
(ILD1) SFTPA1 [HSA:653509] [KO:K10067]
(ILD2) SFTPA2 [HSA:729238] [KO:K10067]
(ILD2) MUC5B [HSA:727897] [KO:K13908]
SFTPC [HSA:6440] [KO:K26068]
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